Variant report

Variant	rs897056
Chromosome Location	chr12:50137281-50137282
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50134227..50139526-chr12:50218668..50224471,9	K562	blood:
2	chr12:50099890..50103139-chr12:50133844..50137712,5	MCF-7	breast:
3	chr12:50032692..50036397-chr12:50134121..50137732,4	K562	blood:
4	chr12:50133925..50140140-chr12:50217980..50223924,8	K562	blood:
5	chr12:49658686..49660303-chr12:50134666..50137424,2	MCF-7	breast:
6	chr12:50023902..50034192-chr12:50133489..50138270,11	K562	blood:
7	chr12:50135738..50138027-chr12:50197622..50200585,2	K562	blood:
8	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
9	chr12:50134026..50138215-chr12:50236682..50241219,8	K562	blood:
10	chr12:50135126..50137346-chr12:50220595..50223350,3	MCF-7	breast:
11	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258057	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000257570	Chromatin interaction
ENSG00000186666	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1049986	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10875964	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10875968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169069	0.81[ASN][1000 genomes]
rs11169073	0.81[ASN][1000 genomes]
rs11169076	0.81[ASN][1000 genomes]
rs11169080	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11169081	0.81[ASN][1000 genomes]
rs11169082	0.81[ASN][1000 genomes]
rs11169092	0.86[ASN][1000 genomes]
rs11169097	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11169101	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169104	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169106	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169109	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169111	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169112	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169113	0.85[AMR][1000 genomes]
rs11169118	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169125	0.89[AMR][1000 genomes]
rs11169127	0.87[AMR][1000 genomes]
rs11169133	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11615488	0.95[ASN][1000 genomes]
rs11833411	0.86[ASN][1000 genomes]
rs11834380	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12296586	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12299505	0.86[ASN][1000 genomes]
rs12299513	0.86[ASN][1000 genomes]
rs12301824	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12303310	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12304796	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12305460	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12308256	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12309940	0.92[ASN][1000 genomes]
rs12310510	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12311839	0.81[ASN][1000 genomes]
rs12314795	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12314878	0.81[ASN][1000 genomes]
rs12315224	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12315791	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12316284	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12317646	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12320556	0.81[ASN][1000 genomes]
rs12321169	0.89[AMR][1000 genomes]
rs12321819	0.81[ASN][1000 genomes]
rs13066	0.81[ASN][1000 genomes]
rs13906	0.81[ASN][1000 genomes]
rs1470906	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1574326	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17123808	0.81[ASN][1000 genomes]
rs17123981	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2005195	0.81[ASN][1000 genomes]
rs2241418	0.81[ASN][1000 genomes]
rs2278068	0.81[ASN][1000 genomes]
rs2278069	0.81[ASN][1000 genomes]
rs2336058	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2878532	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3815832	0.81[ASN][1000 genomes]
rs3887727	0.82[EUR][1000 genomes]
rs3887728	0.81[ASN][1000 genomes]
rs4045193	0.86[ASN][1000 genomes]
rs4073998	0.85[AMR][1000 genomes]
rs4133070	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4563	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4584654	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55853522	0.81[ASN][1000 genomes]
rs57191490	0.94[ASN][1000 genomes]
rs57342147	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57463238	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58278271	0.83[ASN][1000 genomes]
rs58446833	0.87[AMR][1000 genomes]
rs59233136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59849800	0.87[AMR][1000 genomes]
rs59940006	0.81[ASN][1000 genomes]
rs60121503	0.94[ASN][1000 genomes]
rs60402517	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61512987	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61616163	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61620972	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61710637	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6580719	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7131915	0.81[ASN][1000 genomes]
rs7136052	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7137976	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7296281	0.81[ASN][1000 genomes]
rs7299002	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7299609	0.84[EUR][1000 genomes]
rs7301209	0.81[ASN][1000 genomes]
rs7306877	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309607	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312658	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313738	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73305008	0.81[ASN][1000 genomes]
rs73305012	0.81[ASN][1000 genomes]
rs73305085	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73305098	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73306808	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73309030	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74089182	0.94[ASN][1000 genomes]
rs7688	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7952734	0.97[ASN][1000 genomes]
rs7953911	0.81[ASN][1000 genomes]
rs7954994	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7955586	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956089	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956181	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7962645	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7962863	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963954	0.92[ASN][1000 genomes]
rs7965658	0.83[ASN][1000 genomes]
rs7967624	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7970241	0.81[ASN][1000 genomes]
rs7973389	0.81[ASN][1000 genomes]
rs7975599	0.81[ASN][1000 genomes]
rs7977389	0.81[ASN][1000 genomes]
rs7979262	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7979285	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7980979	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8626	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9804749	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804971	0.89[AMR][1000 genomes];0.91[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50134600-50137400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr12:50134600-50137400	Active TSS	GM12878-XiMat	blood
3	chr12:50134800-50137600	Active TSS	NHDF-Ad	bronchial
4	chr12:50134800-50137600	Active TSS	NHLF	lung
5	chr12:50135000-50137400	Active TSS	HepG2	liver
6	chr12:50135000-50138200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:50135000-50138200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:50136000-50137400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr12:50136000-50137400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:50136000-50137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:50136000-50137400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:50136000-50137400	Flanking Active TSS	NH-A	brain
13	chr12:50136000-50137600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:50136200-50137400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:50136200-50137400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:50136200-50137400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:50136200-50137400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:50136200-50137400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:50136200-50137400	Flanking Active TSS	Osteobl	bone
20	chr12:50136200-50137600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:50136200-50138000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:50136400-50137400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:50136400-50138000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:50136400-50138800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:50136400-50140800	Weak transcription	Gastric	stomach
26	chr12:50136600-50137400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:50136600-50137800	Flanking Active TSS	HUVEC	blood vessel
28	chr12:50136600-50138000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:50136600-50138000	Flanking Active TSS	Hela-S3	cervix
30	chr12:50136600-50138200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:50136600-50138600	Enhancers	Small Intestine	intestine
32	chr12:50136600-50139000	Flanking Active TSS	Liver	Liver
33	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:50136800-50137400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:50136800-50137400	Enhancers	Fetal Brain Male	brain
36	chr12:50136800-50137400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
37	chr12:50136800-50137400	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr12:50136800-50137400	Flanking Active TSS	Left Ventricle	heart
39	chr12:50136800-50137400	Flanking Active TSS	Psoas Muscle	Psoas
40	chr12:50136800-50137400	Enhancers	Spleen	Spleen
41	chr12:50136800-50137600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:50136800-50137600	Enhancers	Placenta	Placenta
43	chr12:50136800-50137800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:50136800-50138000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:50136800-50138200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:50136800-50138200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:50136800-50138200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:50136800-50138400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:50136800-50138400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:50136800-50138600	Enhancers	Brain Angular Gyrus	brain

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