Variant report

Variant	rs1805713
Chromosome Location	chr12:9179301-9179302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9101626..9103314-chr12:9176948..9179841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000003056	Chromatin interaction
ENSG00000139187	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12304948	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1805699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026250	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55770136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60862093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487550	1.00[EUR][1000 genomes]
rs7133355	1.00[EUR][1000 genomes]
rs7957038	1.00[CEU][hapmap]
rs7968986	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv3516057	chr12:9179122-9182670	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3516058	chr12:9179122-9182670	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 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	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:9175200-9185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:9176600-9182800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9177000-9180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:9177600-9180400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:9177600-9180400	Enhancers	Fetal Thymus	thymus
9	chr12:9177600-9181600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:9178200-9179400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:9178400-9180000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9178400-9180200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9178400-9181800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:9178400-9185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:9178600-9180600	Enhancers	Primary T cells from cord blood	blood
17	chr12:9178800-9180000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:9178800-9180400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9178800-9181400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:9178800-9184400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:9179000-9179600	Weak transcription	Thymus	Thymus
22	chr12:9179000-9180000	Enhancers	Primary T helper cells PMA-I stimulated	--

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