Variant report

Variant	rs647093
Chromosome Location	chr3:138836290-138836291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138836042..138841722-chr3:138842580..138845228,5	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1081429	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1092455	0.96[ASN][1000 genomes]
rs10935298	0.96[ASN][1000 genomes]
rs1533134	0.88[ASN][1000 genomes]
rs2202665	0.81[ASN][1000 genomes]
rs581530	0.87[ASN][1000 genomes]
rs584059	0.89[ASN][1000 genomes]
rs586043	0.89[ASN][1000 genomes]
rs599415	0.89[ASN][1000 genomes]
rs61151687	0.86[ASN][1000 genomes]
rs647078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649829	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676102	0.89[ASN][1000 genomes]
rs72630200	0.87[ASN][1000 genomes]
rs72630201	0.84[ASN][1000 genomes]
rs770978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs770979	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs770980	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs940190	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:21 , 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	chr3:138831200-138837600	Weak transcription	Ovary	ovary
3	chr3:138831200-138838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:138833200-138838600	Weak transcription	K562	blood
5	chr3:138835400-138836600	Enhancers	NHDF-Ad	bronchial
6	chr3:138835400-138837000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:138835600-138836400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:138835600-138836600	Enhancers	HMEC	breast
9	chr3:138835600-138837000	Enhancers	Osteobl	bone
10	chr3:138835600-138837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:138835600-138839000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:138835800-138836600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:138835800-138843200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:138836000-138836400	Weak transcription	Colonic Mucosa	Colon
15	chr3:138836000-138836600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:138836000-138836600	Genic enhancers	HSMM	muscle
17	chr3:138836000-138836600	Enhancers	NH-A	brain
18	chr3:138836200-138836400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:138836200-138836600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:138836200-138837200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:138836200-138843400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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