Variant report

Variant	rs7513130
Chromosome Location	chr1:94150287-94150288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1011903	0.85[CEU][hapmap]
rs11164963	0.85[CEU][hapmap]
rs12084853	0.85[CEU][hapmap]
rs1567791	0.85[CEU][hapmap]
rs6541387	0.88[CEU][hapmap]
rs6541389	0.88[CEU][hapmap]
rs6656270	0.82[CEU][hapmap]
rs6660740	0.85[CEU][hapmap]
rs6702036	0.85[CEU][hapmap]
rs6704479	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94147800-94153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94148000-94151600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:94148200-94150400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:94148200-94150800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:94148200-94151000	Weak transcription	GM12878-XiMat	blood
6	chr1:94148200-94151800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:94148200-94151800	Weak transcription	A549	lung
8	chr1:94148200-94151800	Weak transcription	HepG2	liver
9	chr1:94148200-94152000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:94148200-94152200	Weak transcription	HUVEC	blood vessel
11	chr1:94148200-94154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:94148200-94154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:94148200-94155200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94148200-94156800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:94148200-94156800	Weak transcription	NHLF	lung
16	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
17	chr1:94148400-94151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:94148400-94152200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:94148400-94152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:94148400-94156200	Weak transcription	HSMM	muscle
21	chr1:94148400-94156600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:94148400-94156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:94148600-94152200	Weak transcription	NHEK	skin
24	chr1:94148800-94151200	Weak transcription	Hela-S3	cervix
25	chr1:94148800-94156400	Weak transcription	HMEC	breast

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