Variant report

Variant	rs2756138
Chromosome Location	chr14:103996733-103996734
allele	C/G
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	chr14:103996699-103997209	Hela-S3	cervix:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
2	REST	chr14:103996646-103997236	SK-N-SH	brain:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
3	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
4	REST	chr14:103996719-103997086	HepG2	liver:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
5	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
6	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
7	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
8	REST	chr14:103996720-103997131	HepG2	liver:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
9	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
10	RCOR1	chr14:103996534-103997192	IMR90	lung:	n/a	n/a
11	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
12	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
13	REST	chr14:103996579-103997122	SK-N-SH	brain:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
14	SMARCB1	chr14:103995081-103997015	Hela-S3	cervix:	n/a	n/a
15	REST	chr14:103996687-103997197	PANC-1	pancreas:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
16	SIN3A	chr14:103996631-103997134	H1-hESC	embryonic stem cell:	n/a	chr14:103996937-103996950 chr14:103996969-103996983 chr14:103996942-103996956
17	REST	chr14:103996705-103997068	PANC-1	pancreas:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	ZNF263	chr14:103996668-103997593	HEK293-T-REx	kidney:	n/a	n/a
26	REST	chr14:103996631-103997219	H1-hESC	embryonic stem cell:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
27	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
28	REST	chr14:103996722-103997194	HepG2	liver:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
29	SIN3AK20	chr14:103996726-103997095	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr14:103996677-103997234	PFSK-1	brain:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
31	REST	chr14:103996731-103997174	GM12878	blood:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
32	CBX3	chr14:103996721-103997075	K562	blood:	n/a	n/a
33	REST	chr14:103996698-103997170	HepG2	liver:	n/a	chr14:103996914-103996927 chr14:103996943-103996957 chr14:103996937-103996957 chr14:103996937-103996946 chr14:103996970-103996984 chr14:103996937-103996957 chr14:103996937-103996957
34	MXI1	chr14:103994392-103997122	SK-N-SH	brain:	n/a	n/a
35	MXI1	chr14:103994501-103997427	IMR90	lung:	n/a	n/a
36	TEAD4	chr14:103996606-103997329	A549	lung:	n/a	n/a
37	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
38	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
39	NR2F2	chr14:103996655-103997044	K562	blood:	n/a	n/a
40	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
41	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
42	POLR2A	chr14:103995153-103996770	Hela-S3	cervix:	n/a	n/a
43	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
44	REST	chr14:103996691-103997217	Hela-S3	cervix:	n/a	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	chr14:103994810..103997176-chr14:104176629..104178794,2	MCF-7	breast:
2	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
3	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:
4	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:

Variant related genes	Relation type
ENSG00000260285	TF binding region
ENSG00000166170	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000224997	Chromatin interaction
ENSG00000256053	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459573	0.85[CHB][hapmap];1.00[JPT][hapmap]
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]
rs12879663	0.90[CHD][hapmap];0.94[JPT][hapmap]
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]
rs12885234	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12885714	0.87[ASN][1000 genomes]
rs12885762	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12885786	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12891360	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12892062	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12893668	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12896612	0.94[JPT][hapmap]
rs12896919	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13987	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17617832	0.81[ASN][1000 genomes]
rs17617935	0.84[ASN][1000 genomes]
rs17680085	0.84[ASN][1000 genomes]
rs2021965	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065015	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs2065017	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2065018	0.85[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap]
rs2236281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];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]
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]
rs4906327	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4906330	0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4906331	0.80[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4906332	0.88[ASN][1000 genomes]
rs55930273	0.82[ASN][1000 genomes]
rs7140558	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs71417863	0.81[ASN][1000 genomes]
rs7155822	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7159665	0.90[ASN][1000 genomes]
rs7161305	1.00[CEU][hapmap];0.83[JPT][hapmap];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	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8012623	0.81[ASN][1000 genomes]
rs911549	0.82[ASN][1000 genomes]
rs9324063	0.96[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];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
rs2756138	C14orf172	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103994400-103996800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:103994600-103996800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:103994600-103996800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:103994600-103996800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:103995200-103996800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:103995600-103996800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:103995600-103996800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr14:103995600-103996800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:103995600-103997000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr14:103995800-103996800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:103995800-103996800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr14:103995800-103996800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr14:103995800-103996800	Flanking Active TSS	Colonic Mucosa	Colon
14	chr14:103995800-103996800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr14:103995800-103997000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:103995800-103997000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:103995800-103997200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr14:103995800-104001400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:103996000-103996800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:103996000-103996800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:103996000-103996800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:103996000-103996800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:103996000-103996800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr14:103996000-103996800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:103996000-103997000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr14:103996000-103997000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:103996000-103997000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:103996000-103997200	Flanking Active TSS	Hela-S3	cervix
29	chr14:103996200-103996800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:103996200-103996800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:103996200-103997000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr14:103996200-103997000	Enhancers	Small Intestine	intestine
33	chr14:103996200-103997000	Flanking Active TSS	HepG2	liver
34	chr14:103996200-103997000	Transcr. at gene 5' and 3'	NHLF	lung
35	chr14:103996200-103997200	Enhancers	Fetal Heart	heart
36	chr14:103996200-103997200	Enhancers	Right Atrium	heart
37	chr14:103996200-103997200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:103996200-103997200	Flanking Active TSS	GM12878-XiMat	blood
39	chr14:103996200-103997800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:103996200-104000200	Weak transcription	Aorta	Aorta
41	chr14:103996400-103996800	Enhancers	Primary B cells from cord blood	blood
42	chr14:103996400-103996800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:103996400-103996800	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:103996400-103996800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
45	chr14:103996400-103996800	Enhancers	Fetal Lung	lung
46	chr14:103996400-103996800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:103996400-103997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:103996400-103997000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:103996400-103997000	Enhancers	Primary B cells from peripheral blood	blood
50	chr14:103996400-103997000	Enhancers	Fetal Brain Male	brain

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