Variant report

Variant	rs7002479
Chromosome Location	chr8:67707420-67707421
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	chr8:67687284..67688883-chr8:67705911..67708278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs11985572	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[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	1.00[CEU][hapmap]
rs11987280	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap]
rs11988213	1.00[CEU][hapmap]
rs11988465	0.84[ASN][1000 genomes]
rs11990322	1.00[CEU][hapmap]
rs11990461	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11990636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992069	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[CEU][hapmap]
rs11992605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs11993354	1.00[CEU][hapmap]
rs11995256	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[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995814	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997260	1.00[CEU][hapmap]
rs11997967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114202	0.84[ASN][1000 genomes]
rs12114734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1367571	0.82[ASW][hapmap];0.81[YRI][hapmap]
rs16932996	1.00[CEU][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933036	1.00[CEU][hapmap]
rs16933039	0.87[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[TSI][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	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[TSI][hapmap];0.95[EUR][1000 genomes]
rs16933080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs16933097	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs16933125	1.00[CEU][hapmap]
rs16933138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs2357998	1.00[CEU][hapmap]
rs28547325	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35517376	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[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35809374	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3779995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3808602	1.00[CEU][hapmap]
rs3824258	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3929419	0.87[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[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073730	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap]
rs4613982	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55893527	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056216	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215867	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345609	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57894537	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58434561	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58653469	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991268	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59226286	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59469156	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60666237	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs60741740	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60773515	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61080934	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61085456	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6472285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472289	0.95[EUR][1000 genomes]
rs6651278	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6981761	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982137	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6982699	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6983632	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[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6984650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap]
rs6987665	1.00[CEU][hapmap]
rs6998252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	1.00[CEU][hapmap]
rs6998777	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];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002183	0.82[ASN][1000 genomes]
rs7003548	1.00[CEU][hapmap]
rs7015619	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[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017471	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[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691182	0.84[ASN][1000 genomes]
rs73691557	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691562	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691565	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691571	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691572	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691578	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691579	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691582	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691586	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693615	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73693631	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73693632	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7815142	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7815863	0.90[EUR][1000 genomes]
rs7820403	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7820420	1.00[JPT][hapmap]
rs7824775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap]
rs7842770	0.90[EUR][1000 genomes]
rs979679	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[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9918866	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap]
rs9918869	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67688000-67713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67688000-67783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67688200-67738000	Weak transcription	HSMM	muscle
4	chr8:67688400-67730400	Weak transcription	HSMMtube	muscle
5	chr8:67688800-67709800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:67689000-67782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:67689800-67709600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:67691600-67730600	Weak transcription	Fetal Stomach	stomach
9	chr8:67695400-67721600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:67696400-67709600	Weak transcription	Ovary	ovary
11	chr8:67696600-67711000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:67696600-67711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:67696600-67711400	Weak transcription	Esophagus	oesophagus
14	chr8:67696600-67713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:67696600-67713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:67696600-67718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:67696600-67721400	Weak transcription	HMEC	breast
18	chr8:67696600-67742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67696600-67767200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:67696800-67708600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:67696800-67712800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:67696800-67718000	Weak transcription	NHEK	skin
23	chr8:67696800-67783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:67697400-67718400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:67698200-67710800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:67698200-67719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:67699000-67713800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:67700400-67758600	Weak transcription	Right Ventricle	heart
29	chr8:67701000-67713800	Weak transcription	Small Intestine	intestine
30	chr8:67701200-67712200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:67701400-67711200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:67701600-67713000	Weak transcription	Dnd41	blood
33	chr8:67702000-67718800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:67702200-67720000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:67702800-67708400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:67704200-67713600	Weak transcription	Spleen	Spleen
37	chr8:67705000-67720200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:67705400-67711800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:67705600-67707800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr8:67705600-67713800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:67706000-67708000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:67706000-67708600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:67706000-67713600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:67706000-67718800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:67706200-67707800	Strong transcription	Brain Anterior Caudate	brain
46	chr8:67706200-67708400	Strong transcription	Liver	Liver
47	chr8:67706200-67713000	Weak transcription	GM12878-XiMat	blood
48	chr8:67706400-67712000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:67706400-67712600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:67706600-67707800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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