Variant report

Variant	rs684251
Chromosome Location	chr6:80967337-80967338
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:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12176343	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12209624	0.95[CHB][hapmap]
rs1359239	0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1408292	0.95[CHB][hapmap];0.91[YRI][hapmap]
rs1535825	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1575541	0.95[CHB][hapmap]
rs1892474	0.84[CEU][hapmap]
rs1892475	0.95[CHB][hapmap]
rs2256531	0.90[CHB][hapmap]
rs2298307	0.95[CHB][hapmap]
rs2322632	0.95[CHB][hapmap]
rs2322633	0.95[CHB][hapmap]
rs2322635	0.95[CHB][hapmap];0.88[YRI][hapmap]
rs2476826	0.95[CHB][hapmap];0.88[YRI][hapmap]
rs2490234	0.95[CHB][hapmap]
rs2490239	0.95[CHB][hapmap]
rs2490241	1.00[CHB][hapmap]
rs2490244	0.95[CHB][hapmap];0.83[YRI][hapmap]
rs2490245	0.90[CHB][hapmap];0.88[YRI][hapmap]
rs2490251	0.95[CHB][hapmap]
rs2505930	0.81[CHB][hapmap]
rs2505932	0.95[CHB][hapmap]
rs2505940	0.95[CHB][hapmap]
rs3805872	1.00[CEU][hapmap];0.80[CHB][hapmap];0.83[EUR][1000 genomes]
rs3805878	0.92[CEU][hapmap];0.80[CHB][hapmap];0.88[EUR][1000 genomes]
rs3805903	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3805911	0.95[CHB][hapmap];0.81[EUR][1000 genomes]
rs3805913	0.95[CHB][hapmap];0.88[YRI][hapmap]
rs3805919	0.95[CHB][hapmap]
rs3828753	0.95[CHB][hapmap]
rs4446525	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4706113	0.95[CHB][hapmap]
rs583426	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs590641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59232999	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs607130	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs613588	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs615585	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs620147	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs623048	0.92[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs643987	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs648831	1.00[YRI][hapmap]
rs660888	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs667097	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs668329	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676311	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs682482	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684283	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688867	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7745301	0.95[CHB][hapmap]
rs7746917	0.95[CHB][hapmap]
rs7747327	0.81[EUR][1000 genomes]
rs7756067	0.88[EUR][1000 genomes]
rs7770189	0.87[EUR][1000 genomes]
rs7771593	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs806783	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs806849	0.82[EUR][1000 genomes]
rs806851	0.87[CEU][hapmap]
rs9294172	0.95[CHB][hapmap];0.90[YRI][hapmap]
rs9343974	0.95[CHB][hapmap]
rs9343977	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs9343980	0.88[EUR][1000 genomes]
rs9352815	0.88[EUR][1000 genomes]
rs942381	0.95[CHB][hapmap]
rs9443742	0.87[EUR][1000 genomes]
rs9448911	0.95[CHB][hapmap];0.88[YRI][hapmap]

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:19 , 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	chr6:80924000-80968400	Weak transcription	Gastric	stomach
4	chr6:80924000-80976000	Weak transcription	HSMM	muscle
5	chr6:80929400-80969200	Weak transcription	Left Ventricle	heart
6	chr6:80939000-80974800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:80944000-80982800	Weak transcription	Pancreas	Pancrea
8	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
9	chr6:80956600-80971000	Weak transcription	Lung	lung
10	chr6:80957600-80975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:80958800-80968600	Weak transcription	Fetal Heart	heart
12	chr6:80960400-80968000	Weak transcription	Psoas Muscle	Psoas
13	chr6:80960400-80971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:80960600-80997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:80960800-80970000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:80963000-80972600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:80964000-80967400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:80964800-80972600	Weak transcription	Fetal Intestine Small	intestine
19	chr6:80964800-81002600	Weak transcription	Liver	Liver

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