Variant report

Variant	rs12442282
Chromosome Location	chr15:76441982-76441983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76441645..76443484-chr15:76650484..76652153,2	K562	blood:
2	chr15:76440836..76444169-chr15:76451014..76453553,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11856680	0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12441886	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442982	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592638	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12902022	1.00[ASW][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs17430570	1.00[ASW][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1874767	0.81[AMR][1000 genomes]
rs2088485	0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs2405416	0.92[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs2405417	0.81[AMR][1000 genomes]
rs2935969	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2935978	0.83[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs2935979	0.83[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes]
rs2955724	0.92[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2955726	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2955728	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2955731	0.80[ASN][1000 genomes]
rs2955757	0.87[ASN][1000 genomes]
rs2959867	0.84[AMR][1000 genomes]
rs34154477	0.81[ASN][1000 genomes]
rs34482917	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35798669	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36057974	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4886773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886774	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56853800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56998110	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58555930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66563276	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72736828	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73446449	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868576	1.00[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904279	0.92[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes]
rs904280	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes]
rs904282	0.83[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes]
rs904283	0.83[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1039595	chr15:76431374-76483342	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1045860	chr15:76431374-76485536	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv1053643	chr15:76431374-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv1052496	chr15:76432823-76484981	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1035806	chr15:76435640-76483342	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1047539	chr15:76435640-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1054289	chr15:76437970-76485966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76429400-76442800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:76429600-76442800	Weak transcription	Brain Angular Gyrus	brain
3	chr15:76432400-76442800	Weak transcription	Gastric	stomach
4	chr15:76432600-76442800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:76433000-76442800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr15:76433000-76452800	Weak transcription	Right Atrium	heart
7	chr15:76438200-76442400	Weak transcription	GM12878-XiMat	blood
8	chr15:76439800-76442800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:76440000-76442600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:76440400-76444400	Enhancers	NHDF-Ad	bronchial
11	chr15:76440400-76444600	Enhancers	Placenta	Placenta
12	chr15:76440400-76445000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:76440400-76447000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:76440600-76442400	Weak transcription	Pancreas	Pancrea
15	chr15:76440600-76442600	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:76440600-76443000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:76440600-76444400	Enhancers	NHLF	lung
18	chr15:76440800-76442000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:76440800-76442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:76440800-76442200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:76440800-76442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:76440800-76442200	Weak transcription	HMEC	breast
23	chr15:76440800-76442400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:76440800-76442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:76440800-76442400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:76440800-76442400	Weak transcription	Ovary	ovary
27	chr15:76440800-76442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:76440800-76442400	Weak transcription	Stomach Mucosa	stomach
29	chr15:76440800-76442400	Weak transcription	NHEK	skin
30	chr15:76440800-76442600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:76440800-76442600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr15:76440800-76442600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:76440800-76442600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:76440800-76442800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:76440800-76442800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:76440800-76442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:76440800-76443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:76440800-76443000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:76440800-76443000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:76440800-76443200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:76440800-76443200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:76440800-76443200	Weak transcription	A549	lung
43	chr15:76440800-76445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:76440800-76445600	Weak transcription	Spleen	Spleen
45	chr15:76441000-76442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:76441000-76442400	Weak transcription	Right Ventricle	heart
47	chr15:76441000-76442600	Weak transcription	Colonic Mucosa	Colon
48	chr15:76441000-76442800	Weak transcription	Hela-S3	cervix
49	chr15:76441200-76442800	Weak transcription	Fetal Lung	lung
50	chr15:76441200-76443000	Enhancers	Skeletal Muscle Female	skeletal muscle

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