Variant report

Variant	rs2021965
Chromosome Location	chr14:103997248-103997249
allele	G/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	REST	chr14:103996319-103997648	ECC-1	luminal epithelium:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
2	POLR2A	chr14:103997025-103997799	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr14:103995321-103997714	U87	brain:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957 chr14:103995670-103995683
4	REST	chr14:103996471-103997448	HCT-116	colon:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
5	REST	chr14:103996526-103997340	HL-60	blood:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
6	REST	chr14:103995143-103997478	A549	lung:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957 chr14:103995670-103995683
7	ELF1	chr14:103994419-103997638	MCF-7	breast:	n/a	chr14:103995523-103995532 chr14:103995487-103995496 chr14:103995544-103995553 chr14:103995522-103995533 chr14:103995540-103995552 chr14:103995488-103995500 chr14:103995541-103995550
8	REST	chr14:103996580-103997353	A549	lung:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
9	POLR2A	chr14:103996828-103997789	GM12878	blood:	n/a	n/a
10	REST	chr14:103996585-103997369	PANC-1	pancreas:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
11	REST	chr14:103996283-103997503	MCF-7	breast:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
12	POLR2A	chr14:103997103-103997354	K562	blood:	n/a	n/a
13	REST	chr14:103996648-103997436	GM12878	blood:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
14	REST	chr14:103996026-103997712	U87	brain:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
15	REST	chr14:103996395-103997579	ECC-1	luminal epithelium:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
16	REST	chr14:103996620-103997377	H1-hESC	embryonic stem cell:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
17	REST	chr14:103995193-103997535	MCF-7	breast:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957 chr14:103995670-103995683
18	POLR2A	chr14:103996812-103997431	HepG2	liver:	n/a	n/a
19	ZNF263	chr14:103996668-103997593	HEK293-T-REx	kidney:	n/a	n/a
20	REST	chr14:103996576-103997351	HCT-116	colon:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
21	MXI1	chr14:103994501-103997427	IMR90	lung:	n/a	n/a
22	TEAD4	chr14:103996606-103997329	A549	lung:	n/a	n/a
23	REST	chr14:103996685-103997376	PANC-1	pancreas:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
24	REST	chr14:103995941-103997641	HL-60	blood:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
25	REST	chr14:103996489-103997379	K562	blood:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
26	REST	chr14:103996439-103997363	PFSK-1	brain:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
27	REST	chr14:103996533-103997405	PFSK-1	brain:	n/a	chr14:103997267-103997287 chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957

No.	Distal block	Cell Line	Cell type
1	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
2	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:
3	chr14:103951483..103953028-chr14:103997135..103999306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260285	TF binding region
ENSG00000166170	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000256053	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11160752	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625172	0.81[ASN][1000 genomes]
rs12147596	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12880077	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12880224	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12885714	0.87[ASN][1000 genomes]
rs12885786	0.87[ASN][1000 genomes]
rs12891360	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12893668	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12896919	0.83[ASN][1000 genomes]
rs13987	0.87[ASN][1000 genomes]
rs17617832	0.81[ASN][1000 genomes]
rs17617935	0.84[ASN][1000 genomes]
rs17680085	0.84[ASN][1000 genomes]
rs2236281	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296487	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403194	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2756138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765041	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34235720	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34347076	0.84[ASN][1000 genomes]
rs34372508	0.88[ASN][1000 genomes]
rs35126287	0.84[ASN][1000 genomes]
rs35344594	0.84[ASN][1000 genomes]
rs35466180	0.81[ASN][1000 genomes]
rs35771849	0.81[ASN][1000 genomes]
rs3783397	0.81[ASN][1000 genomes]
rs3783400	0.87[ASN][1000 genomes]
rs4906330	0.87[ASN][1000 genomes]
rs4906331	0.87[ASN][1000 genomes]
rs4906332	0.88[ASN][1000 genomes]
rs55930273	0.82[ASN][1000 genomes]
rs7140558	0.83[EUR][1000 genomes]
rs71417863	0.81[ASN][1000 genomes]
rs7159665	0.90[ASN][1000 genomes]
rs7161305	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7401563	0.84[ASN][1000 genomes]
rs8004501	0.81[ASN][1000 genomes]
rs8012127	0.81[ASN][1000 genomes]
rs8012623	0.81[ASN][1000 genomes]
rs911549	0.82[ASN][1000 genomes]
rs9324063	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	83 gene(s)	inside rSNPs	diseases
11	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv902301	chr14:103979953-104003094	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	esv1850440	chr14:103979953-104007555	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
