Variant report

Variant	rs16917957
Chromosome Location	chr12:9178696-9178697
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
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313493	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314142	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917943	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805696	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28769384	1.00[ASN][1000 genomes]
rs3026237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026240	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882973	1.00[ASN][1000 genomes]
rs4882974	1.00[ASN][1000 genomes]
rs4883205	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4883207	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883210	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310680	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7312460	1.00[ASN][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:23 , 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	chr12:9177000-9179000	Enhancers	Thymus	Thymus
7	chr12:9177000-9180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:9177200-9178800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:9177600-9180400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:9177600-9180400	Enhancers	Fetal Thymus	thymus
11	chr12:9177600-9181600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:9178200-9178800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:9178200-9179000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr12:9178200-9179400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9178400-9178800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:9178400-9180000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:9178400-9180200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9178400-9181800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:9178400-9185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:9178600-9178800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr12:9178600-9178800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr12:9178600-9180600	Enhancers	Primary T cells from cord blood	blood

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