Variant report

Variant	rs754385
Chromosome Location	chr7:129214387-129214388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10954251	0.88[JPT][hapmap]
rs11769146	1.00[JPT][hapmap]
rs11773023	1.00[JPT][hapmap]
rs13225629	0.86[JPT][hapmap]
rs13236221	0.86[JPT][hapmap]
rs13239011	0.88[JPT][hapmap]
rs1624261	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17556221	1.00[JPT][hapmap]
rs17556430	1.00[JPT][hapmap]
rs1823102	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1962038	0.88[JPT][hapmap]
rs2293629	1.00[JPT][hapmap]
rs2402967	0.88[JPT][hapmap]
rs3736626	1.00[JPT][hapmap]
rs690748	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692489	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6953987	1.00[JPT][hapmap]
rs9649538	0.88[JPT][hapmap]

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	chr7:129211400-129214400	Weak transcription	A549	lung
3	chr7:129213800-129215000	Enhancers	Fetal Muscle Trunk	muscle
4	chr7:129213800-129215000	Enhancers	Fetal Muscle Leg	muscle
5	chr7:129214000-129214400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:129214200-129214400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:129214200-129214400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:129214200-129214600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:129214200-129214600	Enhancers	Stomach Mucosa	stomach
10	chr7:129214200-129214600	Enhancers	HSMM	muscle
11	chr7:129214200-129214600	Enhancers	HSMMtube	muscle
12	chr7:129214200-129214800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:129214200-129214800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:129214200-129214800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:129214200-129214800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:129214200-129214800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:129214200-129214800	Enhancers	Adipose Nuclei	Adipose
18	chr7:129214200-129214800	Enhancers	Left Ventricle	heart
19	chr7:129214200-129214800	Enhancers	Psoas Muscle	Psoas
20	chr7:129214200-129214800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:129214200-129214800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:129214200-129214800	Enhancers	NH-A	brain
23	chr7:129214200-129214800	Enhancers	NHEK	skin
24	chr7:129214200-129215000	Enhancers	HUVEC	blood vessel
25	chr7:129214200-129215000	Enhancers	NHDF-Ad	bronchial
26	chr7:129214200-129215000	Enhancers	Osteobl	bone
27	chr7:129214200-129215200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:129214200-129215200	Enhancers	NHLF	lung

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