Variant report

Variant	rs10496971
Chromosome Location	chr2:145769943-145769944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11689317	0.85[AMR][1000 genomes]
rs12616953	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12621647	0.86[AMR][1000 genomes]
rs13001583	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13004410	0.92[AMR][1000 genomes]
rs13009916	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13010262	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13010313	0.86[AMR][1000 genomes]
rs1371047	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16824386	0.86[CHD][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1898732	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1918876	0.85[MEX][hapmap]
rs34948552	0.86[AMR][1000 genomes]
rs34985138	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4662413	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56014517	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56795645	0.80[AMR][1000 genomes]
rs67969609	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145765200-145770200	Weak transcription	Hela-S3	cervix
2	chr2:145765600-145770000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:145765600-145770400	Weak transcription	Aorta	Aorta
4	chr2:145766000-145770000	Weak transcription	HMEC	breast
5	chr2:145766200-145770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:145766200-145770000	Weak transcription	NHDF-Ad	bronchial
7	chr2:145768000-145772000	Enhancers	Fetal Heart	heart
8	chr2:145768400-145771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:145768800-145770200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:145769200-145770200	Enhancers	Psoas Muscle	Psoas
11	chr2:145769200-145770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:145769200-145771200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:145769400-145770000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:145769400-145770600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:145769400-145772000	Weak transcription	Right Atrium	heart
16	chr2:145769600-145770000	Active TSS	A549	lung
17	chr2:145769600-145770200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:145769600-145770600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:145769600-145770800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:145769600-145770800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:145769600-145770800	Enhancers	HSMM	muscle
22	chr2:145769800-145770000	Enhancers	Ovary	ovary
23	chr2:145769800-145770200	Flanking Active TSS	Osteobl	bone
24	chr2:145769800-145770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:145769800-145770400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:145769800-145770600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:145769800-145770600	Enhancers	Fetal Lung	lung
28	chr2:145769800-145770600	Enhancers	HSMMtube	muscle
29	chr2:145769800-145770600	Flanking Active TSS	HUVEC	blood vessel
30	chr2:145769800-145770600	Enhancers	NHEK	skin
31	chr2:145769800-145770800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:145769800-145770800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:145769800-145770800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:145769800-145770800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:145769800-145770800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:145769800-145770800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:145769800-145770800	Enhancers	NH-A	brain
38	chr2:145769800-145771200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:145769800-145771200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:145769800-145771200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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