Variant report

Variant	rs17396055
Chromosome Location	chr1:94730954-94730955
allele	A/G
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	0.85[EUR][1000 genomes]
rs1542728	0.80[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs17111203	0.85[JPT][hapmap]
rs17111236	0.87[ASN][1000 genomes]
rs17400584	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929132	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs2130896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55937938	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184400	0.88[EUR][1000 genomes]
rs61782652	0.89[EUR][1000 genomes]
rs61784299	0.92[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94725800-94742600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:94726000-94731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:94726600-94731000	Weak transcription	HSMMtube	muscle
4	chr1:94728600-94732400	Enhancers	NHDF-Ad	bronchial
5	chr1:94729400-94732200	Enhancers	HUVEC	blood vessel
6	chr1:94729400-94733200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:94729600-94732600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:94729800-94732400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:94729800-94732400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:94730000-94731600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:94730000-94731800	Enhancers	Spleen	Spleen
12	chr1:94730000-94731800	Enhancers	HSMM	muscle
13	chr1:94730000-94732200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:94730000-94732200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:94730200-94731000	Enhancers	Gastric	stomach
16	chr1:94730200-94731600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:94730200-94731800	Enhancers	NHEK	skin
18	chr1:94730200-94732000	Enhancers	NHLF	lung
19	chr1:94730200-94732000	Enhancers	Osteobl	bone
20	chr1:94730200-94732200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:94730200-94732200	Enhancers	HMEC	breast
22	chr1:94730400-94731000	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:94730400-94731200	Flanking Active TSS	Fetal Heart	heart
24	chr1:94730400-94731600	Enhancers	Brain Germinal Matrix	brain
25	chr1:94730400-94732000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:94730400-94732000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:94730400-94732000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:94730400-94732000	Enhancers	NH-A	brain
29	chr1:94730400-94732200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:94730600-94731000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:94730600-94731000	Enhancers	Pancreas	Pancrea
32	chr1:94730600-94731000	Enhancers	Stomach Mucosa	stomach
33	chr1:94730600-94731600	Enhancers	Adipose Nuclei	Adipose
34	chr1:94730600-94732000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:94730600-94732000	Enhancers	Brain Hippocampus Middle	brain
36	chr1:94730600-94732200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:94730600-94732200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:94730600-94733000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:94730800-94731000	Enhancers	Psoas Muscle	Psoas
40	chr1:94730800-94731400	Enhancers	Brain Substantia Nigra	brain
41	chr1:94730800-94731400	Enhancers	A549	lung
42	chr1:94730800-94731800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:94730800-94743600	Weak transcription	Lung	lung

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