Variant report

Variant	rs682482
Chromosome Location	chr6:80961139-80961140
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	chr6:80959739..80962315-chr6:80965772..80968765,2	K562	blood:
2	chr6:80951610..80958338-chr6:80959333..80963216,7	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10943698	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209624	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1359239	0.88[ASN][1000 genomes]
rs1408292	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1535825	0.89[ASN][1000 genomes]
rs1575541	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2322635	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2476826	0.82[ASN][1000 genomes]
rs2490244	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490245	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2490250	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490251	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2505944	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805911	0.86[ASN][1000 genomes]
rs3805913	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805919	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3828753	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4256394	0.81[EUR][1000 genomes]
rs583426	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs590641	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs613588	0.82[EUR][1000 genomes]
rs623048	0.81[EUR][1000 genomes]
rs643987	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs648831	0.86[AFR][1000 genomes]
rs667097	0.82[EUR][1000 genomes]
rs668329	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684251	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684283	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686556	0.83[ASN][1000 genomes]
rs688867	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6938280	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs742833	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7741013	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7745301	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7746917	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7770383	0.84[ASN][1000 genomes]
rs806783	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9294172	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9341808	0.87[ASN][1000 genomes]
rs9343974	0.81[ASN][1000 genomes]
rs9343977	0.94[ASN][1000 genomes]
rs9448911	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80914600-80980400	Weak transcription	Ovary	ovary
2	chr6:80921400-80973200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:80922200-80964200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:80924000-80968400	Weak transcription	Gastric	stomach
5	chr6:80924000-80976000	Weak transcription	HSMM	muscle
6	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
7	chr6:80939000-80974800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:80940600-80964200	Weak transcription	Liver	Liver
9	chr6:80944000-80982800	Weak transcription	Pancreas	Pancrea
10	chr6:80944400-80961600	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
12	chr6:80956600-80971000	Weak transcription	Lung	lung
13	chr6:80956800-80964200	Weak transcription	Brain Angular Gyrus	brain
14	chr6:80957600-80964400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:80957600-80975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:80957800-80964400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:80958200-80961200	Enhancers	K562	blood
18	chr6:80958800-80968600	Weak transcription	Fetal Heart	heart
19	chr6:80960200-80961200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80960400-80962000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:80960400-80968000	Weak transcription	Psoas Muscle	Psoas
22	chr6:80960400-80971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:80960600-80961600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:80960600-80997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:80960800-80964600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:80960800-80970000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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