Variant report

Variant	rs12196155
Chromosome Location	chr6:53807842-53807843
allele	A/C
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1543356	0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16884427	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2223617	0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2473599	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2473601	0.95[EUR][1000 genomes]
rs2473603	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2494087	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494089	0.95[EUR][1000 genomes]
rs2494090	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494091	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745460	0.98[EUR][1000 genomes]
rs2820217	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2820218	0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2894816	0.88[EUR][1000 genomes]
rs4272222	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4276504	1.00[CHB][hapmap]
rs6903532	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908101	0.83[AMR][1000 genomes]
rs761135	0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs761136	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763814	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752800	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772783	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382261	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382262	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382264	0.89[EUR][1000 genomes]
rs9464005	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474672	0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][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:28 , 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	chr6:53807800-53808000	Enhancers	Colon Smooth Muscle	Colon
16	chr6:53807800-53808000	Enhancers	Fetal Thymus	thymus
17	chr6:53807800-53808400	Enhancers	Left Ventricle	heart
18	chr6:53807800-53808400	Enhancers	Right Atrium	heart
19	chr6:53807800-53808600	Enhancers	Brain Angular Gyrus	brain
20	chr6:53807800-53808600	Enhancers	Fetal Muscle Trunk	muscle
21	chr6:53807800-53808600	Enhancers	Psoas Muscle	Psoas
22	chr6:53807800-53809000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:53807800-53809200	Enhancers	Aorta	Aorta
24	chr6:53807800-53809200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:53807800-53809400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:53807800-53809400	Enhancers	Fetal Lung	lung
27	chr6:53807800-53809600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:53807800-53810400	Weak transcription	Dnd41	blood

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