Variant report

Variant	rs2076497
Chromosome Location	chr6:53808162-53808163
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53805147..53806830-chr6:53806869..53810156,3	MCF-7	breast:
2	chr6:53802203..53805380-chr6:53806061..53808380,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10456674	0.91[YRI][hapmap]
rs10948787	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11751301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12204130	0.83[YRI][hapmap]
rs12663216	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs13437448	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2076496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3003492	0.87[CEU][hapmap];0.93[CHB][hapmap]
rs3003498	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs3813850	0.82[CHB][hapmap]
rs4486000	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs4712050	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4712051	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5006063	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61068246	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62396285	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6905563	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs6906326	0.83[CHB][hapmap]
rs6927232	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs763813	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs763815	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7750173	0.83[EUR][1000 genomes]
rs9296727	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9474643	0.82[CHB][hapmap]
rs9474687	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:53794800-53815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:53795600-53826200	Weak transcription	NHEK	skin
4	chr6:53799800-53810600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:53807200-53809800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:53807400-53808600	Enhancers	Fetal Stomach	stomach
7	chr6:53807400-53809400	Enhancers	Brain Anterior Caudate	brain
8	chr6:53807400-53809400	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:53807400-53810400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:53807600-53808600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:53807600-53808600	Enhancers	Fetal Brain Male	brain
12	chr6:53807600-53808600	Enhancers	Ovary	ovary
13	chr6:53807600-53809400	Enhancers	Brain Substantia Nigra	brain
14	chr6:53807600-53809600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:53807800-53808400	Enhancers	Left Ventricle	heart
16	chr6:53807800-53808400	Enhancers	Right Atrium	heart
17	chr6:53807800-53808600	Enhancers	Brain Angular Gyrus	brain
18	chr6:53807800-53808600	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:53807800-53808600	Enhancers	Psoas Muscle	Psoas
20	chr6:53807800-53809000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:53807800-53809200	Enhancers	Aorta	Aorta
22	chr6:53807800-53809200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:53807800-53809400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:53807800-53809400	Enhancers	Fetal Lung	lung
25	chr6:53807800-53809600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:53807800-53810400	Weak transcription	Dnd41	blood
27	chr6:53808000-53808600	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:53808000-53808600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:53808000-53809200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:53808000-53810200	Weak transcription	Fetal Thymus	thymus
31	chr6:53808000-53810400	Enhancers	Fetal Muscle Leg	muscle

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