Variant report

Variant	rs12510995
Chromosome Location	chr4:26664023-26664024
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	chr4:26662958..26665135-chr4:26667444..26669654,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10000211	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10939128	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10939132	0.88[EUR][1000 genomes]
rs10939134	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10939135	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1129230	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1135204	0.83[EUR][1000 genomes]
rs11721891	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11724595	0.84[EUR][1000 genomes]
rs11726910	0.82[ASN][1000 genomes]
rs11733702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11931159	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11937465	0.84[EUR][1000 genomes]
rs11942145	0.96[CEU][hapmap]
rs11944010	0.85[EUR][1000 genomes]
rs12498454	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12501439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504472	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12505249	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12505393	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12507314	0.96[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs12510371	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12640312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640951	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12644574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12647180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12650361	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs13105574	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13111381	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13111922	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13121299	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13121378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13123511	0.83[EUR][1000 genomes]
rs13125612	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13131355	0.86[EUR][1000 genomes]
rs13136955	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13138699	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13138712	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13146364	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13146615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13151477	0.83[EUR][1000 genomes]
rs1565303	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1565304	0.90[EUR][1000 genomes]
rs1619573	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1641562	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1861470	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2111006	1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309413	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs260934	0.96[EUR][1000 genomes]
rs260935	0.96[EUR][1000 genomes]
rs260937	0.94[EUR][1000 genomes]
rs260939	0.90[EUR][1000 genomes]
rs260946	0.85[EUR][1000 genomes]
rs260948	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs260950	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs260952	0.88[EUR][1000 genomes]
rs260956	0.90[EUR][1000 genomes]
rs260958	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs260959	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs260960	0.92[EUR][1000 genomes]
rs2908823	0.88[EUR][1000 genomes]
rs34010107	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34241157	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34832881	0.87[EUR][1000 genomes]
rs34837351	0.83[EUR][1000 genomes]
rs35232657	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35654367	0.85[EUR][1000 genomes]
rs4234981	0.84[EUR][1000 genomes]
rs4321621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4355378	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4365714	0.88[EUR][1000 genomes]
rs4437235	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4467548	0.88[EUR][1000 genomes]
rs4527463	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4588446	0.82[EUR][1000 genomes]
rs4590010	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4692551	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56150091	0.84[EUR][1000 genomes]
rs60503601	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60915838	0.87[EUR][1000 genomes]
rs61690082	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62299027	0.82[EUR][1000 genomes]
rs62300967	0.83[EUR][1000 genomes]
rs62300968	0.83[EUR][1000 genomes]
rs62409934	0.87[EUR][1000 genomes]
rs62412678	0.87[EUR][1000 genomes]
rs6448458	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67655603	0.90[EUR][1000 genomes]
rs6821370	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6858652	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7655144	0.88[EUR][1000 genomes]
rs7657453	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7658999	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7672267	0.85[EUR][1000 genomes]
rs7677353	0.81[EUR][1000 genomes]
rs7683324	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7687087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9790514	0.86[EUR][1000 genomes]
rs9790776	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522423	chr4:26625185-26706342	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv878768	chr4:26625185-26766687	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524115	chr4:26631178-26706342	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26623000-26670400	Weak transcription	Gastric	stomach
2	chr4:26625600-26665600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:26629200-26680800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:26635000-26675200	Weak transcription	NHDF-Ad	bronchial
5	chr4:26640000-26691400	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:26642400-26666600	Weak transcription	Left Ventricle	heart
7	chr4:26642400-26697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:26642800-26680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:26642800-26680800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:26656800-26679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:26657400-26665000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:26657600-26664600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:26657600-26664800	Weak transcription	Spleen	Spleen
14	chr4:26657600-26665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:26657600-26666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:26657600-26676800	Weak transcription	Pancreas	Pancrea
17	chr4:26657600-26678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:26657600-26679200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:26657600-26680600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:26657800-26678600	Weak transcription	Fetal Lung	lung
21	chr4:26658400-26679800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:26658400-26679800	Weak transcription	Fetal Intestine Small	intestine
23	chr4:26658600-26669800	Weak transcription	Brain Germinal Matrix	brain
24	chr4:26659000-26674200	Weak transcription	NHLF	lung
25	chr4:26659000-26677600	Weak transcription	Dnd41	blood
26	chr4:26659600-26687600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:26660000-26680800	Weak transcription	Esophagus	oesophagus
28	chr4:26660200-26672400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:26660200-26679800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:26660200-26680200	Weak transcription	Fetal Brain Male	brain
31	chr4:26660400-26666400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:26660600-26689000	Weak transcription	HMEC	breast
33	chr4:26660800-26679200	Weak transcription	NHEK	skin
34	chr4:26660800-26691400	Weak transcription	Psoas Muscle	Psoas
35	chr4:26661000-26680400	Weak transcription	Liver	Liver
36	chr4:26661200-26666000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:26661200-26666800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:26661600-26670800	Strong transcription	Fetal Thymus	thymus
39	chr4:26661600-26672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:26661800-26665800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:26662000-26665000	Strong transcription	Osteobl	bone
42	chr4:26662000-26665200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:26662000-26665400	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:26662000-26665600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:26662200-26664800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:26662200-26669600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr4:26662600-26666800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:26662800-26665000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:26662800-26665400	Strong transcription	NH-A	brain
50	chr4:26662800-26680000	Weak transcription	Fetal Brain Female	brain

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