Variant report

Variant	rs7139036
Chromosome Location	chr12:122942443-122942444
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	chr12:122905686..122908132-chr12:122942304..122944180,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11058234	1.00[ASN][1000 genomes]
rs11058491	1.00[ASN][1000 genomes]
rs7958257	1.00[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122934800-122942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122935400-122943800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122938800-122943400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:122938800-122943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
8	chr12:122939000-122947400	Weak transcription	Placenta	Placenta
9	chr12:122939200-122948000	Weak transcription	Hela-S3	cervix
10	chr12:122939600-122943800	Weak transcription	A549	lung
11	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
12	chr12:122941000-122943400	Weak transcription	HepG2	liver
13	chr12:122941200-122947400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:122942000-122942800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:122942000-122942800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:122942000-122943000	Enhancers	GM12878-XiMat	blood
18	chr12:122942200-122942600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:122942200-122942600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122942200-122942600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:122942200-122942800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:122942200-122942800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:122942200-122948000	Weak transcription	Fetal Intestine Large	intestine

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