Variant report

Variant	rs2303729
Chromosome Location	chr19:41111069-41111070
allele	C/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	EGR1	chr19:41111053-41112446	HCT-116	colon:	n/a	chr19:41111599-41111612 chr19:41111428-41111442 chr19:41111599-41111612 chr19:41111446-41111460
2	TCF12	chr19:41111004-41111874	ECC-1	luminal epithelium:	n/a	chr19:41111228-41111238
3	POLR2A	chr19:41110594-41111875	MCF-7	breast:	n/a	n/a
4	FOSL2	chr19:41107922-41112397	A549	lung:	n/a	chr19:41110415-41110427
5	POLR2A	chr19:41110928-41112549	Raji	blood:	n/a	n/a
6	MAX	chr19:41109057-41112684	A549	lung:	n/a	chr19:41109621-41109631 chr19:41110033-41110043 chr19:41112230-41112240 chr19:41109693-41109703 chr19:41110085-41110095
7	CREB1	chr19:41110849-41112580	A549	lung:	n/a	n/a
8	POLR2A	chr19:41110932-41111799	HCT-116	colon:	n/a	n/a
9	MYC	chr19:41111061-41111721	MCF-7	breast:	n/a	n/a
10	REST	chr19:41110031-41112231	A549	lung:	n/a	chr19:41111216-41111224 chr19:41112104-41112117
11	ZBTB7A	chr19:41111030-41111325	K562	blood:	n/a	n/a
12	POLR2A	chr19:41109149-41112024	K562	blood:	n/a	n/a
13	RELA	chr19:41111019-41111978	GM18951	blood:	n/a	n/a
14	ETS1	chr19:41109472-41112141	A549	lung:	n/a	chr19:41109616-41109627 chr19:41110186-41110197 chr19:41109782-41109793 chr19:41112032-41112045
15	CTCF	chr19:41107334-41112542	A549	lung:	n/a	chr19:41110180-41110196 chr19:41108676-41108684 chr19:41108186-41108199 chr19:41108187-41108196 chr19:41110184-41110194 chr19:41108671-41108689 chr19:41108181-41108199 chr19:41108183-41108196 chr19:41108666-41108687 chr19:41108184-41108194
16	POLR2A	chr19:41110991-41111843	A549	lung:	n/a	n/a
17	TCF12	chr19:41107775-41112752	A549	lung:	n/a	chr19:41110897-41110905 chr19:41109793-41109800 chr19:41111228-41111238 chr19:41109824-41109831
18	ATF3	chr19:41110104-41112147	A549	lung:	n/a	n/a
19	E2F6	chr19:41110870-41111786	A549	lung:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111604-41111613 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
20	POLR2A	chr19:41110878-41111806	A549	lung:	n/a	n/a
21	HCFC1	chr19:41110668-41112601	Hela-S3	cervix:	n/a	n/a
22	REST	chr19:41107638-41112355	A549	lung:	n/a	chr19:41109783-41109796 chr19:41110030-41110043 chr19:41111216-41111224 chr19:41108709-41108719 chr19:41112104-41112117 chr19:41112227-41112240 chr19:41108218-41108231
23	SIN3AK20	chr19:41108846-41112253	A549	lung:	n/a	n/a
24	E2F6	chr19:41110770-41111934	K562	blood:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111604-41111613 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
25	NR3C1	chr19:41111011-41112194	A549	lung:	n/a	chr19:41111921-41111939 chr19:41111927-41111940 chr19:41111930-41111937
26	E2F6	chr19:41110952-41111816	K562	blood:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111604-41111613 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
27	SIN3AK20	chr19:41110841-41111829	PANC-1	pancreas:	n/a	n/a
28	SP1	chr19:41107843-41112596	A549	lung:	n/a	chr19:41110032-41110044 chr19:41111573-41111585 chr19:41110084-41110096 chr19:41112229-41112241 chr19:41112248-41112260 chr19:41110813-41110823 chr19:41108191-41108203 chr19:41110370-41110382 chr19:41112112-41112123 chr19:41110372-41110381 chr19:41110184-41110198 chr19:41110813-41110822 chr19:41111839-41111849 chr19:41109836-41109845 chr19:41108095-41108104 chr19:41110808-41110821 chr19:41110033-41110043 chr19:41111573-41111585 chr19:41109835-41109844 chr19:41110032-41110044 chr19:41108094-41108106 chr19:41110370-41110382 chr19:41110084-41110096 chr19:41109257-41109266 chr19:41108188-41108202 chr19:41108330-41108344 chr19:41112461-41112473 chr19:41108192-41108201 chr19:41112229-41112241 chr19:41110372-41110381 chr19:41110187-41110199 chr19:41110814-41110823 chr19:41109905-41109917 chr19:41110188-41110197 chr19:41110085-41110095 chr19:41111254-41111263 chr19:41110812-41110824 chr19:41110371-41110380 chr19:41112230-41112240 chr19:41111253-41111265 chr19:41109905-41109916 chr19:41108095-41108105 chr19:41112249-41112258 chr19:41109905-41109917 chr19:41112461-41112473 chr19:41110814-41110823 chr19:41111575-41111584 chr19:41110187-41110199 chr19:41110812-41110824 chr19:41109689-41109703 chr19:41110371-41110381 chr19:41109906-41109915 chr19:41110020-41110034
29	E2F4	chr19:41111064-41111345	GM12878	blood:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
30	PBX3	chr19:41109279-41112713	A549	lung:	n/a	n/a
31	MYC	chr19:41110708-41111714	MCF10A-Er-Src	breast:	n/a	n/a
32	MXI1	chr19:41108742-41112633	SK-N-SH	brain:	n/a	chr19:41112101-41112110
33	MAX	chr19:41111050-41111730	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr19:41106852-41112636	HCT-116	colon:	n/a	chr19:41108140-41108149 chr19:41106996-41107006 chr19:41109621-41109631 chr19:41107680-41107690 chr19:41110033-41110043 chr19:41112230-41112240 chr19:41108141-41108148 chr19:41109693-41109703 chr19:41110085-41110095 chr19:41107176-41107186 chr19:41108976-41108985
