Variant report

Variant	rs3759077
Chromosome Location	chr12:45612209-45612210
allele	C/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	MXI1	chr12:45608368-45612550	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr12:45611981-45612256	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:45611569..45613822-chr12:45799872..45802476,2	MCF-7	breast:
2	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:
3	chr12:45600941..45603033-chr12:45611069..45612571,2	K562	blood:

Variant related genes	Relation type
PLEKHA8P1	TF binding region
ENSG00000257738	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.82[ASN][1000 genomes]
rs10492284	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785556	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10880758	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880761	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.82[ASN][1000 genomes]
rs10880766	0.82[ASN][1000 genomes]
rs11182898	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182899	0.93[ASN][1000 genomes]
rs11182903	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182915	0.83[AFR][1000 genomes]
rs11182916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.89[ASN][1000 genomes]
rs11182954	0.89[ASN][1000 genomes]
rs11182955	0.89[ASN][1000 genomes]
rs11182957	0.82[ASN][1000 genomes]
rs11561532	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614089	0.82[ASN][1000 genomes]
rs11615850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.82[ASN][1000 genomes]
rs12228733	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.89[ASN][1000 genomes]
rs12815723	0.89[ASN][1000 genomes]
rs12818421	0.86[ASN][1000 genomes]
rs12822746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032811	0.82[ASN][1000 genomes]
rs35054776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35588430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.89[ASN][1000 genomes]
rs57797434	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954282	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7963038	0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45608200-45612400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:45608400-45612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:45608400-45613400	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:45608600-45612400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:45608600-45612400	Active TSS	Fetal Intestine Large	intestine
6	chr12:45608600-45612400	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:45608600-45612400	Active TSS	NHLF	lung
8	chr12:45608600-45612800	Active TSS	Ovary	ovary
9	chr12:45608800-45612800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:45608800-45613400	Active TSS	Aorta	Aorta
11	chr12:45610400-45612600	Active TSS	Right Atrium	heart
12	chr12:45610600-45612400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:45610800-45612400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr12:45610800-45612400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:45610800-45612400	Flanking Active TSS	Liver	Liver
16	chr12:45610800-45612400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:45610800-45613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:45611000-45612400	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:45611000-45612600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:45611000-45612800	Weak transcription	Small Intestine	intestine
21	chr12:45611000-45613600	Weak transcription	Spleen	Spleen
22	chr12:45611000-45614400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:45611000-45617600	Weak transcription	Gastric	stomach
24	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:45611200-45612400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:45611200-45612800	Weak transcription	Esophagus	oesophagus
27	chr12:45611200-45613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:45611200-45613000	Weak transcription	Brain Anterior Caudate	brain
29	chr12:45611200-45613000	Weak transcription	Lung	lung
30	chr12:45611200-45613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:45611200-45613200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:45611200-45613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:45611200-45613800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:45611200-45614600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:45611200-45614800	Weak transcription	Pancreas	Pancrea
36	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:45611400-45612400	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:45611400-45612400	Flanking Active TSS	Fetal Kidney	kidney
39	chr12:45611400-45612400	Flanking Active TSS	Dnd41	blood
40	chr12:45611400-45614000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:45611400-45614000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:45611400-45614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:45611400-45615800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:45611600-45612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:45611600-45612400	Enhancers	Brain Hippocampus Middle	brain
46	chr12:45611600-45612600	Flanking Active TSS	A549	lung
47	chr12:45611600-45612600	Flanking Active TSS	NHEK	skin
48	chr12:45611600-45612800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:45611600-45612800	Flanking Active TSS	HepG2	liver
50	chr12:45611600-45613400	Weak transcription	H9 Cell Line	embryonic stem cell

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