Variant report

Variant	rs11831631
Chromosome Location	chr12:9177340-9177341
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	chr12:9064573..9067189-chr12:9176082..9178403,2	K562	blood:
2	chr12:9101626..9103314-chr12:9176948..9179841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction
ENSG00000111752	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11831793	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832509	1.00[AMR][1000 genomes]
rs11833184	1.00[LWK][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833893	1.00[AMR][1000 genomes]
rs1805684	1.00[LWK][hapmap];0.91[MKK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805686	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805694	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026223	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026224	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026228	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3026231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35040316	1.00[AMR][1000 genomes]
rs57018529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58097118	1.00[AMR][1000 genomes]
rs58565807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60105910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60289110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240200	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240201	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241907	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244203	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244216	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244223	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244234	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244245	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246318	1.00[AMR][1000 genomes]
rs73246327	1.00[AMR][1000 genomes]
rs73246334	1.00[AMR][1000 genomes]
rs73246337	1.00[AMR][1000 genomes]
rs73246344	1.00[AMR][1000 genomes]
rs73246352	1.00[AMR][1000 genomes]
rs73246383	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv973020	chr12:9163929-9182709	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:9174400-9181800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:9174600-9177400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9175200-9185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:9175800-9177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:9176000-9178200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr12:9176600-9182800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9177000-9177400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:9177000-9177600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:9177000-9178400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9177000-9178600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr12:9177000-9179000	Enhancers	Thymus	Thymus
14	chr12:9177000-9180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:9177200-9177400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:9177200-9177600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr12:9177200-9177600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr12:9177200-9177600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:9177200-9177600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr12:9177200-9177600	Weak transcription	Fetal Thymus	thymus
21	chr12:9177200-9177800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:9177200-9178400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:9177200-9178400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:9177200-9178800	Enhancers	Primary monocytes fromperipheralblood	blood

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