Variant report

Variant	rs2001917
Chromosome Location	chr9:94685926-94685927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94676427..94678807-chr9:94685179..94687567,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10115684	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10116326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820938	0.87[CEU][hapmap]
rs1406202	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866702	0.87[ASN][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	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94670600-94686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:94678200-94686600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:94678800-94686200	Weak transcription	Ovary	ovary
4	chr9:94681400-94691400	Weak transcription	Pancreas	Pancrea
5	chr9:94683000-94687200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:94683400-94686200	Weak transcription	Gastric	stomach
7	chr9:94683600-94686000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:94683600-94691800	Weak transcription	Fetal Lung	lung
9	chr9:94683600-94692000	Weak transcription	K562	blood
10	chr9:94684000-94686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94684200-94686600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:94684400-94686400	Enhancers	Colon Smooth Muscle	Colon
13	chr9:94684600-94686000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:94684600-94686000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:94684600-94686000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:94685200-94686000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr9:94685200-94686800	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:94685400-94686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:94685400-94686400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:94685400-94690400	Weak transcription	Fetal Intestine Small	intestine
21	chr9:94685600-94686800	Genic enhancers	Fetal Stomach	stomach
22	chr9:94685800-94686000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:94685800-94686600	Enhancers	HUES6 Cell Line	embryonic stem cell

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