Variant report

Variant	rs649148
Chromosome Location	chr6:80955728-80955729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80951610..80958338-chr6:80959333..80963216,7	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1040593	0.83[ASN][1000 genomes]
rs1179571	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525046	1.00[ASN][1000 genomes]
rs12526876	1.00[ASN][1000 genomes]
rs12527244	1.00[ASN][1000 genomes]
rs12527712	1.00[ASN][1000 genomes]
rs12530290	1.00[ASN][1000 genomes]
rs16891532	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16891545	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4706829	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706830	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755254	1.00[ASN][1000 genomes]
rs57913486	1.00[ASN][1000 genomes]
rs57985210	1.00[ASN][1000 genomes]
rs584372	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585506	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587999	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588009	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590686	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595494	0.95[EUR][1000 genomes]
rs598234	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59973779	1.00[ASN][1000 genomes]
rs604732	0.95[EUR][1000 genomes]
rs610946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623085	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs631314	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs631367	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634499	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636499	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638921	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641229	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642943	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644666	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6454149	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646369	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651065	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652576	0.97[EUR][1000 genomes]
rs66518170	1.00[ASN][1000 genomes]
rs66560352	1.00[ASN][1000 genomes]
rs66606872	0.86[ASN][1000 genomes]
rs669420	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670119	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670390	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671614	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67379633	1.00[ASN][1000 genomes]
rs67456645	1.00[ASN][1000 genomes]
rs67597629	1.00[ASN][1000 genomes]
rs67632695	1.00[ASN][1000 genomes]
rs677134	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67851250	1.00[ASN][1000 genomes]
rs67988458	1.00[ASN][1000 genomes]
rs685902	0.95[EUR][1000 genomes]
rs687702	0.82[EUR][1000 genomes]
rs688442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906403	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908084	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920430	0.83[ASN][1000 genomes]
rs6924011	1.00[ASN][1000 genomes]
rs723308	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892417	1.00[ASN][1000 genomes]
rs72892426	1.00[ASN][1000 genomes]
rs72892441	1.00[ASN][1000 genomes]
rs72892456	1.00[ASN][1000 genomes]
rs72892458	1.00[ASN][1000 genomes]
rs72908809	1.00[ASN][1000 genomes]
rs72908854	1.00[ASN][1000 genomes]
rs73479994	1.00[ASN][1000 genomes]
rs764442	1.00[ASN][1000 genomes]
rs7757610	1.00[ASN][1000 genomes]
rs7771047	0.83[AFR][1000 genomes]
rs7771726	1.00[ASN][1000 genomes]
rs7772483	1.00[ASN][1000 genomes]
rs806781	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806839	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806844	0.83[ASN][1000 genomes]
rs806846	0.83[ASN][1000 genomes]
rs806850	0.83[ASN][1000 genomes]
rs811567	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932463	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443739	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688524	1.00[ASN][1000 genomes]
rs9688535	1.00[ASN][1000 genomes]

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80914600-80980400	Weak transcription	Ovary	ovary
2	chr6:80915800-80956000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:80921400-80973200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:80922200-80964200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:80924000-80968400	Weak transcription	Gastric	stomach
6	chr6:80924000-80976000	Weak transcription	HSMM	muscle
7	chr6:80927800-80959800	Weak transcription	Aorta	Aorta
8	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
9	chr6:80932800-80956200	Weak transcription	Lung	lung
10	chr6:80938000-80956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:80939000-80974800	Weak transcription	Primary T cells from cord blood	blood
12	chr6:80939200-80959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:80940600-80964200	Weak transcription	Liver	Liver
14	chr6:80944000-80960000	Weak transcription	Psoas Muscle	Psoas
15	chr6:80944000-80982800	Weak transcription	Pancreas	Pancrea
16	chr6:80944400-80961600	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
18	chr6:80945800-80956400	Weak transcription	Fetal Heart	heart
19	chr6:80951400-80959800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:80952200-80956600	Weak transcription	Brain Angular Gyrus	brain
21	chr6:80952800-80960200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:80953800-80957000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:80954400-80960000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:80954600-80956000	Enhancers	K562	blood
25	chr6:80954800-80956000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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