Variant report

Variant	rs6998210
Chromosome Location	chr8:59538250-59538251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087843	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10088541	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10090212	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10090837	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091952	0.98[ASN][1000 genomes]
rs10112330	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10113830	0.98[ASN][1000 genomes]
rs10957063	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774998	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11985566	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994921	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352496	0.99[ASN][1000 genomes]
rs1387222	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16923637	0.88[ASN][1000 genomes]
rs17206746	0.98[ASN][1000 genomes]
rs17272151	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2130072	0.87[ASN][1000 genomes]
rs2326129	0.87[EUR][1000 genomes]
rs28429099	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28489122	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28755983	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28886919	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4266636	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4598239	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60567264	0.89[ASN][1000 genomes]
rs6471732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006937	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011066	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72647451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825739	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833791	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	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	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:119 , 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	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
3	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
4	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:59507600-59545400	Weak transcription	Gastric	stomach
6	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
9	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
10	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
13	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:59510200-59542400	Weak transcription	Lung	lung
15	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
18	chr8:59512000-59542200	Weak transcription	Right Ventricle	heart
19	chr8:59512200-59542200	Weak transcription	NH-A	brain
20	chr8:59512400-59540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:59513000-59541600	Weak transcription	Brain Germinal Matrix	brain
22	chr8:59513000-59542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:59520200-59542200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:59520600-59541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:59520600-59554600	Weak transcription	HMEC	breast
27	chr8:59521000-59542800	Weak transcription	Hela-S3	cervix
28	chr8:59521800-59542200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:59521800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:59521800-59542400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:59522200-59538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:59522200-59541400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:59522200-59542400	Weak transcription	HUVEC	blood vessel
35	chr8:59522200-59542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:59522200-59545200	Weak transcription	Spleen	Spleen
37	chr8:59522400-59541800	Weak transcription	NHLF	lung
38	chr8:59524000-59542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:59524200-59554400	Weak transcription	NHEK	skin
40	chr8:59525200-59542200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:59525400-59541000	Weak transcription	HepG2	liver
42	chr8:59526600-59542400	Weak transcription	Fetal Heart	heart
43	chr8:59527200-59542200	Weak transcription	Brain Angular Gyrus	brain
44	chr8:59527400-59542200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:59529200-59542600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:59529600-59543000	Weak transcription	HSMM	muscle
48	chr8:59531800-59542200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:59532000-59543800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:59532000-59545600	Weak transcription	NHDF-Ad	bronchial

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