Variant report

Variant	rs2042058
Chromosome Location	chr12:47051712-47051713
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46751583..46753293-chr12:47049684..47052247,2	K562	blood:
2	chr12:46661281..46663244-chr12:47050206..47052004,2	MCF-7	breast:
3	chr12:46831691..46833742-chr12:47051403..47054145,2	K562	blood:
4	chr12:46759450..46767729-chr12:47050364..47062392,28	MCF-7	breast:
5	chr12:46824063..46826118-chr12:47049459..47052232,2	K562	blood:
6	chr12:46760654..46769647-chr12:47051646..47061944,32	MCF-7	breast:
7	chr12:46762091..46764128-chr12:47051293..47053503,2	K562	blood:
8	chr12:46762091..46766718-chr12:47051293..47055848,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap]
rs10880975	1.00[CEU][hapmap]
rs10880976	1.00[CEU][hapmap]
rs10880977	1.00[CEU][hapmap]
rs10880980	0.85[EUR][1000 genomes]
rs11183497	1.00[CEU][hapmap]
rs11183524	0.88[EUR][1000 genomes]
rs11183536	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183539	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183547	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183550	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11829502	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11830099	0.93[EUR][1000 genomes]
rs11830501	0.93[EUR][1000 genomes]
rs11831177	1.00[CEU][hapmap]
rs11831920	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11831929	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11832316	0.93[EUR][1000 genomes]
rs11833393	0.88[EUR][1000 genomes]
rs11834607	0.88[EUR][1000 genomes]
rs11835517	0.93[EUR][1000 genomes]
rs11835974	0.93[EUR][1000 genomes]
rs11836915	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11836940	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11837104	0.93[EUR][1000 genomes]
rs12300125	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12310635	0.85[EUR][1000 genomes]
rs12578813	1.00[EUR][1000 genomes]
rs12579089	1.00[EUR][1000 genomes]
rs12579348	0.93[EUR][1000 genomes]
rs12579976	0.93[EUR][1000 genomes]
rs12580092	0.90[EUR][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs12580356	1.00[EUR][1000 genomes]
rs12580488	0.96[EUR][1000 genomes]
rs12581205	0.91[EUR][1000 genomes]
rs12581311	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581366	1.00[EUR][1000 genomes]
rs12582013	0.96[EUR][1000 genomes]
rs12582056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582305	1.00[CEU][hapmap]
rs12582476	1.00[EUR][1000 genomes]
rs17096991	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17096995	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17097002	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17097009	0.93[EUR][1000 genomes]
rs17097022	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17121410	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17121412	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17594275	0.96[EUR][1000 genomes]
rs17611638	1.00[EUR][1000 genomes]
rs1946175	0.88[EUR][1000 genomes]
rs2193663	0.93[EUR][1000 genomes]
rs2216439	0.90[EUR][1000 genomes]
rs235600	0.86[AMR][1000 genomes]
rs235601	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs235602	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs235607	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs235610	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs235616	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs235617	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs235621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs235622	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs235625	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs235626	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs235627	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408576	0.93[EUR][1000 genomes]
rs2408577	0.88[EUR][1000 genomes]
rs2430937	0.88[EUR][1000 genomes]
rs2430939	0.88[EUR][1000 genomes]
rs2430940	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2430941	0.88[EUR][1000 genomes]
rs2430942	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2430943	0.88[EUR][1000 genomes]
rs2430946	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2430947	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2471581	0.85[EUR][1000 genomes]
rs2471583	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2471588	0.88[EUR][1000 genomes]
rs2471594	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471601	0.88[EUR][1000 genomes]
rs2471602	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471605	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471608	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2471617	0.88[EUR][1000 genomes]
rs2471618	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28768973	0.88[EUR][1000 genomes]
rs2897969	0.89[EUR][1000 genomes]
rs2909411	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2960450	0.88[EUR][1000 genomes]
rs34008890	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35096979	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073924	0.85[EUR][1000 genomes]
rs4604970	0.93[EUR][1000 genomes]
