Variant report

Variant	rs975950
Chromosome Location	chr2:20331128-20331129
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20328337..20331162-chr2:20332733..20334257,2	K562	blood:
2	chr2:20329032..20331915-chr2:20335666..20338081,2	K562	blood:
3	chr2:20329242..20332304-chr2:20334345..20337488,3	MCF-7	breast:
4	chr2:20320341..20322786-chr2:20329123..20332598,3	MCF-7	breast:
5	chr2:20329860..20331531-chr2:20418864..20420895,2	MCF-7	breast:
6	chr2:20329969..20331497-chr2:20335447..20338002,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11678155	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4666366	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666368	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6531209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563386	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20326400-20334800	Weak transcription	Esophagus	oesophagus
2	chr2:20326400-20336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20327600-20332000	Enhancers	Fetal Intestine Small	intestine
4	chr2:20328000-20332200	Enhancers	Fetal Intestine Large	intestine
5	chr2:20328200-20331600	Enhancers	Colonic Mucosa	Colon
6	chr2:20328600-20331800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:20329000-20331200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:20329200-20331200	Enhancers	Placenta	Placenta
9	chr2:20329800-20331200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:20329800-20331200	Enhancers	Small Intestine	intestine
11	chr2:20329800-20333600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:20330200-20331200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:20330400-20331200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:20330400-20331600	Enhancers	HMEC	breast
15	chr2:20330400-20331800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:20330400-20332800	Weak transcription	Fetal Kidney	kidney
17	chr2:20330600-20331200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:20330600-20331200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:20330600-20331800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:20330600-20331800	Enhancers	NH-A	brain
21	chr2:20330800-20331200	Enhancers	HSMMtube	muscle
22	chr2:20330800-20331600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:20330800-20331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:20330800-20331600	Enhancers	HSMM	muscle
25	chr2:20330800-20331800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:20330800-20331800	Enhancers	Osteobl	bone
27	chr2:20331000-20334000	Weak transcription	Stomach Mucosa	stomach
28	chr2:20331000-20335000	Weak transcription	Liver	Liver
29	chr2:20331000-20335600	Weak transcription	NHEK	skin

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