Variant report

Variant	rs7161812
Chromosome Location	chr15:31317385-31317386
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	GATA3	chr15:31317329-31317604	T-47D	breast:	n/a	chr15:31317461-31317470
2	GATA3	chr15:31316340-31317869	SK-N-SH	brain:	n/a	chr15:31317461-31317470 chr15:31316560-31316568 chr15:31316630-31316639
3	MAX	chr15:31316324-31317435	A549	lung:	n/a	n/a
4	MAZ	chr15:31316336-31317662	IMR90	lung:	n/a	n/a
5	GATA3	chr15:31316290-31317779	SK-N-SH	brain:	n/a	chr15:31317461-31317470 chr15:31316560-31316568 chr15:31316630-31316639
6	CEBPB	chr15:31316515-31317481	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:31317249-31317585	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr15:31317248-31317783	SH-SY5Y	brain:	n/a	chr15:31317461-31317470
9	TCF12	chr15:31316288-31317836	SK-N-SH	brain:	n/a	chr15:31316555-31316562
10	CTCF	chr15:31317360-31317510	AG04449	skin:	n/a	n/a
11	GATA2	chr15:31316282-31317710	HUVEC	blood vessel:	n/a	chr15:31317461-31317470 chr15:31316560-31316568 chr15:31316630-31316639
12	KAP1	chr15:31317129-31317625	U2OS	brain:	n/a	n/a
13	GATA3	chr15:31316446-31317635	A549	lung:	n/a	chr15:31317461-31317470 chr15:31316560-31316568 chr15:31316630-31316639
14	GATA2	chr15:31317222-31317766	SH-SY5Y	brain:	n/a	chr15:31317461-31317470
15	TCF12	chr15:31316328-31317749	SK-N-SH	brain:	n/a	chr15:31316555-31316562

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31316162..31318225-chr15:31318873..31321784,2	K562	blood:

Variant related genes	Relation type
ENSG00000259720	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10163148	1.00[CHB][hapmap]
rs10519726	0.82[CHB][hapmap]
rs11070678	1.00[CHB][hapmap]
rs11070718	0.92[CHB][hapmap]
rs1133642	0.90[CHB][hapmap]
rs11638295	0.92[CHB][hapmap]
rs12441318	0.84[CHB][hapmap]
rs12442333	0.82[CHB][hapmap]
rs12901022	0.92[CHB][hapmap]
rs1404468	0.92[CHB][hapmap]
rs1404469	0.92[CHB][hapmap]
rs1474381	1.00[CHB][hapmap]
rs1474382	1.00[CHB][hapmap]
rs1524876	0.92[CHB][hapmap]
rs16956341	0.82[CHB][hapmap]
rs16956362	0.82[CHB][hapmap]
rs16956366	0.82[CHB][hapmap]
rs16956414	0.82[CHB][hapmap]
rs16956422	0.82[CHB][hapmap]
rs1880499	0.92[CHB][hapmap]
rs2042613	0.90[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113946	0.92[CHB][hapmap]
rs2162070	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2272218	1.00[CHB][hapmap]
rs2272219	1.00[CHB][hapmap]
rs2293319	1.00[CHB][hapmap]
rs2293320	1.00[CHB][hapmap]
rs28583849	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28693590	1.00[CHB][hapmap]
rs2873	0.92[CHB][hapmap]
rs2949569	0.92[CHB][hapmap]
rs2949570	0.92[CHB][hapmap]
rs2949573	0.92[CHB][hapmap]
rs2949575	1.00[CHB][hapmap]
rs2949576	1.00[CHB][hapmap]
rs2949577	0.92[CHB][hapmap]
rs2949578	1.00[CHB][hapmap]
rs2955783	0.92[CHB][hapmap]
rs2955787	1.00[CHB][hapmap]
rs2955790	0.92[CHB][hapmap]
rs2955791	1.00[CHB][hapmap]
rs2955796	0.84[CHB][hapmap]
rs2959039	0.84[CHB][hapmap]
rs2959049	1.00[CHB][hapmap]
rs3743231	1.00[CHB][hapmap]
rs3784588	0.82[CHB][hapmap]
rs4779796	1.00[CHB][hapmap]
rs4779797	1.00[CHB][hapmap]
rs6493358	0.82[CHB][hapmap]
rs7164939	0.82[CHB][hapmap]
rs7165798	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7169064	1.00[CHB][hapmap]
rs7170710	0.92[CHB][hapmap]
rs7175951	1.00[CHB][hapmap]
rs7176351	1.00[CHB][hapmap]
rs7178375	1.00[CHB][hapmap]
rs7178533	1.00[CHB][hapmap]
rs7182143	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8040989	0.92[CHB][hapmap]
rs8041717	1.00[CHB][hapmap]
rs871312	0.82[CHB][hapmap]
rs872843	0.82[CHB][hapmap]
rs9806159	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv903835	chr15:31312743-31384797	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31311000-31319600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:31312400-31317400	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:31313600-31317800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:31314800-31317600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:31314800-31318600	Enhancers	Placenta	Placenta
6	chr15:31315000-31317600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:31315000-31318000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:31315200-31317400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:31315200-31317600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:31315200-31317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:31315200-31317800	Enhancers	Fetal Kidney	kidney
12	chr15:31315200-31317800	Enhancers	NHLF	lung
13	chr15:31315400-31317400	Enhancers	Lung	lung
14	chr15:31315400-31317400	Enhancers	NHDF-Ad	bronchial
15	chr15:31315400-31317800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:31315400-31318400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr15:31315400-31318600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:31315600-31317400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:31315600-31317400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr15:31315600-31317600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr15:31315600-31317600	Enhancers	HSMM	muscle
22	chr15:31315600-31317800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:31315600-31317800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr15:31315600-31317800	Enhancers	NH-A	brain
25	chr15:31315600-31320400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:31315800-31317400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:31315800-31317400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:31315800-31317400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:31315800-31317600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr15:31315800-31317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr15:31315800-31317800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:31315800-31319400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr15:31316000-31317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:31316000-31317600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:31316000-31317600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:31316200-31317400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:31316200-31317800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr15:31316200-31317800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:31316200-31318400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:31316400-31317400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr15:31316400-31324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:31316600-31317400	Enhancers	Esophagus	oesophagus
43	chr15:31316600-31317400	Enhancers	Fetal Heart	heart
44	chr15:31316600-31317600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr15:31316600-31317600	Flanking Active TSS	HepG2	liver
46	chr15:31316600-31317800	Enhancers	Fetal Intestine Small	intestine
47	chr15:31316600-31317800	Enhancers	HMEC	breast
48	chr15:31316600-31318200	Enhancers	Fetal Intestine Large	intestine
49	chr15:31316600-31318200	Enhancers	HUVEC	blood vessel
50	chr15:31316800-31317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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