Variant report

Variant	rs10820943
Chromosome Location	chr9:94916478-94916479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94909350..94911414-chr9:94915017..94917948,2	K562	blood:

Variant related genes	Relation type
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10992250	0.81[CEU][hapmap]
rs1970119	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs2398673	0.81[CHB][hapmap]
rs55715457	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68017831	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044352	0.81[CHB][hapmap]
rs7044976	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972779	chr9:94910607-94920083	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94910200-94923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94911200-94925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:94912400-94917600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:94913400-94916800	Enhancers	NH-A	brain
5	chr9:94913400-94917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:94913600-94917800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:94913800-94916600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94913800-94916600	Enhancers	Placenta	Placenta
9	chr9:94914000-94916800	Enhancers	Colon Smooth Muscle	Colon
10	chr9:94914200-94916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:94914600-94916800	Enhancers	Osteobl	bone
12	chr9:94915000-94916800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:94915000-94918000	Weak transcription	Fetal Brain Male	brain
14	chr9:94915600-94916800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:94915600-94916800	Enhancers	HSMM	muscle
16	chr9:94915800-94916600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:94915800-94916600	Enhancers	Stomach Smooth Muscle	stomach
18	chr9:94915800-94917000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr9:94916000-94916600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:94916000-94916600	Enhancers	NHDF-Ad	bronchial
21	chr9:94916000-94916600	Enhancers	NHLF	lung
22	chr9:94916000-94916800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:94916000-94917000	Enhancers	Rectal Smooth Muscle	rectum
24	chr9:94916200-94916800	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:94916200-94917000	Enhancers	Lung	lung
26	chr9:94916200-94917200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:94916400-94916600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:94916400-94916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:94916400-94916600	Enhancers	Fetal Intestine Large	intestine
30	chr9:94916400-94916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:94916400-94931800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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