35	NFIC	chr19:41110657-41112508	ECC-1	luminal epithelium:	n/a	n/a
36	ELF1	chr19:41111025-41112466	A549	lung:	n/a	n/a
37	ELF1	chr19:41110931-41111717	MCF-7	breast:	n/a	n/a
38	GABPA	chr19:41111015-41111623	A549	lung:	n/a	n/a
39	TCF12	chr19:41110857-41111859	ECC-1	luminal epithelium:	n/a	chr19:41110897-41110905 chr19:41111228-41111238
40	CBX3	chr19:41110081-41112181	K562	blood:	n/a	n/a
41	MAX	chr19:41110669-41111780	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr19:41110649-41111892	MCF-7	breast:	n/a	n/a
43	ZNF263	chr19:41107273-41112166	HEK293-T-REx	kidney:	n/a	chr19:41107583-41107592 chr19:41109635-41109644
44	E2F6	chr19:41111005-41111592	H1-hESC	embryonic stem cell:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
45	MAX	chr19:41110917-41111886	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr19:41110729-41112668	MCF-7	breast:	n/a	n/a
47	E2F4	chr19:41110902-41111660	Hela-S3	cervix:	n/a	chr19:41111202-41111209 chr19:41111202-41111209 chr19:41111201-41111213 chr19:41111604-41111613 chr19:41111198-41111212 chr19:41111201-41111210 chr19:41111202-41111209
48	POLR2A	chr19:41107198-41112648	SK-N-MC	brain:	n/a	n/a
49	MAX	chr19:41110537-41112613	ECC-1	luminal epithelium:	n/a	chr19:41112230-41112240
50	BCL3	chr19:41107600-41112675	A549	lung:	n/a	chr19:41109906-41109915 chr19:41109623-41109636 chr19:41109787-41109796 chr19:41110189-41110198 chr19:41109814-41109827 chr19:41108090-41108099 chr19:41108193-41108202 chr19:41109619-41109632

No.	Distal block	Cell Line	Cell type
1	chr19:40949716..40951577-chr19:41110913..41113250,2	MCF-7	breast:
2	chr19:41111016..41111944-chr19:41140256..41140972,4	MCF-7	breast:
3	chr19:41107019..41113650-chr19:41128672..41134191,9	K562	blood:
4	chr19:40931237..40933267-chr19:41108598..41112233,4	K562	blood:
5	chr19:41075066..41076899-chr19:41107772..41111753,3	K562	blood:
6	chr19:41035178..41037459-chr19:41108558..41111461,2	MCF-7	breast:
7	chr19:41081216..41084507-chr19:41109456..41112097,3	MCF-7	breast:
8	chr19:41080593..41082114-chr19:41110089..41112086,2	K562	blood:
9	chr19:41031800..41040224-chr19:41101608..41111828,17	K562	blood:
10	chr19:41110443..41112198-chr19:41139975..41141049,7	K562	blood:
11	chr19:40949457..40951566-chr19:41109305..41111176,2	K562	blood:
12	chr19:41110008..41112738-chr19:41221401..41222982,2	MCF-7	breast:
13	chr19:41031800..41041078-chr19:41106134..41114466,15	K562	blood:
14	chr19:41029343..41031510-chr19:41110822..41112773,2	K562	blood:
15	chr19:41082664..41084577-chr19:41109674..41112272,3	K562	blood:
16	chr19:41074602..41077015-chr19:41107246..41111753,6	K562	blood:
17	chr19:41108422..41113817-chr19:41128876..41134100,7	MCF-7	breast:
18	chr19:40970640..40973195-chr19:41107920..41111386,3	K562	blood:
19	chr19:40947808..40950751-chr19:41110223..41112466,3	MCF-7	breast:
20	chr19:41109366..41111519-chr19:41767737..41769889,2	MCF-7	breast:
21	chr19:40930494..40933522-chr19:41110007..41112597,3	K562	blood:
22	chr19:40927815..40929486-chr19:41109339..41111164,2	K562	blood:
23	chr19:40970298..40972674-chr19:41110467..41112716,3	MCF-7	breast:

Variant related genes	Relation type
LTBP4	TF binding region
ENSG00000197019	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10402698	0.80[ASN][1000 genomes]
rs10403467	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10403833	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10403963	0.93[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10405930	0.87[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10410606	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1051303	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11083561	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1131620	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11667706	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11667772	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12610819	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs12611045	0.96[ASN][1000 genomes]
rs12980111	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1318544	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1864074	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1864078	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1869712	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2278242	0.83[CHB][hapmap]
rs2278246	0.96[ASN][1000 genomes]
rs2303727	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2369006	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2604902	0.86[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28571670	0.82[AMR][1000 genomes]
rs28649715	0.96[ASN][1000 genomes]
rs28655571	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs392726	0.81[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs393569	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs396118	0.87[ASN][1000 genomes]
