Variant report

Variant	rs61916006
Chromosome Location	chr12:9185610-9185611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr12:9185333-9185620	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9100702..9103487-chr12:9184337..9186342,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPA1P34	TF binding region
ENSG00000255776	TF binding region
ENSG00000003056	Chromatin interaction
ENSG00000139187	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11048494	0.80[EUR][1000 genomes]
rs11048496	0.80[EUR][1000 genomes]
rs12303154	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322917	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423652	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12811795	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812329	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12816157	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819409	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12819575	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822685	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12826978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12827501	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17730331	0.98[ASN][1000 genomes]
rs17730391	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805668	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805669	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805670	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805671	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805672	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805673	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805676	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1805707	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805716	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2159959	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2159960	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2377678	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377679	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377680	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2889705	0.96[ASN][1000 genomes]
rs3026243	0.99[ASN][1000 genomes]
rs3026244	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026251	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3026252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34236568	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34365749	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34533518	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34651717	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34722215	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34920912	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35176717	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35377225	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35557651	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35596029	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35882740	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36061702	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741854	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4883206	0.96[ASN][1000 genomes]
rs4883208	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4883209	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56083774	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56143043	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56350793	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60267183	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915986	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61916012	0.81[ASN][1000 genomes]
rs7136274	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7136774	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311267	0.98[ASN][1000 genomes]
rs7311509	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759468	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759469	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759470	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957626	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9175200-9185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9182800-9186600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:9183000-9186400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9183000-9186600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:9183600-9187000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:9183800-9189200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:9184400-9189600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:9185000-9186400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9185000-9186400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:9185200-9186200	Enhancers	Primary T cells from cord blood	blood
13	chr12:9185200-9186800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:9185600-9185800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:9185600-9186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:9185600-9187000	Enhancers	HepG2	liver
17	chr12:9185600-9187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9185600-9189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:9185600-9189800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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