Variant report

Variant	rs664796
Chromosome Location	chr8:61536203-61536204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61536011..61537750-chr8:61564924..61566806,2	K562	blood:
2	chr8:61527789..61530559-chr8:61535884..61538190,2	K562	blood:
3	chr8:61536123..61537975-chr8:61580798..61583756,2	K562	blood:
4	chr8:61535766..61537350-chr8:61537697..61540249,2	K562	blood:
5	chr8:61525175..61527465-chr8:61536083..61538610,2	K562	blood:
6	chr8:61534210..61537266-chr8:61537564..61540249,3	K562	blood:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10091703	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10100740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101576	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10101714	0.88[ASN][1000 genomes]
rs10103438	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110436	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1014860	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435602	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957136	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10957137	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957138	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957140	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10957141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957143	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774500	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778708	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782463	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784284	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680436	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681841	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266707	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13267765	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267828	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13269925	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1480342	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2326557	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2625445	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28495747	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542403	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28678079	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2875966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234629	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34523017	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775344	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35837434	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35853087	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592014	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610455	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621279	0.89[CEU][hapmap]
rs624407	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6471884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs649634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66983460	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs669960	0.89[CEU][hapmap]
rs671275	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs677467	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6993237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998294	0.88[ASN][1000 genomes]
rs7357376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462738	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812421	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7820349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832664	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643524	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs664796	RAB2	cis	lesional skin	skin_eQTL
rs664796	RAB2	cis	normal skin	skin_eQTL
rs664796	RAB2	cis	uninvolved skin	skin_eQTL
rs664796	RAB2A	cis	Heart Left Ventricle	GTEx
rs664796	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
4	chr8:61518200-61537200	Weak transcription	Gastric	stomach
5	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
6	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
8	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
13	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:61524200-61538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:61529200-61538200	Strong transcription	Primary B cells from cord blood	blood
16	chr8:61532600-61537200	Weak transcription	Fetal Heart	heart
17	chr8:61532600-61537200	Weak transcription	Ovary	ovary
18	chr8:61532600-61537600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:61532600-61537600	Weak transcription	Small Intestine	intestine
20	chr8:61532600-61538000	Weak transcription	Fetal Kidney	kidney
21	chr8:61532600-61539200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:61532800-61536400	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:61532800-61537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:61532800-61537600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:61532800-61537600	Weak transcription	Fetal Lung	lung
27	chr8:61532800-61538200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:61532800-61538200	Weak transcription	Brain Anterior Caudate	brain
29	chr8:61533400-61536400	Strong transcription	NHDF-Ad	bronchial
30	chr8:61533400-61536800	Weak transcription	HepG2	liver
31	chr8:61533400-61538200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:61533400-61538200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:61533400-61538400	Weak transcription	Fetal Stomach	stomach
34	chr8:61533400-61538600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:61533600-61538400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:61534000-61537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:61534000-61539600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:61534200-61536400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:61534200-61537400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:61534200-61537800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:61534200-61537800	Weak transcription	NH-A	brain
42	chr8:61534200-61538000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:61534200-61538200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:61534200-61538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:61534200-61540600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:61534400-61537600	Weak transcription	NHEK	skin
47	chr8:61534600-61537200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:61535000-61537200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:61535000-61538000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:61535000-61538200	Weak transcription	Fetal Muscle Trunk	muscle

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