Variant report

Variant	rs2996292
Chromosome Location	chr1:95025004-95025005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1041041	0.82[ASN][1000 genomes]
rs1041042	0.82[ASN][1000 genomes]
rs11165158	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1146473	0.82[ASN][1000 genomes]
rs1146474	0.82[ASN][1000 genomes]
rs1146476	0.85[ASN][1000 genomes]
rs1146477	0.85[ASN][1000 genomes]
rs1146480	0.85[ASN][1000 genomes]
rs1146481	0.85[ASN][1000 genomes]
rs1146482	0.85[ASN][1000 genomes]
rs1146484	0.85[ASN][1000 genomes]
rs1146485	0.84[ASN][1000 genomes]
rs1146487	0.86[ASN][1000 genomes]
rs1146501	0.80[EUR][1000 genomes]
rs1245215	0.86[ASN][1000 genomes]
rs1303132	0.86[ASN][1000 genomes]
rs1303134	0.85[ASN][1000 genomes]
rs1303135	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1303138	0.85[ASN][1000 genomes]
rs1324217	0.81[ASN][1000 genomes]
rs1578535	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1778205	0.82[ASN][1000 genomes]
rs1778206	0.81[ASN][1000 genomes]
rs1778207	0.81[ASN][1000 genomes]
rs1778208	0.80[ASN][1000 genomes]
rs1778223	0.86[ASN][1000 genomes]
rs2762509	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2794475	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794476	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2794479	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2971946	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2971947	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985287	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68169338	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:95011600-95025400	Weak transcription	NHLF	lung
2	chr1:95019000-95028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:95019000-95028200	Weak transcription	Pancreas	Pancrea
4	chr1:95019200-95025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:95019200-95025400	Weak transcription	Stomach Mucosa	stomach
6	chr1:95020000-95025200	Weak transcription	Ovary	ovary
7	chr1:95020000-95025400	Weak transcription	Fetal Intestine Large	intestine
8	chr1:95020400-95028200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:95020600-95025400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:95020600-95025600	Weak transcription	HSMM	muscle
11	chr1:95020600-95028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:95020800-95025200	Weak transcription	HSMMtube	muscle
13	chr1:95020800-95025400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:95021000-95025400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:95021000-95025600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:95021200-95025200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:95021200-95025400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:95021200-95025400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:95021200-95025400	Weak transcription	NHEK	skin
20	chr1:95021400-95027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:95021800-95025400	Weak transcription	Esophagus	oesophagus
22	chr1:95021800-95025400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:95022000-95025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:95022000-95025400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:95022200-95025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:95022200-95025200	Weak transcription	HMEC	breast
27	chr1:95022400-95025400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:95022800-95025200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:95023600-95025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:95023800-95025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:95023800-95025600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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