Variant report

Variant	rs3812123
Chromosome Location	chr6:80962957-80962958
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11961345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11961389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs11961506	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11962441	0.93[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs11967081	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968568	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12110563	0.84[ASN][1000 genomes]
rs1324119	0.93[CHB][hapmap];0.81[CHD][hapmap]
rs16891629	0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3749896	0.93[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3793004	0.87[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs3805893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805896	0.93[GIH][hapmap];0.90[TSI][hapmap]
rs3805914	0.93[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805915	0.93[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805918	0.93[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805923	0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812148	0.84[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap]
rs3828750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59460144	0.84[ASN][1000 genomes]
rs60566469	0.80[ASN][1000 genomes]
rs66486409	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6906392	0.80[ASN][1000 genomes]
rs73463518	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73463519	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73463522	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73463531	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73463536	0.83[ASN][1000 genomes]
rs73463560	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73465567	0.80[ASN][1000 genomes]
rs73465590	0.80[ASN][1000 genomes]
rs73467507	0.80[ASN][1000 genomes]
rs73479950	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73479953	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73479968	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73479980	0.84[ASN][1000 genomes]
rs73482011	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73482029	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73482038	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs742834	0.86[CHB][hapmap]
rs806840	1.00[CHB][hapmap]
rs9343974	0.89[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:28 , 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	chr6:80944600-80977200	Weak transcription	Fetal Stomach	stomach
11	chr6:80956600-80971000	Weak transcription	Lung	lung
12	chr6:80956800-80964200	Weak transcription	Brain Angular Gyrus	brain
13	chr6:80957600-80964400	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:80957600-80975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:80957800-80964400	Weak transcription	Brain Substantia Nigra	brain
16	chr6:80958800-80968600	Weak transcription	Fetal Heart	heart
17	chr6:80960400-80968000	Weak transcription	Psoas Muscle	Psoas
18	chr6:80960400-80971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:80960600-80997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:80960800-80964600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:80960800-80970000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:80961200-80964200	Weak transcription	K562	blood
23	chr6:80962000-80964000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:80962000-80966800	Weak transcription	Fetal Lung	lung
25	chr6:80962800-80963000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:80962800-80963000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:80962800-80963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:80962800-80963200	Enhancers	Colon Smooth Muscle	Colon

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