Variant report

Variant	rs28916271
Chromosome Location	chr7:7692767-7692768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7683722..7685849-chr7:7692076..7694562,2	MCF-7	breast:
2	chr7:7676999..7684981-chr7:7684990..7693882,16	K562	blood:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000219545	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1045580	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs10486180	1.00[ASW][hapmap]
rs10486185	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11761559	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11762695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11763947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11771027	1.00[AFR][1000 genomes]
rs13234396	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes]
rs13245945	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap]
rs1468760	1.00[CHB][hapmap]
rs1468761	1.00[CHB][hapmap]
rs17136437	1.00[CHB][hapmap]
rs17136498	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap]
rs17137078	1.00[ASW][hapmap]
rs17137125	1.00[ASW][hapmap]
rs17137154	1.00[ASW][hapmap]
rs17169194	0.89[CHD][hapmap];0.89[JPT][hapmap];0.87[MKK][hapmap]
rs17169361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17169446	1.00[AFR][1000 genomes]
rs17169495	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17169553	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17169565	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466737	0.87[MKK][hapmap]
rs17546242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1859602	1.00[CHB][hapmap]
rs1859603	1.00[CHB][hapmap]
rs1859604	1.00[CHB][hapmap]
rs2110554	1.00[CHB][hapmap]
rs28912694	1.00[AFR][1000 genomes]
rs28915072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28915973	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs28915985	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28916278	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28992771	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs28992773	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28992774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35639902	1.00[AFR][1000 genomes]
rs3757526	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.90[ASN][1000 genomes]
rs4720745	1.00[CHB][hapmap]
rs4720746	1.00[CHB][hapmap]
rs4720747	1.00[CHB][hapmap]
rs62432576	1.00[AFR][1000 genomes]
rs62432579	1.00[AFR][1000 genomes]
rs62432580	1.00[AFR][1000 genomes]
rs62432581	1.00[AFR][1000 genomes]
rs62451449	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62451450	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62452504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62452508	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62452509	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62452512	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62452515	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6950845	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs6955624	1.00[CHB][hapmap]
rs6964727	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6972655	1.00[CHB][hapmap]
rs7791543	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794467	1.00[CHB][hapmap]
rs7800009	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7810800	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9648617	1.00[AFR][1000 genomes]
rs9692373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
2	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
3	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas
7	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
8	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:7686600-7701200	Weak transcription	Fetal Stomach	stomach
10	chr7:7687600-7696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:7689400-7693600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:7689600-7694200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:7690400-7693600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:7690400-7693800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:7690600-7713800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:7690800-7693000	Enhancers	NHDF-Ad	bronchial
18	chr7:7691000-7692800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:7691000-7693200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:7691000-7693400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:7691200-7693000	Weak transcription	Gastric	stomach
22	chr7:7691200-7693000	Enhancers	HepG2	liver
23	chr7:7691200-7693600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:7691200-7701200	Weak transcription	Fetal Intestine Small	intestine
25	chr7:7691800-7693000	Enhancers	A549	lung
26	chr7:7691800-7693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:7692000-7693000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:7692000-7693200	Weak transcription	K562	blood
30	chr7:7692400-7692800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:7692400-7693000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:7692400-7693200	Weak transcription	Fetal Thymus	thymus
33	chr7:7692400-7693200	Weak transcription	Thymus	Thymus
34	chr7:7692400-7693600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:7692400-7694600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:7692600-7692800	Enhancers	Primary T cells from cord blood	blood
38	chr7:7692600-7693000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:7692600-7693000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:7692600-7693800	Enhancers	Hela-S3	cervix

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