Variant report

Variant	rs8051096
Chromosome Location	chr16:30347731-30347732
allele	A/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	HNF4G	chr16:30347186-30347796	HepG2	liver:	n/a	chr16:30347570-30347583 chr16:30347482-30347497 chr16:30347571-30347584 chr16:30347484-30347499 chr16:30347571-30347584 chr16:30347571-30347583 chr16:30347571-30347583 chr16:30347569-30347584
2	TEAD4	chr16:30346994-30347950	HepG2	liver:	n/a	n/a
3	HNF4A	chr16:30347183-30347764	HepG2	liver:	n/a	chr16:30347570-30347583 chr16:30347571-30347584 chr16:30347484-30347499 chr16:30347483-30347498 chr16:30347571-30347584 chr16:30347571-30347583 chr16:30347571-30347583 chr16:30347569-30347584
4	MXI1	chr16:30346525-30347761	HepG2	liver:	n/a	n/a
5	HDAC2	chr16:30346989-30347755	HepG2	liver:	n/a	n/a
6	MBD4	chr16:30346836-30348019	HepG2	liver:	n/a	n/a
7	MBD4	chr16:30347216-30347772	HepG2	liver:	n/a	n/a
8	EP300	chr16:30347156-30347843	HepG2	liver:	n/a	n/a
9	HEY1	chr16:30345511-30348032	HepG2	liver:	n/a	chr16:30346714-30346729
10	HEY1	chr16:30345444-30348016	HepG2	liver:	n/a	chr16:30346714-30346729
11	POLR2A	chr16:30347125-30347873	HepG2	liver:	n/a	n/a
12	REST	chr16:30347338-30347764	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:30346520-30347972	HepG2	liver:	n/a	n/a
14	TCF12	chr16:30347259-30347758	HepG2	liver:	n/a	n/a
15	HNF4A	chr16:30347165-30347781	HepG2	liver:	n/a	chr16:30347570-30347583 chr16:30347571-30347584 chr16:30347484-30347499 chr16:30347483-30347498 chr16:30347571-30347584 chr16:30347571-30347583 chr16:30347571-30347583 chr16:30347569-30347584
16	SP1	chr16:30347064-30347906	HepG2	liver:	n/a	chr16:30347396-30347406 chr16:30347397-30347406 chr16:30347396-30347410 chr16:30347395-30347407 chr16:30347395-30347407
17	TAF1	chr16:30347072-30347835	HepG2	liver:	n/a	n/a
18	YY1	chr16:30347107-30348269	HepG2	liver:	n/a	n/a
19	FOXA1	chr16:30347268-30347776	HepG2	liver:	n/a	n/a
20	TBP	chr16:30347152-30347893	HepG2	liver:	n/a	n/a
21	FOXA1	chr16:30347192-30347810	HepG2	liver:	n/a	n/a
22	NFIC	chr16:30347030-30347990	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:30346007-30348661	HepG2	liver:	n/a	n/a
24	FOXA1	chr16:30347251-30347781	HepG2	liver:	n/a	n/a
25	REST	chr16:30346436-30347830	HepG2	liver:	n/a	chr16:30347307-30347327 chr16:30347307-30347327 chr16:30347313-30347327
26	HNF4G	chr16:30347161-30347824	HepG2	liver:	n/a	chr16:30347570-30347583 chr16:30347482-30347497 chr16:30347571-30347584 chr16:30347484-30347499 chr16:30347571-30347584 chr16:30347571-30347583 chr16:30347571-30347583 chr16:30347569-30347584
27	POLR2A	chr16:30345643-30347961	HepG2	liver:	n/a	n/a
28	SIN3AK20	chr16:30347012-30347759	HepG2	liver:	n/a	n/a
29	CEBPD	chr16:30347129-30347764	HepG2	liver:	n/a	n/a
30	MYBL2	chr16:30347048-30348137	HepG2	liver:	n/a	n/a
31	TAF1	chr16:30347056-30347916	HepG2	liver:	n/a	n/a
32	USF1	chr16:30347351-30347790	HepG2	liver:	n/a	n/a
33	FOSL2	chr16:30347064-30347961	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:30346496-30347859	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr16:30347113-30347906	HepG2	liver:	n/a	n/a
36	JUND	chr16:30347275-30347888	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:30347035-30347874	HepG2	liver:	n/a	n/a
38	HNF4A	chr16:30347284-30347746	HepG2	liver:	n/a	chr16:30347570-30347583 chr16:30347571-30347584 chr16:30347484-30347499 chr16:30347483-30347498 chr16:30347571-30347584 chr16:30347571-30347583 chr16:30347571-30347583 chr16:30347569-30347584
39	SP2	chr16:30347256-30347900	HepG2	liver:	n/a	n/a
40	MYBL2	chr16:30345542-30348063	HepG2	liver:	n/a	n/a
41	RXRA	chr16:30347123-30347849	HepG2	liver:	n/a	chr16:30347515-30347535 chr16:30347571-30347584
42	RXRA	chr16:30347098-30347861	HepG2	liver:	n/a	chr16:30347515-30347535 chr16:30347571-30347584

No.	Distal block	Cell Line	Cell type
1	chr16:30346820..30348778-chr16:30708252..30710060,2	K562	blood:
2	chr16:30345231..30348064-chr16:30583285..30585199,2	MCF-7	breast:
3	chr16:30346170..30348596-chr16:30376800..30378752,2	MCF-7	breast:
4	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
5	chr16:30347166..30350893-chr16:30361521..30367279,6	K562	blood:
6	chr16:30347434..30350400-chr16:30361325..30364299,2	K562	blood:
7	chr16:30347495..30351048-chr16:30363113..30367497,5	MCF-7	breast:
8	chr16:30345814..30348548-chr16:30669791..30672071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183604	TF binding region
ENSG00000156860	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000180096	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11150586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11642676	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644392	0.93[ASN][1000 genomes]
rs11645581	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11646130	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11862806	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11863150	0.85[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs12446288	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs12447833	0.81[EUR][1000 genomes]