16	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
17	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers 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
19	nsv902306	chr14:103984294-104003094	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv902307	chr14:103986155-104003094	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	esv1824096	chr14:103986255-103999371	Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
23	esv1842368	chr14:103986255-103999371	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
24	esv1834291	chr14:103987140-103999371	Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
25	esv1839917	chr14:103987140-103999371	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
26	esv1845597	chr14:103987140-103999371	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
27	esv1851656	chr14:103987140-104007555	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
28	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
29	esv1809007	chr14:103988059-103999371	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
30	esv1818214	chr14:103988059-103999371	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
31	esv1837939	chr14:103988059-103999371	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
32	esv1846909	chr14:103988059-103999371	Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
33	esv1794331	chr14:103988059-104004311	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
34	nsv566021	chr14:103989639-104012982	Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
35	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
36	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2021965	C14orf172	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103995800-104001400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:103996200-103997800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:103996200-104000200	Weak transcription	Aorta	Aorta
4	chr14:103996400-103997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:103996400-103997400	Enhancers	Stomach Mucosa	stomach
6	chr14:103996400-103997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:103996400-103997600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr14:103996400-103997800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:103996400-103997800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:103996400-103997800	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr14:103996400-103998000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:103996400-103998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:103996400-104000400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:103996400-104000800	Genic enhancers	Fetal Intestine Large	intestine
15	chr14:103996600-103997400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:103996600-103997400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:103996600-103997400	Genic enhancers	Brain Anterior Caudate	brain
18	chr14:103996600-103997400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr14:103996600-103997400	Enhancers	Right Ventricle	heart
20	chr14:103996600-103997400	Genic enhancers	HMEC	breast
21	chr14:103996600-103997400	Enhancers	NH-A	brain
22	chr14:103996600-103997400	Enhancers	Osteobl	bone
23	chr14:103996600-103997600	Genic enhancers	Brain Germinal Matrix	brain
24	chr14:103996600-103997800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:103996600-103997800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:103996600-103997800	Enhancers	Brain Substantia Nigra	brain
27	chr14:103996600-103997800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
28	chr14:103996600-103998000	Enhancers	Liver	Liver
29	chr14:103996600-103998000	Genic enhancers	Gastric	stomach
30	chr14:103996600-103998200	Genic enhancers	Esophagus	oesophagus
31	chr14:103996600-103998400	Genic enhancers	Lung	lung
32	chr14:103996600-103998800	Weak transcription	Thymus	Thymus
33	chr14:103996600-103998800	Genic enhancers	Spleen	Spleen
34	chr14:103996600-103999000	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr14:103996600-103999400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:103996600-104000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:103996600-104001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:103996600-104002800	Genic enhancers	Fetal Stomach	stomach
39	chr14:103996800-103997400	Enhancers	Adipose Nuclei	Adipose
40	chr14:103996800-103997400	Genic enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:103996800-103997600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:103996800-103997600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:103996800-103997800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:103996800-103997800	Genic enhancers	Primary T cells from cord blood	blood
45	chr14:103996800-103997800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:103996800-103997800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
47	chr14:103996800-103997800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr14:103996800-103998000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:103996800-103998600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:103996800-103998600	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links