rs404584	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs406133	0.83[ASN][1000 genomes]
rs410101	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs413901	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs415075	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs420720	0.86[ASN][1000 genomes]
rs4803348	0.96[ASN][1000 genomes]
rs56353506	0.96[ASN][1000 genomes]
rs7171	0.88[ASN][1000 genomes]
rs7259067	0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7259237	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs7259554	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs8107014	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs919307	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv911725	chr19:41090190-41114065	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2303729	ELSPBP1	cis	cerebellum	SCAN
rs2303729	SHKBP1	Cis_1M	lymphoblastoid	RTeQTL
rs2303729	ZNF296	cis	cerebellum	SCAN
rs2303729	CA11	cis	cerebellum	SCAN
rs2303729	ZNF155	cis	cerebellum	SCAN
rs2303729	GSK3A	cis	cerebellum	SCAN
rs2303729	B9D2	cis	parietal	SCAN
rs2303729	CEACAM6	cis	cerebellum	SCAN
rs2303729	PGLYRP1	cis	cerebellum	SCAN
rs2303729	SHKBP1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41106000-41136800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41108800-41111600	Enhancers	Stomach Mucosa	stomach
3	chr19:41109200-41112000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:41109200-41112200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:41109200-41112200	Flanking Active TSS	Dnd41	blood
6	chr19:41109200-41112400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr19:41109200-41112400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr19:41109400-41111400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr19:41109400-41112200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:41109400-41112400	Flanking Active TSS	HMEC	breast
11	chr19:41109400-41112400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr19:41109600-41111200	Enhancers	Spleen	Spleen
13	chr19:41109600-41111600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:41109600-41111600	Enhancers	Fetal Heart	heart
15	chr19:41109600-41112200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:41109600-41112200	Active TSS	HSMM	muscle
17	chr19:41109600-41112400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:41109600-41112600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:41109600-41113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:41109800-41111200	Enhancers	Gastric	stomach
21	chr19:41109800-41122600	Weak transcription	Aorta	Aorta
22	chr19:41110000-41111200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:41110000-41111200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr19:41110000-41111200	Flanking Active TSS	Hela-S3	cervix
25	chr19:41110000-41111400	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr19:41110000-41111400	Flanking Active TSS	GM12878-XiMat	blood
27	chr19:41110000-41112000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr19:41110000-41112000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr19:41110000-41112200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr19:41110000-41112200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:41110000-41112200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:41110000-41112600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:41110000-41112600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:41110000-41118200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:41110200-41111200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:41110200-41111200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr19:41110200-41111200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:41110200-41111200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr19:41110200-41111200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr19:41110200-41111200	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr19:41110200-41111400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr19:41110200-41111400	Flanking Active TSS	A549	lung
43	chr19:41110200-41111400	Enhancers	NHLF	lung
44	chr19:41110200-41111600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:41110200-41112200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:41110200-41112200	Flanking Active TSS	Colonic Mucosa	Colon
47	chr19:41110200-41112200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:41110200-41112600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr19:41110400-41111200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:41110400-41111200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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