Variant report

Variant	rs11672030
Chromosome Location	chr19:28284064-28284065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:28283743-28285673	GM12891	blood:	n/a	n/a
2	MYC	chr19:28284062-28285099	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr19:28283957-28285057	Hela-S3	cervix:	n/a	n/a
4	IRF1	chr19:28283882-28285090	K562	blood:	n/a	chr19:28284353-28284367
5	MYC	chr19:28284019-28285092	K562	blood:	n/a	n/a
6	POLR2A	chr19:28283945-28285607	K562	blood:	n/a	n/a
7	POLR2A	chr19:28283920-28285734	GM19099	blood:	n/a	n/a
8	POLR2A	chr19:28283939-28285165	A549	lung:	n/a	n/a
9	MAZ	chr19:28283952-28285481	HepG2	liver:	n/a	chr19:28285244-28285254
10	REST	chr19:28283584-28285992	A549	lung:	n/a	chr19:28285678-28285685 chr19:28285684-28285698 chr19:28285570-28285588 chr19:28285678-28285698 chr19:28285678-28285698 chr19:28285679-28285697 chr19:28285678-28285698 chr19:28285572-28285585
11	POLR2A	chr19:28283943-28284253	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr19:28283848-28285289	A549	lung:	n/a	chr19:28285250-28285263
13	POLR2A	chr19:28283711-28285182	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:28283972-28285639	K562	blood:	n/a	n/a
15	USF1	chr19:28283668-28285155	A549	lung:	n/a	n/a
16	YY1	chr19:28284044-28284323	HCT-116	colon:	n/a	n/a
17	TCF12	chr19:28283719-28285190	ECC-1	luminal epithelium:	n/a	n/a
18	SIN3AK20	chr19:28283938-28284364	HepG2	liver:	n/a	n/a
19	CHD2	chr19:28283943-28285305	Hela-S3	cervix:	n/a	chr19:28284355-28284365
20	CTCF	chr19:28284060-28284210	AG04449	skin:	n/a	n/a
21	MAX	chr19:28283930-28284473	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:28283939-28285363	ProgFib	skin:	n/a	n/a
23	TAF1	chr19:28283966-28285201	PFSK-1	brain:	n/a	n/a
24	SIN3A	chr19:28283923-28285982	H1-hESC	embryonic stem cell:	n/a	chr19:28285682-28285692 chr19:28285386-28285397 chr19:28285683-28285697
25	HCFC1	chr19:28283988-28285362	K562	blood:	n/a	n/a
26	POLR2A	chr19:28283948-28285627	GM12878	blood:	n/a	n/a
27	MAX	chr19:28283953-28284246	HepG2	liver:	n/a	n/a
28	RUNX3	chr19:28284039-28285121	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr19:28283823-28285402	MCF-7	breast:	n/a	n/a
30	MAX	chr19:28283812-28285331	HCT-116	colon:	n/a	chr19:28285244-28285254
31	MXI1	chr19:28283739-28285896	IMR90	lung:	n/a	n/a
32	GABPA	chr19:28284039-28285543	A549	lung:	n/a	chr19:28285342-28285356
33	POLR2A	chr19:28283735-28285527	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr19:28283910-28285185	HCT-116	colon:	n/a	n/a
35	POLR2A	chr19:28283984-28285257	HUVEC	blood vessel:	n/a	n/a
36	TBP	chr19:28283816-28285163	Hela-S3	cervix:	n/a	n/a
37	RELA	chr19:28284026-28285152	GM18505	blood:	n/a	n/a
38	POLR2A	chr19:28283970-28285620	MCF-7	breast:	n/a	n/a
39	MAX	chr19:28283824-28285424	Hela-S3	cervix:	n/a	chr19:28285244-28285254
40	MAX	chr19:28283893-28285559	MCF-7	breast:	n/a	chr19:28285244-28285254
41	TCF12	chr19:28284046-28284227	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:28283944-28285402	HEK293	kidney:	n/a	n/a
43	MYC	chr19:28283927-28285458	Hela-S3	cervix:	n/a	chr19:28285244-28285254
44	GABPA	chr19:28283964-28285640	MCF-7	breast:	n/a	chr19:28285342-28285356
45	POLR2A	chr19:28283872-28285194	U87	brain:	n/a	n/a
46	MAX	chr19:28283927-28284341	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZBTB7A	chr19:28284028-28284219	K562	blood:	n/a	n/a
48	TAF1	chr19:28283855-28285451	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr19:28283877-28285254	ECC-1	luminal epithelium:	n/a	n/a
50	TAF1	chr19:28283990-28284178	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:28282821..28287672-chr19:28291926..28296792,7	K562	blood:
2	chr19:28283285..28285324-chr19:28296519..28298555,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-9	chr19:28283908-28284164	XLOC_013282
2	lnc-UQCRFS1-9	chr19:28283908-28284249	XLOC_013282
3	lnc-UQCRFS1-9	chr19:28283908-28284286	ENSG00000261824.2
4	lnc-UQCRFS1-9	chr19:28283908-28284287	NONHSAT063963
5	lnc-UQCRFS1-9	chr19:28283908-28284287	NONHSAT063980
6	lnc-UQCRFS1-9	chr19:28283908-28284286	ENSG00000261824.2
7	lnc-UQCRFS1-9	chr19:28283908-28284286	ENSG00000261824.2

Variant related genes	Relation type
ENSG00000267575	TF binding region
LINC00662	TF binding region
ENSG00000272635	TF binding region
ENSG00000267264	Chromatin interaction
ENSG00000267323	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10401215	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10423721	1.00[ASN][1000 genomes]
rs10426115	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10500227	1.00[ASN][1000 genomes]
rs10500228	1.00[ASN][1000 genomes]
rs11665672	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11665757	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11666317	1.00[ASN][1000 genomes]
rs11666634	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11666844	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666865	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11667490	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11667773	1.00[ASN][1000 genomes]
rs11667808	1.00[ASN][1000 genomes]
rs11667843	1.00[ASN][1000 genomes]
rs11669594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670170	1.00[ASN][1000 genomes]
rs11670416	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11670489	1.00[ASN][1000 genomes]
rs11671105	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11671558	1.00[ASN][1000 genomes]
rs11671577	1.00[ASN][1000 genomes]
rs11671795	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672539	1.00[ASN][1000 genomes]
rs11672752	1.00[ASN][1000 genomes]
rs11672926	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544602	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620388	1.00[ASN][1000 genomes]