rs12921440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12922786	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13333093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2911213	0.93[ASN][1000 genomes]
rs35480350	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35598865	1.00[JPT][hapmap]
rs3574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4465620	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs4471699	0.90[ASN][1000 genomes]
rs4787642	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4787643	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs4788408	0.95[ASN][1000 genomes]
rs4788409	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs4788413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6565178	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6565180	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565182	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6565183	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68051857	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7186541	0.93[ASN][1000 genomes]
rs7195216	0.93[ASN][1000 genomes]
rs7203359	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7404371	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8046445	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8048666	0.88[AFR][1000 genomes]
rs8049108	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8050176	0.95[ASN][1000 genomes]
rs8050812	1.00[JPT][hapmap]
rs8060853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	229 gene(s)	inside rSNPs	diseases
4	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
6	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv3439168	chr16:30345276-30348024	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8051096	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL
rs8051096	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30346800-30347800	Flanking Active TSS	Dnd41	blood
2	chr16:30346800-30347800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr16:30346800-30349200	Enhancers	Spleen	Spleen
4	chr16:30346800-30361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:30347000-30347800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:30347000-30347800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr16:30347000-30347800	Enhancers	Stomach Mucosa	stomach
8	chr16:30347000-30347800	Flanking Active TSS	Hela-S3	cervix
9	chr16:30347000-30348000	Enhancers	Small Intestine	intestine
10	chr16:30347200-30347800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:30347200-30347800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:30347200-30347800	Enhancers	Left Ventricle	heart
13	chr16:30347200-30347800	Enhancers	Lung	lung
14	chr16:30347200-30347800	Enhancers	Right Ventricle	heart
15	chr16:30347200-30347800	Bivalent/Poised TSS	HepG2	liver
16	chr16:30347200-30348000	Enhancers	Primary B cells from cord blood	blood
17	chr16:30347200-30349000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:30347200-30349200	Enhancers	Primary hematopoietic stem cells	blood
19	chr16:30347200-30352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:30347200-30361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:30347400-30347800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:30347400-30347800	Enhancers	Primary T cells from cord blood	blood
23	chr16:30347400-30347800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr16:30347400-30347800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr16:30347400-30347800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr16:30347400-30347800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:30347400-30347800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:30347400-30347800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr16:30347400-30347800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:30347400-30347800	Enhancers	HMEC	breast
31	chr16:30347400-30347800	Enhancers	HSMM	muscle
32	chr16:30347400-30347800	Enhancers	HSMMtube	muscle
33	chr16:30347400-30348000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr16:30347400-30348000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:30347400-30348000	Enhancers	Fetal Intestine Small	intestine
36	chr16:30347400-30348000	Enhancers	Placenta	Placenta
37	chr16:30347400-30348000	Enhancers	Stomach Smooth Muscle	stomach
38	chr16:30347400-30348000	Enhancers	A549	lung
39	chr16:30347400-30348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:30347400-30348800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr16:30347400-30348800	Active TSS	Liver	Liver
42	chr16:30347400-30349200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30347400-30349600	Enhancers	Primary B cells from peripheral blood	blood
44	chr16:30347400-30360600	Weak transcription	Fetal Lung	lung
45	chr16:30347400-30361000	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:30347400-30362000	Weak transcription	Brain Substantia Nigra	brain
47	chr16:30347400-30362200	Weak transcription	Aorta	Aorta
48	chr16:30347400-30363400	Weak transcription	Brain Angular Gyrus	brain
49	chr16:30347600-30347800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:30347600-30347800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links