Variant report

Variant	rs754386
Chromosome Location	chr7:129214174-129214175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129210983..129214247-chr7:129215750..129217640,3	K562	blood:
2	chr7:129212889..129217763-chr7:129247804..129250930,5	K562	blood:
3	chr7:129212812..129216194-chr7:129221295..129224141,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10225103	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs10227655	0.89[ASN][1000 genomes]
rs10235960	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267039	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs10268267	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs10271270	0.89[ASN][1000 genomes]
rs10275661	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs10276336	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10277673	0.85[JPT][hapmap]
rs10278897	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs11763880	0.85[JPT][hapmap]
rs11773536	1.00[JPT][hapmap]
rs12538553	0.88[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs12666356	1.00[JPT][hapmap]
rs12669389	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs17161218	0.85[JPT][hapmap]
rs2007352	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402962	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2402970	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs36087637	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4469397	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs6962005	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6964297	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6978860	0.85[JPT][hapmap]
rs73721766	0.89[ASN][1000 genomes]
rs73721770	0.89[ASN][1000 genomes]
rs7787121	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7790595	0.89[ASN][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:21 , 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	chr7:129209800-129214200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:129209800-129214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:129209800-129214200	Weak transcription	Stomach Mucosa	stomach
5	chr7:129209800-129214200	Weak transcription	HSMM	muscle
6	chr7:129209800-129214200	Weak transcription	HSMMtube	muscle
7	chr7:129210400-129214200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:129210400-129214200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:129210400-129214200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:129210400-129214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:129210400-129214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:129210400-129214200	Weak transcription	NHEK	skin
13	chr7:129210400-129214200	Weak transcription	NHLF	lung
14	chr7:129210400-129214200	Weak transcription	Osteobl	bone
15	chr7:129210600-129214200	Weak transcription	NHDF-Ad	bronchial
16	chr7:129211400-129214400	Weak transcription	A549	lung
17	chr7:129212400-129214200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:129213800-129215000	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:129213800-129215000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:129214000-129214200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:129214000-129214400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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