Variant report

Variant	rs1619066
Chromosome Location	chr7:129209537-129209538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129205495..129207558-chr7:129208348..129210608,2	K562	blood:
2	chr7:129200551..129202256-chr7:129208397..129211365,2	MCF-7	breast:
3	chr7:129208350..129211242-chr7:129248110..129249888,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215964	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10226046	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245497	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10275592	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10808238	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808240	0.89[CEU][hapmap]
rs10954244	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10954246	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1450878	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1562833	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1975644	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402958	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402966	0.91[CEU][hapmap]
rs2896418	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2896419	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4292630	0.91[CEU][hapmap]
rs4520104	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4728171	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731600	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731608	0.91[CEU][hapmap]
rs4731612	0.90[CEU][hapmap]
rs602616	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467252	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467253	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467255	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467257	0.91[CEU][hapmap]
rs676366	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690686	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs692489	1.00[CHB][hapmap]
rs6954452	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961102	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966688	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967348	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7778085	0.91[CEU][hapmap]
rs7788769	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7797035	0.85[EUR][1000 genomes]
rs7802041	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7805465	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs896156	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9690361	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9691578	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9792084	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr7:129198600-129216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:129208600-129211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:129209000-129210200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:129209200-129210400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:129209200-129210400	Enhancers	NHEK	skin
6	chr7:129209200-129210400	Enhancers	Osteobl	bone
7	chr7:129209200-129210600	Enhancers	NHDF-Ad	bronchial
8	chr7:129209400-129209600	Flanking Active TSS	NH-A	brain
9	chr7:129209400-129209800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:129209400-129209800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:129209400-129209800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:129209400-129209800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:129209400-129209800	Enhancers	Stomach Mucosa	stomach
14	chr7:129209400-129209800	Flanking Active TSS	Hela-S3	cervix
15	chr7:129209400-129209800	Flanking Active TSS	HepG2	liver
16	chr7:129209400-129209800	Enhancers	HSMM	muscle
17	chr7:129209400-129209800	Enhancers	HSMMtube	muscle
18	chr7:129209400-129209800	Bivalent Enhancer	K562	blood
19	chr7:129209400-129210000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:129209400-129210200	Enhancers	Placenta	Placenta
21	chr7:129209400-129210200	Active TSS	A549	lung
22	chr7:129209400-129210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:129209400-129210400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:129209400-129210400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:129209400-129210400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:129209400-129210400	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:129209400-129210400	Enhancers	HMEC	breast
28	chr7:129209400-129210400	Enhancers	NHLF	lung

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