Variant report

Variant	rs62525885
Chromosome Location	chr8:131222581-131222582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131216012..131218539-chr8:131221630..131223240,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10505548	0.86[ASN][1000 genomes]
rs10505549	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956513	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956515	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956517	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11781752	0.96[ASN][1000 genomes]
rs11786705	0.86[AFR][1000 genomes]
rs12541083	0.81[AFR][1000 genomes]
rs12542411	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12545910	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547397	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12547540	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675390	0.97[ASN][1000 genomes]
rs12675543	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12676836	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12679283	0.87[AFR][1000 genomes]
rs12681954	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12681955	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1469286	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549455	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16893271	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904204	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904208	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904212	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904219	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904223	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904231	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904239	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16904241	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16904249	0.86[AFR][1000 genomes]
rs1960661	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974313	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027377	0.87[AFR][1000 genomes]
rs2305511	0.91[ASN][1000 genomes]
rs36004574	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812476	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4733569	0.82[ASN][1000 genomes]
rs4733573	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4733771	0.91[AFR][1000 genomes]
rs4733772	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733782	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4733788	0.87[AFR][1000 genomes]
rs55759245	0.88[ASN][1000 genomes]
rs55993168	0.89[ASN][1000 genomes]
rs57198371	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59297824	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62524627	0.80[ASN][1000 genomes]
rs62524628	0.81[ASN][1000 genomes]
rs62524632	0.89[ASN][1000 genomes]
rs62524635	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62524643	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62524644	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62524647	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62524649	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62525884	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62525888	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525889	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525921	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525922	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525927	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525928	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6415513	0.81[AFR][1000 genomes]
rs6470814	0.82[AFR][1000 genomes]
rs6991714	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996106	0.82[ASN][1000 genomes]
rs6996469	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7006336	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs716077	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72722330	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72722366	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722371	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72724420	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72724433	0.82[AFR][1000 genomes]
rs7462286	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs754021	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
2	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
3	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
5	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
7	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
8	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
10	chr8:131210000-131250400	Weak transcription	Gastric	stomach
11	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
12	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
14	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
15	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
16	chr8:131213600-131224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
18	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:131214200-131224600	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:131214600-131238200	Weak transcription	Ovary	ovary
25	chr8:131215800-131224800	Weak transcription	Lung	lung
26	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
27	chr8:131216800-131224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:131217000-131224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:131217000-131225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131217200-131224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:131217400-131225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:131218800-131224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
39	chr8:131219200-131223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:131219200-131224200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:131219200-131224600	Weak transcription	HepG2	liver
42	chr8:131219200-131232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:131219200-131236000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:131219200-131238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
46	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:131219800-131225000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:131219800-131226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:131219800-131235400	Weak transcription	Fetal Intestine Large	intestine
50	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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