Variant report

Variant	rs940190
Chromosome Location	chr3:138838993-138838994
allele	G/T
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	chr3:138837122..138839769-chr3:138843728..138846502,2	K562	blood:

Variant related genes	Relation type
ENSG00000232416	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1105251	0.95[CEU][hapmap]
rs1521557	0.82[CEU][hapmap]
rs2030471	0.95[CEU][hapmap]
rs586043	0.80[CHB][hapmap]
rs647078	0.81[ASN][1000 genomes]
rs647093	0.81[ASN][1000 genomes]
rs649829	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs661149	0.95[CEU][hapmap]
rs663729	0.81[ASN][1000 genomes]
rs939646	0.95[CEU][hapmap]
rs940187	0.95[CEU][hapmap]
rs940188	0.95[CEU][hapmap]
rs940189	0.89[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	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:38 , 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	chr3:138836600-138839000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:138836600-138839200	Weak transcription	HMEC	breast
8	chr3:138836600-138839400	Weak transcription	Colonic Mucosa	Colon
9	chr3:138836600-138843400	Enhancers	HSMM	muscle
10	chr3:138836600-138846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:138837000-138839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:138837400-138839400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:138837600-138841800	Enhancers	Pancreas	Pancrea
14	chr3:138838200-138839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:138838200-138839600	Weak transcription	Lung	lung
16	chr3:138838200-138843000	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:138838400-138840400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:138838600-138839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:138838600-138839800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:138838600-138839800	Enhancers	K562	blood
21	chr3:138838600-138840400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:138838600-138840800	Enhancers	Hela-S3	cervix
23	chr3:138838600-138841000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr3:138838600-138841200	Enhancers	Fetal Intestine Large	intestine
25	chr3:138838600-138841800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:138838600-138842200	Enhancers	HSMMtube	muscle
27	chr3:138838600-138842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:138838600-138842600	Enhancers	NHDF-Ad	bronchial
29	chr3:138838600-138842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:138838800-138839200	Enhancers	Fetal Kidney	kidney
31	chr3:138838800-138839600	Enhancers	NH-A	brain
32	chr3:138838800-138839800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:138838800-138839800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:138838800-138839800	Weak transcription	Ovary	ovary
35	chr3:138838800-138840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:138838800-138840400	Enhancers	Fetal Intestine Small	intestine
37	chr3:138838800-138841600	Enhancers	Osteobl	bone
38	chr3:138838800-138841800	Enhancers	NHLF	lung

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