Variant report

Variant	rs11788303
Chromosome Location	chr9:117452238-117452239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11788301	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11789254	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11789913	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11790078	1.00[ASN][1000 genomes]
rs11791529	1.00[ASN][1000 genomes]
rs11793039	1.00[ASN][1000 genomes]
rs11793719	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11793753	1.00[ASN][1000 genomes]
rs11794322	1.00[ASN][1000 genomes]
rs16930795	0.84[AFR][1000 genomes]
rs16930910	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16930928	1.00[ASN][1000 genomes]
rs2031877	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28420964	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56357980	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1042718	chr9:117435306-117488969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	3 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	chr9:117441800-117452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:117443200-117452600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:117444600-117452400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:117444600-117452800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:117444800-117452600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:117445200-117452600	Weak transcription	NHEK	skin
7	chr9:117448400-117452800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:117448800-117452800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:117449400-117452400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:117449800-117452600	Weak transcription	A549	lung
11	chr9:117449800-117452600	Weak transcription	HUVEC	blood vessel
12	chr9:117449800-117452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:117450000-117452600	Weak transcription	NHLF	lung
14	chr9:117450200-117452600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:117450400-117452600	Weak transcription	NHDF-Ad	bronchial
16	chr9:117451000-117452600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:117451000-117453600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:117451600-117453600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr9:117451600-117453600	Enhancers	HSMMtube	muscle
20	chr9:117451800-117454600	Enhancers	HSMM	muscle
21	chr9:117452000-117452600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:117452000-117452600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr9:117452200-117452400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr9:117452200-117452400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr9:117452200-117452400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr9:117452200-117452400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:117452200-117452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:117452200-117453600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:117452200-117453600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr9:117452200-117453600	Enhancers	HMEC	breast
31	chr9:117452200-117454200	Enhancers	Hela-S3	cervix

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