Variant report

Variant	rs11950577
Chromosome Location	chr5:112889112-112889113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112885339..112887167-chr5:112888570..112890991,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10035293	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10035297	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038504	1.00[JPT][hapmap]
rs10042141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10043783	1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs10043834	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10053052	1.00[JPT][hapmap]
rs10053157	1.00[JPT][hapmap]
rs10053622	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10055327	1.00[JPT][hapmap]
rs10057000	0.81[ASN][1000 genomes]
rs10057264	1.00[JPT][hapmap]
rs10066163	1.00[JPT][hapmap]
rs10070825	0.98[ASN][1000 genomes]
rs10075927	0.89[ASN][1000 genomes]
rs10078576	0.83[ASN][1000 genomes]
rs10155616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10440762	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10477494	0.98[ASN][1000 genomes]
rs11950116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11952758	1.00[JPT][hapmap]
rs11960559	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12332461	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12652864	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[EUR][1000 genomes]
rs12653115	0.81[EUR][1000 genomes]
rs12656898	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659463	0.81[EUR][1000 genomes]
rs12659593	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13354840	1.00[JPT][hapmap]
rs13356509	0.98[ASN][1000 genomes]
rs1582487	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135586	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17135601	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17135607	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17135618	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs17135647	0.82[EUR][1000 genomes]
rs1816063	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303718	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[MEX][hapmap]
rs28566618	0.81[ASN][1000 genomes]
rs28714108	0.81[ASN][1000 genomes]
rs28793421	0.81[ASN][1000 genomes]
rs36009332	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36015377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763136	0.81[EUR][1000 genomes]
rs3842916	1.00[JPT][hapmap]
rs3843500	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3843501	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3857436	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs41459745	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs4345310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56090613	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58014465	0.81[EUR][1000 genomes]
rs6866028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6879370	1.00[JPT][hapmap]
rs73781720	0.89[AMR][1000 genomes]
rs7705430	1.00[JPT][hapmap]
rs7709550	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7709818	1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs7715884	1.00[JPT][hapmap]
rs7719254	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7722421	1.00[JPT][hapmap]
rs7731451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9654506	0.98[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	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3430774	chr5:112888153-112892251	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
4	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
7	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
8	chr5:112867200-112904000	Weak transcription	Lung	lung
9	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
10	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
13	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
14	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:112867600-112891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:112868000-112893400	Strong transcription	Dnd41	blood
17	chr5:112868400-112893600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
23	chr5:112873000-112894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:112873000-112900600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
27	chr5:112874400-112902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:112877200-112905800	Weak transcription	Fetal Stomach	stomach
30	chr5:112877400-112892000	Weak transcription	Brain Germinal Matrix	brain
31	chr5:112878200-112894000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:112879200-112890800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:112879600-112895200	Weak transcription	Left Ventricle	heart
34	chr5:112879600-112902800	Weak transcription	Thymus	Thymus
35	chr5:112879600-112904200	Weak transcription	Gastric	stomach
36	chr5:112881800-112906400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:112882000-112893400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:112882600-112904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:112883000-112890000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:112883000-112899600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:112883000-112903200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:112883200-112895200	Weak transcription	NHEK	skin
44	chr5:112883200-112896400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:112883400-112895400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:112883800-112893200	Strong transcription	Adipose Nuclei	Adipose
47	chr5:112883800-112907400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112884200-112905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:112884200-112905600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:112884200-112908000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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