Variant report

Variant	rs7976248
Chromosome Location	chr12:10336197-10336198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10335844..10336344-chr19:9434455..9435004,2	MCF-7	breast:
2	chr12:10334882..10336740-chr12:10339192..10340693,2	K562	blood:

Variant related genes	Relation type
ENSG00000270011	Chromatin interaction
ENSG00000188321	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4763454	0.80[YRI][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10331800-10336600	Weak transcription	Fetal Stomach	stomach
3	chr12:10332800-10337000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:10333200-10336600	Weak transcription	Placenta	Placenta
5	chr12:10333400-10337200	Enhancers	Hela-S3	cervix
6	chr12:10334000-10337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:10334600-10336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:10334600-10336800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:10334600-10336800	Enhancers	NHLF	lung
10	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:10334800-10336200	Enhancers	Osteobl	bone
12	chr12:10334800-10337200	Enhancers	NHDF-Ad	bronchial
13	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:10335000-10336800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:10335200-10337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:10335600-10336400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:10335600-10337000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:10335800-10336800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:10335800-10336800	Weak transcription	Fetal Lung	lung
20	chr12:10335800-10337200	Weak transcription	A549	lung
21	chr12:10336000-10336600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:10336000-10337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:10336000-10342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10336000-10343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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