rs4768125	0.81[EUR][1000 genomes]
rs4768741	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768742	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768744	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56111534	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56152575	0.93[EUR][1000 genomes]
rs56181923	0.93[EUR][1000 genomes]
rs56271434	0.93[EUR][1000 genomes]
rs56399247	0.85[EUR][1000 genomes]
rs57158113	0.85[EUR][1000 genomes]
rs57370043	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57658610	0.88[EUR][1000 genomes]
rs58449317	0.93[EUR][1000 genomes]
rs58503088	0.93[EUR][1000 genomes]
rs58561072	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58813899	0.93[EUR][1000 genomes]
rs59903937	0.93[EUR][1000 genomes]
rs60191997	0.88[EUR][1000 genomes]
rs60432604	0.85[EUR][1000 genomes]
rs60669661	0.93[EUR][1000 genomes]
rs60681792	0.93[EUR][1000 genomes]
rs61072098	0.84[EUR][1000 genomes]
rs61355826	0.88[EUR][1000 genomes]
rs61641663	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6582666	1.00[CEU][hapmap]
rs7138914	0.93[EUR][1000 genomes]
rs7295471	1.00[CEU][hapmap]
rs7302876	0.84[EUR][1000 genomes]
rs7308386	0.93[EUR][1000 genomes]
rs7310326	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7310408	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73282109	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73290381	0.85[EUR][1000 genomes]
rs73290402	0.93[EUR][1000 genomes]
rs73291964	0.93[EUR][1000 genomes]
rs73291976	0.93[EUR][1000 genomes]
rs73291980	0.93[EUR][1000 genomes]
rs73292000	0.93[EUR][1000 genomes]
rs73292001	0.88[EUR][1000 genomes]
rs73293911	0.93[EUR][1000 genomes]
rs73293919	0.93[EUR][1000 genomes]
rs7484802	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7488464	0.88[EUR][1000 genomes]
rs765707	0.93[EUR][1000 genomes]
rs766794	1.00[EUR][1000 genomes]
rs7976710	0.93[EUR][1000 genomes]
rs9669050	0.88[EUR][1000 genomes]
rs977069	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47041000-47054200	Weak transcription	Fetal Kidney	kidney
2	chr12:47042200-47051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:47042200-47054800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:47043400-47053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
6	chr12:47046800-47051800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:47046800-47057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:47048000-47051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:47048600-47052600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:47048600-47053000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:47049200-47053600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:47049400-47053400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:47050400-47052600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:47050600-47052800	Weak transcription	Aorta	Aorta
15	chr12:47050800-47051800	Weak transcription	Ovary	ovary
16	chr12:47050800-47052600	Enhancers	Hela-S3	cervix
17	chr12:47050800-47052800	Enhancers	Osteobl	bone
18	chr12:47050800-47053000	Enhancers	Adipose Nuclei	Adipose
19	chr12:47050800-47053000	Weak transcription	HepG2	liver
20	chr12:47050800-47053000	Enhancers	NHDF-Ad	bronchial
21	chr12:47050800-47055000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:47050800-47056000	Enhancers	NHLF	lung
23	chr12:47051000-47052000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:47051000-47052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:47051000-47052800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:47051000-47053000	Weak transcription	Right Atrium	heart
27	chr12:47051000-47055000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:47051000-47056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:47051200-47055000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:47051400-47052000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:47051400-47052000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:47051400-47053000	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:47051400-47053000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:47051400-47054600	Enhancers	A549	lung
35	chr12:47051400-47055600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:47051400-47055800	Enhancers	Fetal Heart	heart
37	chr12:47051400-47055800	Enhancers	HSMM	muscle
38	chr12:47051400-47056200	Enhancers	HUVEC	blood vessel
39	chr12:47051400-47059800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:47051600-47051800	Enhancers	HMEC	breast
41	chr12:47051600-47052000	Enhancers	Fetal Lung	lung
42	chr12:47051600-47052000	Enhancers	NH-A	brain
43	chr12:47051600-47052200	Enhancers	K562	blood
44	chr12:47051600-47052400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:47051600-47053000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:47051600-47053000	Enhancers	NHEK	skin
47	chr12:47051600-47053200	Enhancers	Dnd41	blood
48	chr12:47051600-47055600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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