Variant report

Variant	rs17014330
Chromosome Location	chr1:209516399-209516400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12145008	0.81[AFR][1000 genomes]
rs1354848	0.90[AFR][1000 genomes]
rs41274824	0.85[AFR][1000 genomes]
rs58445036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668608	0.81[AFR][1000 genomes]
rs6678908	0.85[AFR][1000 genomes];1.00[AMR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:209513000-209516800	Enhancers	Fetal Lung	lung
3	chr1:209513000-209517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:209513000-209518600	Enhancers	Fetal Brain Male	brain
5	chr1:209513600-209517600	Enhancers	Fetal Brain Female	brain
6	chr1:209514200-209516400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:209514400-209517200	Enhancers	Fetal Muscle Leg	muscle
8	chr1:209514600-209516800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:209514800-209516400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:209515400-209517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:209515600-209516400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:209515600-209516600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:209515800-209516400	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr1:209515800-209517800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:209515800-209522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:209515800-209524200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:209516000-209516400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:209516000-209516400	Flanking Active TSS	Osteobl	bone
19	chr1:209516000-209516600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:209516000-209516600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:209516000-209516600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:209516200-209516600	Flanking Active TSS	NHEK	skin
23	chr1:209516200-209516800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:209516200-209516800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:209516200-209516800	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:209516200-209517000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:209516200-209517000	Active TSS	NHLF	lung
28	chr1:209516200-209517200	Weak transcription	Fetal Stomach	stomach

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