Variant report

Variant	rs3805922
Chromosome Location	chr6:80891989-80891990
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	chr6:80888084..80890010-chr6:80891656..80894939,3	K562	blood:
2	chr6:80873458..80875750-chr6:80890518..80893234,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10080237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10080500	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1015158	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10455370	0.86[CHB][hapmap]
rs10806185	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943694	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10943696	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943697	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10943699	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11962614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12203867	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12208016	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12209988	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12215236	0.83[EUR][1000 genomes]
rs1324120	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs1324121	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1324122	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1324123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1474791	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1535825	0.84[CEU][hapmap]
rs1984242	0.83[CHB][hapmap]
rs2143887	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2179842	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs2298307	0.92[CEU][hapmap]
rs2322630	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2322631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2322633	0.92[CEU][hapmap]
rs2322636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490224	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2490230	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2490232	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2874829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35355485	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35447745	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3793000	0.92[CEU][hapmap]
rs3805876	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3805877	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3805885	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3805907	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs3805920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3812121	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3812126	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4706113	0.89[CEU][hapmap]
rs4706831	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs4706834	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs627240	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs638056	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs67899433	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6907729	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6909546	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6910201	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916405	0.92[CEU][hapmap];0.96[CHB][hapmap]
rs6916507	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6930534	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7450918	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7453746	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7740627	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771449	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7775977	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9294170	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9294171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9294173	0.96[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap]
rs9341810	0.83[EUR][1000 genomes]
rs9341811	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9343970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343971	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343973	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343974	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9343978	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs9350846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9350847	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9352801	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352803	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352806	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs9352809	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9352817	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9359408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9359409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9359411	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361584	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9361587	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs942381	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9443734	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448893	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9448899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9448908	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448909	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs978814	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv524214	chr6:80853873-80892427	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80837000-80895200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:80841200-80895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:80842200-80914200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:80855200-80907000	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:80855200-80907200	Weak transcription	Ovary	ovary
6	chr6:80855400-80895400	Weak transcription	Fetal Stomach	stomach
7	chr6:80855800-80896000	Weak transcription	Aorta	Aorta
8	chr6:80863200-80907200	Weak transcription	Psoas Muscle	Psoas
9	chr6:80871400-80895800	Weak transcription	Right Ventricle	heart
10	chr6:80874000-80894000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:80874200-80899200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:80875200-80893200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:80877600-80895800	Weak transcription	Esophagus	oesophagus
14	chr6:80878000-80921000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:80878600-80916000	Weak transcription	Adipose Nuclei	Adipose
16	chr6:80878800-80907200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:80878800-80914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:80880600-80914200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:80882000-80896200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:80882400-80935400	Weak transcription	Dnd41	blood
21	chr6:80882600-80892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:80883800-80913200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:80885800-80919000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:80886000-80899000	Weak transcription	Liver	Liver
25	chr6:80886800-80892800	Weak transcription	Primary T cells from cord blood	blood
26	chr6:80889600-80893600	Enhancers	HUVEC	blood vessel
27	chr6:80889800-80895400	Weak transcription	Lung	lung
28	chr6:80890400-80892200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:80891000-80892200	Enhancers	HMEC	breast
30	chr6:80891000-80893000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:80891000-80893000	Genic enhancers	HSMM	muscle
32	chr6:80891200-80892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:80891200-80892200	Enhancers	HSMMtube	muscle
34	chr6:80891200-80892200	Enhancers	NHDF-Ad	bronchial
35	chr6:80891200-80892400	Enhancers	A549	lung
36	chr6:80891200-80892600	Enhancers	Hela-S3	cervix
37	chr6:80891200-80892600	Enhancers	NH-A	brain
38	chr6:80891200-80892600	Enhancers	NHEK	skin
39	chr6:80891200-80892600	Enhancers	NHLF	lung
40	chr6:80891200-80892800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:80891200-80893000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:80891400-80892200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:80891400-80892200	Enhancers	Osteobl	bone
44	chr6:80891400-80907200	Weak transcription	Left Ventricle	heart
45	chr6:80891600-80892200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:80891600-80892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:80891600-80895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:80891600-80896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:80891600-80898000	Weak transcription	Pancreas	Pancrea
50	chr6:80891600-80907400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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