Variant report

Variant	rs7211094
Chromosome Location	chr17:20923750-20923751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1038109	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs1044410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1044414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1044420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap]
rs11204326	0.91[ASW][hapmap];0.86[YRI][hapmap]
rs1993901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2009756	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2291036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2291037	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs2364327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2364328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs2364332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2364333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3612	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs3816664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs3943299	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs4985820	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4985935	0.82[JPT][hapmap]
rs4985941	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs4985948	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs4985953	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs4985955	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs4985962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4985974	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs5005801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6587109	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6587115	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7215369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7216145	0.85[YRI][hapmap]
rs7216449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7218112	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap]
rs7219244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7223388	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs7226229	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8064435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs8071311	0.80[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs8075790	0.86[JPT][hapmap]
rs880652	0.86[JPT][hapmap]
rs899335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs899342	0.95[CEU][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap]
rs9797279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs9895047	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9896259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs9896301	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9898265	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs996065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]

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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7211094	SLC5A10	cis	parietal	SCAN
rs7211094	USP22	cis	Whole Blood	GTEx
rs7211094	FAM27L	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
2	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
3	chr17:20900800-20925600	Strong transcription	Fetal Brain Female	brain
4	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
5	chr17:20901400-20925200	Strong transcription	Fetal Lung	lung
6	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
7	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:20901800-20929400	Strong transcription	GM12878-XiMat	blood
9	chr17:20901800-20932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr17:20901800-20932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:20901800-20932400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:20902000-20925200	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr17:20902000-20932600	Strong transcription	Fetal Intestine Large	intestine
15	chr17:20902000-20935400	Strong transcription	Dnd41	blood
16	chr17:20902200-20925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:20902200-20932400	Strong transcription	Fetal Thymus	thymus
18	chr17:20902200-20932600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:20902400-20927000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:20902400-20931600	Strong transcription	HMEC	breast
21	chr17:20902400-20932200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr17:20902400-20932200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:20902400-20932600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr17:20902600-20924200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:20902600-20925400	Strong transcription	NHEK	skin
26	chr17:20902600-20932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:20902600-20932200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:20902600-20932400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:20902600-20932800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:20902800-20925200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:20902800-20925200	Strong transcription	Colonic Mucosa	Colon
32	chr17:20903200-20925200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:20903200-20932000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr17:20903400-20932000	Strong transcription	Liver	Liver
35	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:20903600-20938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:20903800-20924000	Strong transcription	Lung	lung
38	chr17:20903800-20925000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:20904000-20928200	Strong transcription	A549	lung
40	chr17:20904000-20931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:20904200-20926600	Strong transcription	Primary T cells from cord blood	blood
42	chr17:20904600-20925200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:20904600-20925200	Strong transcription	NH-A	brain
44	chr17:20904800-20924800	Strong transcription	Fetal Kidney	kidney
45	chr17:20905000-20923800	Strong transcription	Pancreas	Pancrea
46	chr17:20905000-20925200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:20905000-20933000	Strong transcription	Hela-S3	cervix
48	chr17:20905200-20926600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:20905400-20925200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr17:20905400-20931800	Strong transcription	Rectal Mucosa Donor 29	rectum

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