Variant report

Variant	rs8141680
Chromosome Location	chr22:30300579-30300580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30294545..30297116-chr22:30298361..30301240,2	K562	blood:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
3	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
4	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:

Variant related genes	Relation type
ENSG00000207455	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1071888	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076137	0.81[EUR][1000 genomes]
rs12168552	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131278	0.89[YRI][hapmap]
rs131291	0.89[YRI][hapmap]
rs131296	0.89[YRI][hapmap]
rs140105	0.80[YRI][hapmap]
rs140151	0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs17643918	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1807509	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193473	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs193481	0.81[EUR][1000 genomes]
rs2017677	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051764	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105870	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2349225	0.80[YRI][hapmap]
rs2412960	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2412963	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28257	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34862234	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35705048	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36578	0.80[YRI][hapmap]
rs36580	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36590	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36591	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36594	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36596	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36598	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36600	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36601	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36604	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36605	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36606	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36607	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788423	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3887275	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3958025	0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39712	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41162	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs41175	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41179	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4239932	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820820	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820822	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4823055	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4823063	1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4993442	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752968	0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs5752986	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752988	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752993	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763630	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763634	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763644	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763674	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763675	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763680	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5763689	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715523	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286070	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7292615	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737904	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs737909	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737912	0.84[EUR][1000 genomes]
rs8136147	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8139994	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8141404	1.00[YRI][hapmap]
rs9620926	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625873	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625874	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625879	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
12	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
13	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
14	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:30294800-30301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr22:30294800-30302000	Weak transcription	Right Ventricle	heart
20	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
22	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine
27	chr22:30297800-30302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:30297800-30303000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:30297800-30303000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:30297800-30303400	Weak transcription	Adipose Nuclei	Adipose
31	chr22:30298000-30302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30298000-30302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:30298000-30303400	Weak transcription	Brain Substantia Nigra	brain
34	chr22:30298000-30303400	Weak transcription	Fetal Lung	lung
35	chr22:30298000-30303600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:30298000-30303600	Weak transcription	NHLF	lung
37	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr22:30298200-30303400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:30298200-30304000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr22:30298800-30303800	Weak transcription	Primary B cells from cord blood	blood
41	chr22:30299000-30300800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:30299000-30303000	Weak transcription	Osteobl	bone
43	chr22:30299000-30303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:30299000-30303600	Weak transcription	Brain Germinal Matrix	brain
45	chr22:30299400-30300800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30299400-30301400	Enhancers	Left Ventricle	heart
47	chr22:30299600-30302000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:30299800-30300600	Enhancers	Brain Anterior Caudate	brain
49	chr22:30299800-30300600	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:30299800-30300800	Enhancers	Cortex derived primary cultured neurospheres	brain

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