Variant report

Variant	rs10198708
Chromosome Location	chr2:142943380-142943381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10175156	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10221807	0.88[ASN][1000 genomes]
rs11687688	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406850	0.89[ASN][1000 genomes]
rs13406969	0.89[ASN][1000 genomes]
rs1523707	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1523708	0.89[ASN][1000 genomes]
rs1628975	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1665163	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16856922	0.86[ASN][1000 genomes]
rs16856956	0.87[ASN][1000 genomes]
rs2177416	0.88[ASN][1000 genomes]
rs58748774	0.85[ASN][1000 genomes]
rs62157301	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66997143	0.88[ASN][1000 genomes]
rs6758692	0.88[ASN][1000 genomes]
rs6758891	0.88[ASN][1000 genomes]
rs72617088	0.87[ASN][1000 genomes]
rs7579516	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587056	0.87[ASN][1000 genomes]
rs7606471	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875255	chr2:142894573-142963976	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875256	chr2:142894573-142994328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875257	chr2:142894573-143041082	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv459685	chr2:142909185-142963976	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583239	chr2:142909185-142963976	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142938800-142943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:142940200-142948200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:142942600-142943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142942600-142944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:142942600-142944600	Enhancers	Dnd41	blood
8	chr2:142942800-142943400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:142942800-142944000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:142942800-142944000	Enhancers	Hela-S3	cervix
11	chr2:142943000-142943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:142943000-142943600	Flanking Active TSS	HUVEC	blood vessel
13	chr2:142943000-142943800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:142943000-142944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:142943000-142944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:142943000-142944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:142943000-142944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:142943000-142944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:142943000-142944000	Enhancers	Adipose Nuclei	Adipose
20	chr2:142943000-142944000	Enhancers	HepG2	liver
21	chr2:142943000-142944000	Enhancers	HMEC	breast
22	chr2:142943000-142944000	Enhancers	NH-A	brain
23	chr2:142943000-142944600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:142943200-142943800	Active TSS	A549	lung
25	chr2:142943200-142943800	Enhancers	NHEK	skin
26	chr2:142943200-142944000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:142943200-142944000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:142943200-142944000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:142943200-142944200	Enhancers	Cortex derived primary cultured neurospheres	brain

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