Variant report

Variant	rs2161947
Chromosome Location	chr9:21081822-21081823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10481513	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10738580	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10811466	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10811467	0.98[ASN][1000 genomes]
rs10964831	0.91[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs12339214	0.91[ASN][1000 genomes]
rs12344519	0.95[ASN][1000 genomes]
rs1424855	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1539740	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1539741	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1539744	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2383176	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817218	chr9:20687769-21309177	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
2	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
3	nsv1017312	chr9:20892952-21122462	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv466293	chr9:21029330-21199680	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv613752	chr9:21029330-21199680	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv466294	chr9:21037771-21082814	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv613753	chr9:21037771-21082814	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1032466	chr9:21052069-21243756	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv540084	chr9:21052069-21243756	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv892732	chr9:21054806-21089434	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3405218	chr9:21081552-21087250	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21071000-21082000	Weak transcription	Aorta	Aorta
2	chr9:21076200-21082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:21076400-21082800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:21080600-21082600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr9:21080600-21082600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr9:21080800-21082000	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:21080800-21082000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr9:21081200-21082400	Enhancers	Adipose Nuclei	Adipose
9	chr9:21081200-21082400	Enhancers	HUVEC	blood vessel
10	chr9:21081200-21082600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:21081400-21082000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr9:21081400-21082200	Enhancers	Primary B cells from cord blood	blood
13	chr9:21081400-21082200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr9:21081400-21082200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:21081400-21082600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:21081400-21082600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr9:21081400-21082600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr9:21081400-21082800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr9:21081400-21083000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:21081400-21083000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr9:21081400-21083000	Enhancers	Thymus	Thymus
22	chr9:21081400-21083000	Flanking Active TSS	Dnd41	blood
23	chr9:21081400-21083200	Enhancers	Fetal Thymus	thymus
24	chr9:21081600-21082200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr9:21081600-21082400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:21081600-21082600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:21081800-21082200	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr9:21081800-21082400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:21081800-21083000	Enhancers	Fetal Heart	heart

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