Variant report

Variant	rs35588430
Chromosome Location	chr12:45596179-45596180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45592656..45594257-chr12:45595934..45597437,2	K562	blood:
2	chr12:45592656..45594785-chr12:45595934..45598754,2	K562	blood:
3	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction
ENSG00000257738	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10437984	0.81[EUR][1000 genomes]
rs10459293	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10492284	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785557	0.81[EUR][1000 genomes]
rs10880757	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880758	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880760	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10880761	0.87[AMR][1000 genomes]
rs10880762	0.81[EUR][1000 genomes]
rs10880763	0.81[EUR][1000 genomes]
rs10880764	0.81[EUR][1000 genomes]
rs11182898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182899	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182903	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182904	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182905	0.91[EUR][1000 genomes]
rs11182908	0.91[EUR][1000 genomes]
rs11182912	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11182916	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182917	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182918	0.81[EUR][1000 genomes]
rs11182919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182921	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182922	0.81[EUR][1000 genomes]
rs11182923	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182931	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182935	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182936	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11182938	0.81[EUR][1000 genomes]
rs11182939	0.81[EUR][1000 genomes]
rs11182940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182941	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182942	0.87[ASN][1000 genomes]
rs11182943	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182944	0.81[EUR][1000 genomes]
rs11182946	0.81[EUR][1000 genomes]
rs11182947	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182953	0.82[ASN][1000 genomes]
rs11182954	0.82[ASN][1000 genomes]
rs11182955	0.82[ASN][1000 genomes]
rs11561532	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610233	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612203	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612233	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11615850	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12226944	0.91[ASN][1000 genomes]
rs12227678	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228733	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230322	0.81[EUR][1000 genomes]
rs12231753	0.91[EUR][1000 genomes]
rs12299174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320168	0.81[EUR][1000 genomes]
rs12320437	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12322087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814332	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12815115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815334	0.82[ASN][1000 genomes]
rs12815723	0.82[ASN][1000 genomes]
rs12822746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12828052	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17095551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17095557	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2052602	0.81[EUR][1000 genomes]
rs2408184	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2408185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34024171	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35054776	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.81[EUR][1000 genomes]
rs3759077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759080	0.81[EUR][1000 genomes]
rs3759081	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759082	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57560057	0.82[ASN][1000 genomes]
rs57797434	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923804	0.86[EUR][1000 genomes]
rs61923810	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923830	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7138983	0.90[AMR][1000 genomes]
rs7954282	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963038	0.81[EUR][1000 genomes]
rs7963057	0.81[EUR][1000 genomes]
rs9739519	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:45586600-45602400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:45592200-45599400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:45593400-45600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:45594800-45598600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45594800-45598800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:45594800-45599000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:45594800-45599000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:45594800-45599200	Weak transcription	GM12878-XiMat	blood
10	chr12:45595000-45597400	Weak transcription	Pancreas	Pancrea
11	chr12:45595000-45598600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:45595000-45598800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:45595000-45599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:45595200-45596800	Weak transcription	Liver	Liver
15	chr12:45595200-45598200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45595200-45598600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:45595200-45598600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:45595200-45598600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:45595200-45598800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:45595200-45598800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:45595200-45599000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:45595200-45599000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:45595200-45599400	Weak transcription	Dnd41	blood
24	chr12:45595200-45599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
26	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
27	chr12:45595400-45597000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:45595400-45598200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:45595400-45598600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:45595400-45599200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:45595400-45599200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:45595600-45596800	Weak transcription	HepG2	liver
34	chr12:45595600-45599000	Weak transcription	Primary T cells from cord blood	blood
35	chr12:45595800-45596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:45595800-45597000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:45596000-45597000	Weak transcription	Monocytes-CD14+_RO01746	blood

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