Variant report

Variant	rs627968
Chromosome Location	chr6:80937046-80937047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80935860..80938788-chr6:80939449..80942433,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1179571	0.88[EUR][1000 genomes]
rs12525046	1.00[JPT][hapmap]
rs12526876	1.00[JPT][hapmap]
rs12527244	1.00[JPT][hapmap]
rs12527712	1.00[JPT][hapmap]
rs12528770	1.00[JPT][hapmap]
rs12529191	1.00[JPT][hapmap]
rs12530290	1.00[JPT][hapmap]
rs16891532	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16891545	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4706829	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4706830	0.88[EUR][1000 genomes]
rs584372	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs585506	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs587999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs588009	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs590686	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs595494	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs598234	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs604732	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs610946	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs612208	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs613577	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623085	0.91[EUR][1000 genomes]
rs631314	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs631367	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs634499	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs636499	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs638921	0.88[EUR][1000 genomes]
rs640568	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs641229	0.93[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs642943	0.91[EUR][1000 genomes]
rs644666	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs6454149	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs646369	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs649148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs651065	0.93[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs652576	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs669420	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs670119	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs670390	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs671614	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs677134	0.91[EUR][1000 genomes]
rs685902	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs687702	0.93[CEU][hapmap]
rs688442	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906403	0.85[EUR][1000 genomes]
rs6908084	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6924011	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs723308	0.88[EUR][1000 genomes]
rs764442	1.00[JPT][hapmap]
rs7755034	1.00[JPT][hapmap]
rs7757610	1.00[JPT][hapmap]
rs7771047	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7771726	1.00[JPT][hapmap]
rs7772483	1.00[JPT][hapmap]
rs806781	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs806839	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs806841	1.00[JPT][hapmap]
rs811567	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs932463	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9443739	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9688535	1.00[JPT][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	nsv830708	chr6:80844283-80996876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv886309	chr6:80880138-80959885	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886310	chr6:80880138-81025879	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1033452	chr6:80888667-81000213	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80896400-80943800	Weak transcription	Right Ventricle	heart
2	chr6:80909000-80940200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:80914600-80980400	Weak transcription	Ovary	ovary
4	chr6:80914800-80938400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:80914800-80938600	Weak transcription	Liver	Liver
6	chr6:80915400-80938200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:80915400-80942000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:80915800-80956000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:80920800-80943600	Weak transcription	Psoas Muscle	Psoas
10	chr6:80920800-80953800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:80921200-80940200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:80921200-80940200	Weak transcription	HSMMtube	muscle
13	chr6:80921400-80973200	Weak transcription	Primary B cells from cord blood	blood
14	chr6:80921600-80938400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:80922200-80964200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:80924000-80938400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:80924000-80942800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:80924000-80968400	Weak transcription	Gastric	stomach
19	chr6:80924000-80976000	Weak transcription	HSMM	muscle
20	chr6:80924200-80938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:80927800-80959800	Weak transcription	Aorta	Aorta
22	chr6:80929400-80938000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
24	chr6:80931800-80938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:80932800-80956200	Weak transcription	Lung	lung
26	chr6:80933600-80943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:80934400-80937200	Weak transcription	NHDF-Ad	bronchial
28	chr6:80934600-80937200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:80935000-80943600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:80935200-80939000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:80936400-80937200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:80936400-80937600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:80936600-80943600	Weak transcription	Pancreas	Pancrea
34	chr6:80936800-80943800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:80937000-80938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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