Variant report

Variant	rs940191
Chromosome Location	chr3:138838664-138838665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138822749..138824548-chr3:138838038..138840043,2	K562	blood:
2	chr3:138836042..138841722-chr3:138842580..138845228,5	K562	blood:
3	chr3:138837098..138838930-chr3:138840142..138842562,2	K562	blood:
4	chr3:138837122..138839769-chr3:138843728..138846502,2	K562	blood:

Variant related genes	Relation type
ENSG00000232416	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1105251	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2030471	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap]
rs646315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs661149	0.89[JPT][hapmap]
rs6790703	0.81[ASN][1000 genomes]
rs939646	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs940187	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap]
rs940188	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap]
rs940189	1.00[CHD][hapmap];0.86[GIH][hapmap];0.81[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	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138835600-138839000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:138835800-138843200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:138836200-138843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:138836400-138841600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr3:138836600-138838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:138836600-138838800	Weak transcription	NH-A	brain
8	chr3:138836600-138839000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:138836600-138839200	Weak transcription	HMEC	breast
10	chr3:138836600-138839400	Weak transcription	Colonic Mucosa	Colon
11	chr3:138836600-138843400	Enhancers	HSMM	muscle
12	chr3:138836600-138846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:138837000-138838800	Weak transcription	Osteobl	bone
14	chr3:138837000-138839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:138837400-138839400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:138837600-138838800	Enhancers	Ovary	ovary
17	chr3:138837600-138841800	Enhancers	Pancreas	Pancrea
18	chr3:138838200-138839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:138838200-138839600	Weak transcription	Lung	lung
20	chr3:138838200-138843000	Enhancers	Primary hematopoietic stem cells	blood
21	chr3:138838400-138840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:138838600-138839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:138838600-138839800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:138838600-138839800	Enhancers	K562	blood
25	chr3:138838600-138840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:138838600-138840800	Enhancers	Hela-S3	cervix
27	chr3:138838600-138841000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:138838600-138841200	Enhancers	Fetal Intestine Large	intestine
29	chr3:138838600-138841800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:138838600-138842200	Enhancers	HSMMtube	muscle
31	chr3:138838600-138842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:138838600-138842600	Enhancers	NHDF-Ad	bronchial
33	chr3:138838600-138842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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