Variant report

Variant	rs10785557
Chromosome Location	chr12:45613382-45613383
allele	C/T
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	POLR2A	chr12:45613318-45613492	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr12:45613151-45613387	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:45611569..45613822-chr12:45799872..45802476,2	MCF-7	breast:
2	chr12:45609724..45611735-chr12:45612584..45615895,4	MCF-7	breast:
3	chr12:45613308..45615413-chr12:45619971..45621498,2	K562	blood:
4	chr12:45612938..45614519-chr12:45750771..45753564,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHA8P1	TF binding region
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1015626	0.81[AMR][1000 genomes]
rs10437984	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10459293	0.91[EUR][1000 genomes]
rs10459294	0.91[EUR][1000 genomes]
rs10492284	0.91[EUR][1000 genomes]
rs10748412	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10785556	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10785566	0.81[AMR][1000 genomes]
rs10880755	0.86[AMR][1000 genomes]
rs10880756	0.86[AMR][1000 genomes]
rs10880760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880761	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880763	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880764	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880771	0.81[AMR][1000 genomes]
rs11182903	0.81[EUR][1000 genomes]
rs11182904	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11182905	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182908	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182912	0.89[EUR][1000 genomes]
rs11182913	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182916	0.91[EUR][1000 genomes]
rs11182917	0.91[EUR][1000 genomes]
rs11182918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182919	0.91[EUR][1000 genomes]
rs11182921	0.91[EUR][1000 genomes]
rs11182922	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182923	0.91[EUR][1000 genomes]
rs11182927	0.91[EUR][1000 genomes]
rs11182931	0.91[EUR][1000 genomes]
rs11182935	0.91[EUR][1000 genomes]
rs11182936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182939	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182940	0.91[EUR][1000 genomes]
rs11182941	0.91[EUR][1000 genomes]
rs11182942	0.81[EUR][1000 genomes]
rs11182943	0.91[EUR][1000 genomes]
rs11182944	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182946	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182947	0.89[EUR][1000 genomes]
rs11182949	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11561532	0.91[EUR][1000 genomes]
rs11610233	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11611509	0.81[EUR][1000 genomes]
rs11612203	0.91[EUR][1000 genomes]
rs11612233	0.91[EUR][1000 genomes]
rs11615850	0.91[EUR][1000 genomes]
rs12226944	0.82[EUR][1000 genomes]
rs12227678	0.91[EUR][1000 genomes]
rs12228733	0.81[EUR][1000 genomes]
rs12230322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231753	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12299174	0.81[EUR][1000 genomes]
rs12320168	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12320437	0.89[EUR][1000 genomes]
rs12322087	0.81[EUR][1000 genomes]
rs12814332	0.89[EUR][1000 genomes]
rs12815115	0.91[EUR][1000 genomes]
rs12815577	0.91[ASN][1000 genomes]
rs12822746	0.91[EUR][1000 genomes]
rs12828052	0.85[EUR][1000 genomes]
rs1399721	0.81[AMR][1000 genomes]
rs17095551	0.91[EUR][1000 genomes]
rs17095557	0.91[EUR][1000 genomes]
rs2052602	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052603	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408184	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408185	0.91[EUR][1000 genomes]
rs34024171	0.91[EUR][1000 genomes]
rs35054776	0.91[EUR][1000 genomes]
rs35588430	0.81[EUR][1000 genomes]
rs35660715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759077	0.91[EUR][1000 genomes]
rs3759080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759081	0.91[EUR][1000 genomes]
rs3759082	0.87[EUR][1000 genomes]
rs3782131	0.91[EUR][1000 genomes]
rs4768085	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57797434	0.91[EUR][1000 genomes]
rs58444879	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	0.91[EUR][1000 genomes]
rs61923825	0.91[EUR][1000 genomes]
rs61923830	0.91[EUR][1000 genomes]
rs7135988	0.81[AMR][1000 genomes]
rs7136368	0.81[AMR][1000 genomes]
rs7138983	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728590	0.81[AMR][1000 genomes]
rs7304481	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7309615	0.81[AMR][1000 genomes]
rs7956033	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7963038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963057	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964635	0.83[ASN][1000 genomes]
rs7971900	0.80[AMR][1000 genomes]
rs929903	0.81[AMR][1000 genomes]
rs9739519	1.00[EUR][1000 genomes];1.00[ASN][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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45608400-45613400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:45608800-45613400	Active TSS	Aorta	Aorta
3	chr12:45610800-45613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:45611000-45613600	Weak transcription	Spleen	Spleen
5	chr12:45611000-45614400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45611000-45617600	Weak transcription	Gastric	stomach
7	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:45611200-45613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:45611200-45613800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:45611200-45614600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:45611200-45614800	Weak transcription	Pancreas	Pancrea
12	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45611400-45614000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:45611400-45614000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:45611400-45614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:45611400-45615800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:45611600-45613400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:45611600-45613600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:45611600-45614200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:45611800-45614400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:45611800-45615200	Enhancers	Fetal Lung	lung
23	chr12:45611800-45615600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:45611800-45615600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:45611800-45624800	Weak transcription	HSMM	muscle
26	chr12:45612000-45613400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:45612000-45613600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:45612000-45614000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:45612000-45614000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:45612000-45614000	Enhancers	Left Ventricle	heart
31	chr12:45612000-45614400	Enhancers	Fetal Heart	heart
32	chr12:45612000-45614600	Enhancers	Hela-S3	cervix
33	chr12:45612000-45614800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:45612000-45615600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:45612000-45617600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:45612200-45613400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:45612200-45613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:45612200-45613600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:45612200-45613800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:45612200-45614000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:45612200-45614000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:45612200-45614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:45612200-45614200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:45612200-45614400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:45612200-45614800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:45612200-45614800	Enhancers	Fetal Stomach	stomach
47	chr12:45612200-45615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:45612200-45615000	Enhancers	Placenta	Placenta
49	chr12:45612200-45615400	Enhancers	Colon Smooth Muscle	Colon
50	chr12:45612200-45615400	Enhancers	Placenta Amnion	Placenta Amnion

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