rs17687460	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159885	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2190798	1.00[ASN][1000 genomes]
rs4239564	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4378721	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61593976	1.00[ASN][1000 genomes]
rs62115467	1.00[ASN][1000 genomes]
rs7247064	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7259514	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014609	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73014670	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73014693	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73014697	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73014700	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73016608	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73016611	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73016615	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73018707	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73018712	0.87[AMR][1000 genomes]
rs73018714	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73018757	0.84[AMR][1000 genomes]
rs73018758	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73018762	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73018774	0.87[AMR][1000 genomes]
rs73018790	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73020750	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73020753	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73020775	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73020789	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73022706	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73024749	1.00[ASN][1000 genomes]
rs73024764	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024769	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024774	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026853	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026867	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026890	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73028128	1.00[ASN][1000 genomes]
rs73028161	1.00[ASN][1000 genomes]
rs73028162	1.00[ASN][1000 genomes]
rs73028959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73028970	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032210	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73032213	1.00[ASN][1000 genomes]
rs73032248	1.00[ASN][1000 genomes]
rs73032250	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73032265	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73033898	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73035818	1.00[ASN][1000 genomes]
rs73035836	1.00[ASN][1000 genomes]
rs73035838	1.00[ASN][1000 genomes]
rs73035863	1.00[ASN][1000 genomes]
rs73035895	1.00[ASN][1000 genomes]
rs73035898	1.00[ASN][1000 genomes]
rs73037829	1.00[ASN][1000 genomes]
rs741081	1.00[ASN][1000 genomes]
rs759045	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs764366	1.00[ASN][1000 genomes]
rs8107238	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8108764	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961285	chr19:27731783-28407818	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv1060674	chr19:27747981-28299996	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1065481	chr19:27747981-28413175	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1059366	chr19:27747981-28414634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1058373	chr19:27747981-28491356	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1061090	chr19:27747981-28682929	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv911510	chr19:27763440-28330908	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv911511	chr19:27763440-28468209	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv911512	chr19:27763440-28484676	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv911513	chr19:27763440-28491875	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911514	chr19:27763440-28496053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv911523	chr19:27794208-28468209	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv911524	chr19:27794208-28484676	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv911525	chr19:27794208-28491875	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv911526	chr19:27794208-28496053	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv1063232	chr19:27853206-28569858	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv543972	chr19:27853206-28569858	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
18	nsv1055749	chr19:27853206-28740895	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv543973	chr19:27853206-28740895	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv1067798	chr19:27853207-28431843	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv498156	chr19:27853207-28431843	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv868982	chr19:27853207-28483508	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	nsv930989	chr19:27853207-28569857	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
24	nsv532819	chr19:27853207-28664723	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
25	nsv530474	chr19:27853207-28740894	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv916250	chr19:27853209-28483527	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
27	nsv911535	chr19:27861995-28491875	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
28	nsv911536	chr19:27861995-28496053	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
29	esv2762966	chr19:27881186-28539281	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
30	nsv911543	chr19:27893661-28496053	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	nsv1062168	chr19:27919584-28460526	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
