Variant report

Variant	rs2634534
Chromosome Location	chr8:59527038-59527039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10085973	0.81[JPT][hapmap]
rs10090425	0.81[JPT][hapmap]
rs10099153	0.81[JPT][hapmap]
rs10099912	0.85[JPT][hapmap]
rs10104292	0.80[JPT][hapmap]
rs10111052	0.81[JPT][hapmap]
rs10111180	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs10504256	0.81[JPT][hapmap]
rs11783174	0.81[JPT][hapmap]
rs12334684	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12674724	0.84[ASN][1000 genomes]
rs12676593	0.81[JPT][hapmap]
rs12677290	0.80[JPT][hapmap]
rs16923594	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2255834	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279460	0.90[JPT][hapmap]
rs2279462	0.90[JPT][hapmap]
rs2326129	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2634488	0.92[ASN][1000 genomes]
rs2634527	0.81[JPT][hapmap]
rs2634530	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2634531	0.96[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2680897	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2680899	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2680901	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28819228	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2946578	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4282557	0.81[JPT][hapmap]
rs4400367	0.81[JPT][hapmap]
rs4579515	0.85[JPT][hapmap]
rs4737504	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6985007	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6985643	0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs6987187	0.86[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6991020	0.82[ASN][1000 genomes]
rs6995115	0.81[JPT][hapmap]
rs7011095	0.81[JPT][hapmap]
rs7820921	0.92[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7825996	0.81[JPT][hapmap]
rs7827910	0.81[JPT][hapmap]
rs7836960	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7844231	0.91[JPT][hapmap]
rs901954	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297997	0.80[JPT][hapmap]
rs9297998	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59483800-59528000	Strong transcription	Dnd41	blood
3	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
4	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
6	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:59507600-59545400	Weak transcription	Gastric	stomach
8	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
11	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
12	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
13	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:59510200-59527200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:59510200-59542400	Weak transcription	Lung	lung
19	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
22	chr8:59512000-59542200	Weak transcription	Right Ventricle	heart
23	chr8:59512200-59542200	Weak transcription	NH-A	brain
24	chr8:59512400-59540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:59512800-59534600	Weak transcription	Placenta	Placenta
26	chr8:59513000-59533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:59513000-59541600	Weak transcription	Brain Germinal Matrix	brain
28	chr8:59513000-59542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:59516000-59535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:59519800-59527200	Strong transcription	Primary T cells from cord blood	blood
32	chr8:59520200-59535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:59520200-59542200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:59520400-59533800	Weak transcription	Liver	Liver
35	chr8:59520400-59534600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:59520600-59535400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:59520600-59541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:59520600-59554600	Weak transcription	HMEC	breast
39	chr8:59520800-59535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:59521000-59542800	Weak transcription	Hela-S3	cervix
41	chr8:59521200-59533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:59521400-59533400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:59521400-59533600	Weak transcription	Fetal Lung	lung
44	chr8:59521800-59531600	Weak transcription	Osteobl	bone
45	chr8:59521800-59535400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:59521800-59542200	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:59521800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:59521800-59542400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:59522200-59528600	Weak transcription	NHDF-Ad	bronchial

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