Variant report

Variant	rs2130896
Chromosome Location	chr1:94735413-94735414
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11580391	0.86[EUR][1000 genomes]
rs1542728	0.89[EUR][1000 genomes]
rs17111203	0.85[JPT][hapmap]
rs17111236	0.87[ASN][1000 genomes]
rs17396055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929132	0.88[EUR][1000 genomes]
rs55937938	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184400	0.87[EUR][1000 genomes]
rs61782652	0.88[EUR][1000 genomes]
rs61784299	0.91[EUR][1000 genomes]
rs72962392	0.95[ASN][1000 genomes]
rs72964308	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94725800-94742600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:94730800-94743600	Weak transcription	Lung	lung
3	chr1:94731600-94736000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94731600-94740200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:94731800-94735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:94731800-94735800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:94731800-94735800	Weak transcription	HSMM	muscle
8	chr1:94731800-94737200	Weak transcription	Spleen	Spleen
9	chr1:94732000-94735600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:94732000-94735600	Weak transcription	NH-A	brain
11	chr1:94732000-94735800	Weak transcription	NHLF	lung
12	chr1:94732000-94735800	Weak transcription	Osteobl	bone
13	chr1:94732200-94735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:94732200-94735600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:94732200-94736000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:94732200-94736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:94732400-94735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:94732400-94736200	Weak transcription	HSMMtube	muscle
19	chr1:94732600-94735800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94733000-94735600	Weak transcription	NHDF-Ad	bronchial
21	chr1:94734200-94736000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:94734200-94748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:94734600-94737200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94735200-94735800	Enhancers	NHEK	skin
25	chr1:94735200-94736800	Enhancers	HUVEC	blood vessel
26	chr1:94735200-94738400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94735200-94738400	Enhancers	HMEC	breast

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