Variant report

Variant	rs12562931
Chromosome Location	chr1:86072515-86072516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86045532..86047930-chr1:86071624..86075132,3	MCF-7	breast:
2	chr1:86050411..86052188-chr1:86071339..86074227,2	MCF-7	breast:
3	chr1:86044508..86046493-chr1:86071384..86074227,2	K562	blood:
4	chr1:86044046..86050058-chr1:86065602..86074449,16	MCF-7	breast:
5	chr1:86044508..86046201-chr1:86070309..86072884,2	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3767161	1.00[AMR][1000 genomes]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:86066600-86077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:86068000-86074600	Enhancers	Fetal Intestine Small	intestine
5	chr1:86068400-86074800	Enhancers	Fetal Intestine Large	intestine
6	chr1:86069000-86072600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:86070000-86076800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:86070600-86076600	Weak transcription	Fetal Stomach	stomach
9	chr1:86070800-86072600	Enhancers	HepG2	liver
10	chr1:86071200-86076600	Weak transcription	Fetal Lung	lung
11	chr1:86071200-86076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:86071400-86072600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:86071400-86072600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:86071400-86072600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:86071400-86072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:86071400-86073200	Enhancers	Pancreas	Pancrea
17	chr1:86071400-86074200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:86071400-86074200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:86071400-86075000	Enhancers	HSMM	muscle
20	chr1:86071400-86075400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:86071600-86072600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:86071600-86073400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:86071600-86074400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:86071600-86074600	Enhancers	HUVEC	blood vessel
25	chr1:86071600-86076600	Enhancers	NHDF-Ad	bronchial
26	chr1:86071600-86078800	Enhancers	NHLF	lung
27	chr1:86071800-86073400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:86071800-86073400	Enhancers	Osteobl	bone
29	chr1:86071800-86074200	Enhancers	NHEK	skin
30	chr1:86071800-86074400	Enhancers	HMEC	breast
31	chr1:86071800-86074400	Enhancers	NH-A	brain
32	chr1:86071800-86074600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:86071800-86074600	Enhancers	HSMMtube	muscle
34	chr1:86071800-86076800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:86072000-86072800	Weak transcription	Fetal Kidney	kidney
36	chr1:86072000-86072800	Weak transcription	Small Intestine	intestine
37	chr1:86072000-86073200	Enhancers	A549	lung
38	chr1:86072000-86073800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:86072000-86074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:86072000-86074200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:86072000-86074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:86072000-86074200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:86072000-86074200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:86072000-86074400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:86072000-86074400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:86072000-86074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:86072200-86073000	Enhancers	Hela-S3	cervix
48	chr1:86072200-86073200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:86072200-86073600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:86072200-86074200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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