Variant report

Variant	rs7821738
Chromosome Location	chr8:61497559-61497560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10100740	0.83[YRI][hapmap]
rs10957139	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957141	0.86[YRI][hapmap]
rs11774286	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778115	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778315	0.83[EUR][1000 genomes]
rs11778529	0.83[YRI][hapmap]
rs11778888	0.83[YRI][hapmap]
rs11786146	0.83[YRI][hapmap]
rs11787141	0.94[EUR][1000 genomes]
rs13278228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170677	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];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2875966	0.83[YRI][hapmap]
rs59359269	0.83[EUR][1000 genomes]
rs603239	0.86[YRI][hapmap]
rs610455	0.86[YRI][hapmap]
rs649634	0.81[YRI][hapmap]
rs685715	0.96[EUR][1000 genomes]
rs6987523	0.83[YRI][hapmap]
rs6991529	0.83[YRI][hapmap]
rs6995153	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs6996344	0.81[YRI][hapmap]
rs7820349	0.83[YRI][hapmap]
rs7842105	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7821738	RAB2	cis	uninvolved skin	skin_eQTL
rs7821738	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs7821738	RAB2	cis	lesional skin	skin_eQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
3	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
4	chr8:61473600-61497800	Weak transcription	Lung	lung
5	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:61475400-61498200	Weak transcription	A549	lung
8	chr8:61476200-61504800	Weak transcription	NHLF	lung
9	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:61477400-61497600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:61481000-61497800	Weak transcription	Gastric	stomach
12	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
13	chr8:61481200-61504200	Weak transcription	HMEC	breast
14	chr8:61482800-61498000	Weak transcription	Aorta	Aorta
15	chr8:61482800-61504000	Weak transcription	HSMMtube	muscle
16	chr8:61482800-61505800	Weak transcription	Esophagus	oesophagus
17	chr8:61483000-61501200	Weak transcription	NHEK	skin
18	chr8:61483400-61505800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
20	chr8:61485400-61515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:61485800-61504400	Weak transcription	Small Intestine	intestine
22	chr8:61487000-61504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:61489400-61498200	Weak transcription	Right Atrium	heart
24	chr8:61489400-61506600	Weak transcription	Fetal Brain Female	brain
25	chr8:61489400-61514000	Weak transcription	Right Ventricle	heart
26	chr8:61489600-61497800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:61489600-61506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:61489600-61510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:61489800-61504800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:61491000-61505800	Weak transcription	Fetal Heart	heart
31	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:61493000-61498600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:61493000-61499800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:61493400-61501800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:61493600-61501400	Strong transcription	Placenta	Placenta
36	chr8:61493600-61502000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr8:61493600-61510400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:61493800-61499400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:61493800-61499600	Strong transcription	Fetal Muscle Leg	muscle
41	chr8:61493800-61504400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:61494000-61497600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:61494000-61502400	Strong transcription	Liver	Liver
44	chr8:61494400-61501400	Strong transcription	Fetal Thymus	thymus
45	chr8:61494600-61499200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:61494600-61499400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:61494600-61503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:61494800-61498800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:61495000-61497800	Enhancers	Brain Germinal Matrix	brain
50	chr8:61495000-61497800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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