Variant report

Variant	rs6950845
Chromosome Location	chr7:7685057-7685058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7683722..7685849-chr7:7692076..7694562,2	MCF-7	breast:
2	chr7:7675254..7676808-chr7:7682969..7685532,2	MCF-7	breast:
3	chr7:7679025..7680643-chr7:7683865..7686484,2	MCF-7	breast:
4	chr7:7676999..7684981-chr7:7684990..7693882,16	K562	blood:

Variant related genes	Relation type
ENSG00000219545	Chromatin interaction
ENSG00000106399	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1045580	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs10486185	1.00[CHB][hapmap]
rs11761559	1.00[CHB][hapmap]
rs11762695	1.00[CHB][hapmap]
rs11763947	1.00[CHB][hapmap]
rs13234396	1.00[CHB][hapmap]
rs13245945	1.00[CHB][hapmap]
rs1468760	1.00[CHB][hapmap]
rs1468761	1.00[CHB][hapmap]
rs17136437	1.00[CHB][hapmap]
rs17136498	1.00[CHB][hapmap]
rs17169194	0.81[JPT][hapmap]
rs17169361	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17169495	1.00[CHB][hapmap]
rs17169553	1.00[CHB][hapmap]
rs17169565	1.00[CHB][hapmap]
rs17546242	1.00[CHB][hapmap]
rs1859602	1.00[CHB][hapmap]
rs1859603	1.00[CHB][hapmap]
rs1859604	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2110554	1.00[CHB][hapmap]
rs28915973	1.00[CHB][hapmap]
rs28916271	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs28916278	0.86[ASN][1000 genomes]
rs28992773	1.00[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs28992774	0.83[ASN][1000 genomes]
rs3757526	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs4720745	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs4720746	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs4720747	1.00[CHB][hapmap]
rs62451449	0.86[ASN][1000 genomes]
rs62451450	0.86[ASN][1000 genomes]
rs62452504	0.83[ASN][1000 genomes]
rs62452508	0.80[ASN][1000 genomes]
rs62452509	0.80[ASN][1000 genomes]
rs6955005	0.89[ASN][1000 genomes]
rs6955624	1.00[CHB][hapmap]
rs6964727	1.00[CHB][hapmap]
rs6972655	1.00[CHB][hapmap]
rs7791543	1.00[CHB][hapmap]
rs7794467	1.00[CHB][hapmap]
rs7800009	1.00[CHB][hapmap]
rs7810800	1.00[CHB][hapmap]
rs9692373	1.00[CHB][hapmap]
rs9692400	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681400-7685600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:7681400-7685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:7681400-7688600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:7681400-7688600	Weak transcription	Ovary	ovary
5	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:7681600-7685400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
9	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
10	chr7:7681800-7685400	Weak transcription	GM12878-XiMat	blood
11	chr7:7681800-7685800	Weak transcription	Fetal Lung	lung
12	chr7:7681800-7686000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:7681800-7686200	Weak transcription	Fetal Stomach	stomach
14	chr7:7681800-7692600	Weak transcription	Primary T cells from cord blood	blood
15	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:7682000-7685400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:7682000-7685600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:7682000-7685600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:7682000-7686800	Weak transcription	Right Ventricle	heart
20	chr7:7682000-7687200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:7682000-7687800	Weak transcription	Esophagus	oesophagus
22	chr7:7682000-7689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:7682000-7690200	Weak transcription	Liver	Liver
24	chr7:7682000-7691000	Weak transcription	Fetal Kidney	kidney
25	chr7:7682000-7692600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas
29	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
30	chr7:7682200-7685600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:7682200-7685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:7682200-7686400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:7682200-7687000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:7682200-7687200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:7682200-7687200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:7682400-7685600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:7682400-7691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:7682600-7685600	Weak transcription	Thymus	Thymus
40	chr7:7682600-7687400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:7682600-7687600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:7682600-7689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:7682600-7689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:7682600-7689600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:7682800-7689800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:7683000-7685600	Weak transcription	Dnd41	blood
47	chr7:7683000-7686400	Weak transcription	HepG2	liver
48	chr7:7683000-7687000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:7683200-7685600	Weak transcription	Gastric	stomach
50	chr7:7683200-7686400	Weak transcription	Pancreas	Pancrea

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