Variant report

Variant	rs2030471
Chromosome Location	chr3:138841248-138841249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138839775..138842671-chr3:138939843..138942396,2	K562	blood:
2	chr3:138836042..138841722-chr3:138842580..138845228,5	K562	blood:
3	chr3:138837098..138838930-chr3:138840142..138842562,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1105251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1521557	0.82[CEU][hapmap]
rs2737735	0.82[EUR][1000 genomes]
rs595352	0.83[EUR][1000 genomes]
rs646315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs661149	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs673174	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6790703	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs685220	0.80[EUR][1000 genomes]
rs688964	0.83[EUR][1000 genomes]
rs939646	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940189	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs940190	0.95[CEU][hapmap]
rs940191	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138835800-138843200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:138836200-138843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:138836400-138841600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:138836600-138843400	Enhancers	HSMM	muscle
5	chr3:138836600-138846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:138837600-138841800	Enhancers	Pancreas	Pancrea
7	chr3:138838200-138843000	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:138838600-138841800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:138838600-138842200	Enhancers	HSMMtube	muscle
10	chr3:138838600-138842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:138838600-138842600	Enhancers	NHDF-Ad	bronchial
12	chr3:138838600-138842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:138838800-138841600	Enhancers	Osteobl	bone
14	chr3:138838800-138841800	Enhancers	NHLF	lung
15	chr3:138839000-138841400	Enhancers	A549	lung
16	chr3:138839000-138842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:138839200-138841600	Enhancers	Liver	Liver
18	chr3:138839400-138849200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:138839800-138841800	Enhancers	Ovary	ovary
20	chr3:138839800-138842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:138839800-138843000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:138839800-138843000	Weak transcription	Spleen	Spleen
23	chr3:138839800-138843400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr3:138839800-138843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:138839800-138847200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:138840200-138842600	Enhancers	Adipose Nuclei	Adipose
27	chr3:138840400-138841600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:138840400-138841600	Weak transcription	Right Atrium	heart
29	chr3:138840800-138841400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:138840800-138842200	Enhancers	K562	blood
31	chr3:138841200-138842000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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