32	nsv543976	chr19:27919584-28460526	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
33	nsv1058421	chr19:27919584-28491356	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
34	nsv543977	chr19:27919584-28491356	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
35	nsv1061318	chr19:27919584-28509647	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
36	nsv543978	chr19:27919584-28509647	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
37	nsv1060373	chr19:27919584-28530216	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
38	nsv1055340	chr19:27919584-28755810	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
39	nsv1063211	chr19:27919584-28777862	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
40	nsv543979	chr19:27919584-28777862	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
41	nsv1059604	chr19:27919584-28814901	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
42	nsv1064493	chr19:27919584-28837984	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
43	nsv911548	chr19:27948862-28845130	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
44	nsv1066407	chr19:27975329-28491356	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	nsv1066314	chr19:28081028-28365076	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
46	nsv1061907	chr19:28123218-28343487	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
47	nsv1058414	chr19:28196208-28702108	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
48	nsv1059005	chr19:28196929-28414634	Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
49	nsv579196	chr19:28200288-29010504	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
50	nsv911556	chr19:28243996-28888340	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs11672030	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11672030	LINC00662	cis	Whole Blood	GTEx
rs11672030	CTC-459F4.1	cis	Esophagus Muscularis	GTEx
rs11672030	CTC-459F4.1	cis	Stomach	GTEx
rs11672030	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs11672030	CTC-459F4.1	cis	Artery Aorta	GTEx
rs11672030	CTC-459F4.1	cis	lung	GTEx
rs11672030	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs11672030	CTC-459F4.1	cis	Artery Tibial	GTEx
rs11672030	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs11672030	CTC-459F4.1	cis	Thyroid	GTEx
rs11672030	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs11672030	CTC-459F4.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28281600-28285400	Active TSS	HMEC	breast
2	chr19:28281600-28285400	Active TSS	NHEK	skin
3	chr19:28281600-28285800	Active TSS	Muscle Satellite Cultured Cells	--
4	chr19:28281800-28285800	Active TSS	K562	blood
5	chr19:28281800-28286000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:28281800-28286200	Active TSS	HSMMtube	muscle
7	chr19:28282200-28285400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr19:28282200-28285400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:28282200-28285400	Active TSS	GM12878-XiMat	blood
10	chr19:28282200-28285600	Active TSS	Right Atrium	heart
11	chr19:28282200-28286000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:28282200-28286200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr19:28282400-28285400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:28282400-28285400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:28282400-28285600	Active TSS	Hela-S3	cervix
16	chr19:28282400-28285800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:28282400-28286000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:28282600-28285000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:28282600-28285600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:28282600-28285800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:28282600-28285800	Active TSS	HSMM	muscle
22	chr19:28282600-28286000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:28282600-28286000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:28282600-28286000	Active TSS	NHLF	lung
25	chr19:28282800-28284200	Flanking Active TSS	Dnd41	blood
26	chr19:28282800-28285600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:28282800-28285600	Active TSS	Stomach Smooth Muscle	stomach
28	chr19:28282800-28285600	Active TSS	NH-A	brain
29	chr19:28282800-28285800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:28282800-28285800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:28282800-28286000	Active TSS	A549	lung
32	chr19:28282800-28286000	Active TSS	NHDF-Ad	bronchial
33	chr19:28283000-28284800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr19:28283000-28285400	Active TSS	Fetal Brain Female	brain
35	chr19:28283000-28285600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:28283000-28286000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:28283000-28286000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:28283000-28286000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr19:28283000-28286000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr19:28283200-28284200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr19:28283200-28285400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:28283200-28285400	Active TSS	Brain Germinal Matrix	brain
43	chr19:28283200-28285600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:28283200-28285600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:28283200-28285600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:28283200-28285600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr19:28283200-28285600	Active TSS	Fetal Brain Male	brain
48	chr19:28283200-28285800	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:28283400-28285200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:28283400-28285600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links