Variant report

Variant	rs7670050
Chromosome Location	chr4:144130597-144130598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144129425..144131595-chr4:144140468..144141998,2	K562	blood:
2	chr4:144128091..144132515-chr4:144134805..144137266,4	K562	blood:
3	chr4:144130095..144132510-chr4:144139242..144141968,3	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10000831	1.00[ASN][1000 genomes]
rs10461277	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10461278	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10461279	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519679	0.95[EUR][1000 genomes]
rs1108827	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11933189	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11935914	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11945672	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12711407	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13105227	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13105258	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13111543	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13113118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13113907	1.00[ASN][1000 genomes]
rs13130995	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13131510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13141368	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13141417	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142436	0.80[EUR][1000 genomes]
rs13145081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17017424	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2102494	1.00[ASN][1000 genomes]
rs28452225	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28654139	1.00[ASN][1000 genomes]
rs28797214	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28891127	1.00[ASN][1000 genomes]
rs300907	0.88[EUR][1000 genomes]
rs300932	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs300933	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs300937	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs300942	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300944	0.90[EUR][1000 genomes]
rs300945	0.90[EUR][1000 genomes]
rs300950	0.90[EUR][1000 genomes]
rs34176541	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34198661	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34225955	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34376112	1.00[ASN][1000 genomes]
rs34461753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34474130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34589296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34652171	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34770317	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34780033	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35021023	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35095943	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35143494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35305979	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35311425	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35416586	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35549285	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35607189	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35887480	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35909303	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35971728	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35988039	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554015	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4690751	1.00[ASN][1000 genomes]
rs4690772	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693016	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55846476	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56085707	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56142323	0.93[EUR][1000 genomes]
rs603861	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603934	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs604746	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6537143	1.00[ASN][1000 genomes]
rs6834491	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6842633	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6850423	0.90[AFR][1000 genomes]
rs6853356	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6857448	1.00[ASN][1000 genomes]
rs686770	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610408	1.00[ASN][1000 genomes]
rs71610420	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610426	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610427	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610428	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610429	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71610431	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs726022	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7655033	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7661883	1.00[ASN][1000 genomes]
rs7670426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7674403	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7686023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9637656	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9994551	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997167	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	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	chr4:144107400-144137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:144109200-144142800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:144109800-144138200	Strong transcription	Fetal Thymus	thymus
4	chr4:144110200-144136600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr4:144110200-144138000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:144110200-144145600	Weak transcription	Stomach Mucosa	stomach
7	chr4:144110800-144133000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:144110800-144137400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:144111400-144131400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:144111400-144137400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:144111800-144136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:144113000-144137400	Strong transcription	Dnd41	blood
13	chr4:144114600-144137400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:144114800-144136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:144118400-144134800	Weak transcription	Gastric	stomach
16	chr4:144118400-144142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:144118400-144142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:144118400-144143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:144118400-144150000	Weak transcription	Aorta	Aorta
20	chr4:144118800-144135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:144118800-144136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:144119200-144136200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:144119400-144144400	Weak transcription	Hela-S3	cervix
24	chr4:144120400-144133400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:144120600-144134800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:144120600-144142800	Weak transcription	Spleen	Spleen
27	chr4:144120600-144147000	Weak transcription	Esophagus	oesophagus
28	chr4:144120800-144133400	Weak transcription	Brain Substantia Nigra	brain
29	chr4:144120800-144149400	Weak transcription	Pancreas	Pancrea
30	chr4:144121000-144139800	Weak transcription	Brain Angular Gyrus	brain
31	chr4:144122000-144132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:144122000-144134800	Weak transcription	Psoas Muscle	Psoas
33	chr4:144122200-144134800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:144122400-144133400	Weak transcription	Small Intestine	intestine
35	chr4:144122400-144145600	Weak transcription	Right Ventricle	heart
36	chr4:144122600-144132600	Weak transcription	Left Ventricle	heart
37	chr4:144122600-144134200	Weak transcription	Thymus	Thymus
38	chr4:144122600-144134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:144122800-144144600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:144122800-144145800	Weak transcription	Colonic Mucosa	Colon
41	chr4:144123400-144131200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:144124200-144136800	Strong transcription	GM12878-XiMat	blood
43	chr4:144124400-144137600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:144124600-144136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:144124600-144137600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:144125800-144155600	Weak transcription	Fetal Stomach	stomach
47	chr4:144126000-144136200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:144126000-144142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:144126400-144135000	Weak transcription	Fetal Brain Male	brain
50	chr4:144126400-144135000	Weak transcription	Fetal Brain Female	brain

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