Variant report

Variant	rs62524635
Chromosome Location	chr8:131123363-131123364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10505549	0.91[AFR][1000 genomes]
rs10956515	0.95[AFR][1000 genomes]
rs10956517	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11781752	0.86[ASN][1000 genomes]
rs12541938	0.84[ASN][1000 genomes]
rs12542411	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545910	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12546088	0.85[ASN][1000 genomes]
rs12546603	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547397	0.95[AFR][1000 genomes]
rs12547540	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12675390	0.86[ASN][1000 genomes]
rs12675543	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676836	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12679283	0.83[AFR][1000 genomes]
rs12681954	0.95[AFR][1000 genomes]
rs12681955	0.95[AFR][1000 genomes]
rs1469286	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1549455	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs16893271	0.95[AFR][1000 genomes]
rs16904197	0.82[ASN][1000 genomes]
rs16904199	0.82[ASN][1000 genomes]
rs16904204	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904208	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904212	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16904219	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16904223	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16904231	0.80[ASN][1000 genomes]
rs16904239	0.95[AFR][1000 genomes]
rs16904241	0.96[AFR][1000 genomes]
rs1960661	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2027377	0.83[AFR][1000 genomes]
rs2045091	0.82[ASN][1000 genomes]
rs2305511	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395989	0.84[ASN][1000 genomes]
rs36004574	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3812476	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733569	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733771	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4733772	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733782	0.95[AFR][1000 genomes]
rs55759245	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55796310	0.81[ASN][1000 genomes]
rs55993168	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56182202	0.82[ASN][1000 genomes]
rs57198371	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59297824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524627	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524628	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524629	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62524632	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62524643	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524644	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524647	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62524649	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525884	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62525885	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62525888	0.83[ASN][1000 genomes]
rs62525889	0.83[ASN][1000 genomes]
rs62525921	0.95[AFR][1000 genomes]
rs62525922	0.95[AFR][1000 genomes]
rs62525927	0.95[AFR][1000 genomes]
rs62525928	1.00[AFR][1000 genomes]
rs6991714	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6996106	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7006336	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716077	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722330	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722366	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72722371	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72724420	0.95[AFR][1000 genomes]
rs7462286	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754021	0.95[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	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:131105000-131123600	Weak transcription	Fetal Kidney	kidney
4	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
5	chr8:131109800-131123800	Weak transcription	Gastric	stomach
6	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:131114600-131137200	Strong transcription	A549	lung
10	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr8:131116800-131124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
20	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:131117400-131137200	Strong transcription	NHLF	lung
22	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
23	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr8:131118000-131125200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr8:131118000-131128600	Strong transcription	Fetal Stomach	stomach
26	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
29	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131118200-131129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:131118400-131125000	Strong transcription	HSMM	muscle
33	chr8:131118400-131129200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:131118400-131131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
36	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
38	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
40	chr8:131118800-131129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:131118800-131131400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
43	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:131119000-131130200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:131119000-131137400	Strong transcription	Osteobl	bone
46	chr8:131119200-131125200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:131119200-131125200	Strong transcription	NH-A	brain
48	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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