Variant report

Variant	rs7133398
Chromosome Location	chr12:49846626-49846627
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49845947..49847625-chr12:49850683..49853444,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10783314	0.93[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10875955	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10875958	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168981	0.90[LWK][hapmap]
rs11169005	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[LWK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169008	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169009	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169014	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169016	0.85[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap]
rs11169043	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169045	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169048	0.88[ASW][hapmap];0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap]
rs11169058	0.88[ASW][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.85[YRI][hapmap]
rs11169059	0.88[ASW][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs11169063	0.94[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.80[YRI][hapmap]
rs11169073	0.86[CHD][hapmap]
rs11169080	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs11169081	0.86[CHD][hapmap]
rs11169082	0.86[CHD][hapmap]
rs11615710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11833411	0.86[CHD][hapmap]
rs12296440	0.83[ASW][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.85[YRI][hapmap]
rs12299505	0.86[CHD][hapmap]
rs12301632	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs12306118	0.85[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap]
rs12315996	0.85[CEU][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap]
rs12320284	0.85[CEU][hapmap]
rs12321819	0.86[CHD][hapmap]
rs17123808	0.86[CHD][hapmap]
rs2272478	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs2303305	0.92[CHD][hapmap]
rs35275181	0.84[CHD][hapmap]
rs3815832	0.86[CHD][hapmap]
rs3887727	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs4073998	1.00[CHB][hapmap]
rs4993294	0.84[CHD][hapmap]
rs56322609	0.81[ASN][1000 genomes]
rs57202083	0.81[ASN][1000 genomes]
rs58125498	0.82[ASN][1000 genomes]
rs6580707	0.85[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap]
rs6580709	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs6580715	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132684	0.81[EUR][1000 genomes]
rs7132792	0.89[MEX][hapmap]
rs7139061	0.85[CEU][hapmap]
rs7294648	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs7295556	0.88[ASW][hapmap];0.93[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7299609	1.00[CHB][hapmap]
rs74089508	0.81[ASN][1000 genomes]
rs74089512	0.81[ASN][1000 genomes]
rs74089515	0.81[ASN][1000 genomes]
rs7488923	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7953911	0.86[CHD][hapmap]
rs7955541	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs7962951	0.85[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap]
rs7965658	0.86[CHD][hapmap];0.89[MEX][hapmap]
rs7969010	0.85[CEU][hapmap]
rs7969099	0.85[CEU][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs7970059	0.88[EUR][1000 genomes]
rs7970241	0.86[CHD][hapmap]
rs7973389	0.86[CHD][hapmap]
rs7974420	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.81[YRI][hapmap];0.88[EUR][1000 genomes]
rs7975599	0.86[CHD][hapmap]
rs7975712	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7977389	0.86[CHD][hapmap]
rs7980731	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[LWK][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs8626	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs876889	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
2	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
4	chr12:49820400-49854400	Weak transcription	Dnd41	blood
5	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
8	chr12:49823200-49856000	Weak transcription	NHEK	skin
9	chr12:49823200-49856400	Weak transcription	HSMM	muscle
10	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:49823400-49876000	Weak transcription	Osteobl	bone
14	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:49829400-49855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:49831200-49849000	Weak transcription	NH-A	brain
17	chr12:49831600-49852000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:49833000-49849200	Weak transcription	Fetal Intestine Large	intestine
19	chr12:49833000-49849800	Weak transcription	K562	blood
20	chr12:49833400-49848600	Weak transcription	Psoas Muscle	Psoas
21	chr12:49833600-49849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:49833600-49854600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:49834000-49849400	Weak transcription	Left Ventricle	heart
24	chr12:49834200-49847400	Weak transcription	HepG2	liver
25	chr12:49837600-49856000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:49839200-49876000	Weak transcription	Fetal Thymus	thymus
27	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
28	chr12:49840400-49848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:49840400-49849800	Weak transcription	Aorta	Aorta
30	chr12:49840600-49848200	Weak transcription	A549	lung
31	chr12:49840600-49849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:49840600-49849600	Weak transcription	Fetal Intestine Small	intestine
33	chr12:49840600-49856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:49840600-49875800	Weak transcription	Hela-S3	cervix
35	chr12:49840800-49856000	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:49841800-49855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:49843000-49849600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:49843400-49856000	Weak transcription	Fetal Stomach	stomach
39	chr12:49845600-49856000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:49845800-49856800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:49846000-49879800	Weak transcription	Fetal Lung	lung
42	chr12:49846200-49849200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:49846200-49855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:49846400-49854600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:49846400-49854600	Weak transcription	GM12878-XiMat	blood
46	chr12:49846400-49878400	Weak transcription	Rectal Mucosa Donor 29	rectum

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