Variant report

Variant	rs17223194
Chromosome Location	chr12:76083426-76083427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76077618..76079261-chr12:76083300..76084983,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11180624	0.88[ASN][1000 genomes]
rs11180625	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180639	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11180640	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11180644	0.90[CEU][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs12315800	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319659	0.82[CHB][hapmap];0.98[ASN][1000 genomes]
rs12812846	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs12822896	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12826237	0.98[ASN][1000 genomes]
rs17115480	0.95[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs17223072	0.98[ASN][1000 genomes]
rs17223651	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2367073	0.98[ASN][1000 genomes]
rs2367074	0.98[ASN][1000 genomes]
rs34724924	0.93[ASN][1000 genomes]
rs35094428	0.88[ASN][1000 genomes]
rs35813830	0.98[ASN][1000 genomes]
rs35881531	0.86[ASN][1000 genomes]
rs67943440	0.90[ASN][1000 genomes]
rs7132221	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs71460142	0.98[ASN][1000 genomes]
rs71460144	0.98[ASN][1000 genomes]
rs7295259	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7295484	0.98[ASN][1000 genomes]
rs7295806	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7309843	0.94[CEU][hapmap];0.85[CHB][hapmap]
rs73124349	0.98[ASN][1000 genomes]
rs7313785	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7967547	0.93[ASN][1000 genomes]
rs7969436	0.95[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7978873	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
3	chr12:76079200-76083800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:76079200-76084200	Weak transcription	K562	blood
5	chr12:76079400-76083800	Weak transcription	HSMM	muscle
6	chr12:76079400-76084000	Weak transcription	Fetal Stomach	stomach
7	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
8	chr12:76079600-76083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:76079600-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:76079800-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:76079800-76083800	Weak transcription	NH-A	brain
12	chr12:76079800-76083800	Weak transcription	Osteobl	bone
13	chr12:76080000-76083600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:76080000-76083600	Weak transcription	NHEK	skin
15	chr12:76080000-76084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:76081200-76083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:76081800-76083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:76083000-76084400	Enhancers	NHDF-Ad	bronchial
19	chr12:76083200-76084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:76083200-76084400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:76083200-76084400	Enhancers	NHLF	lung
22	chr12:76083200-76084600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:76083200-76085000	Enhancers	HMEC	breast

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