Variant report

Variant	rs8068720
Chromosome Location	chr17:20214171-20214172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1009082	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs10438824	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11654025	1.00[CEU][hapmap]
rs11870147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11871827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12947950	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs12949485	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1373147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1544421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1561974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17686622	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17686798	1.00[CEU][hapmap]
rs17686839	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17759923	0.87[CEU][hapmap]
rs17759959	1.00[CEU][hapmap]
rs1812934	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1992562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2013441	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2013576	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2034109	1.00[CEU][hapmap]
rs2058971	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2107566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2120282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2158473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2165897	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2189710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2263175	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2386485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526467	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526468	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2526469	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2526471	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2526474	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2526490	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs2526491	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2703772	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2703773	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2703774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703799	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2703801	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703808	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703813	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2703815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2703821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs34089239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs3850783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs3850784	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3850785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4588033	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs4924808	1.00[CEU][hapmap]
rs4924809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4924810	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6587064	0.82[CEU][hapmap]
rs7207611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7207817	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs8070401	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs8071665	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs8079701	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs8080827	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9325894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9896221	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9896709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9897328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9904928	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9905493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8068720	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
2	chr17:20201000-20220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:20204400-20216800	Weak transcription	Gastric	stomach
4	chr17:20210800-20223800	Weak transcription	Colonic Mucosa	Colon
5	chr17:20210800-20223800	Weak transcription	Esophagus	oesophagus
6	chr17:20211000-20215800	Weak transcription	Brain Angular Gyrus	brain
7	chr17:20211000-20215800	Weak transcription	Brain Substantia Nigra	brain
8	chr17:20211000-20216000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:20211000-20216600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:20211000-20216600	Weak transcription	Aorta	Aorta
11	chr17:20211000-20216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:20211000-20216800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:20211000-20217000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:20211000-20217000	Weak transcription	NHEK	skin
15	chr17:20211000-20217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:20211000-20217200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:20211000-20218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:20211000-20218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:20211000-20219600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:20211000-20223000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:20211000-20223800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:20211000-20223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:20211000-20224000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:20211000-20224000	Weak transcription	HMEC	breast
25	chr17:20211200-20214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:20211200-20215800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:20211200-20216000	Weak transcription	GM12878-XiMat	blood
28	chr17:20211200-20216000	Weak transcription	NH-A	brain
29	chr17:20211200-20217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:20211200-20217200	Weak transcription	Fetal Brain Female	brain
31	chr17:20211200-20221600	Weak transcription	Small Intestine	intestine
32	chr17:20211200-20223800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:20211200-20224000	Weak transcription	Fetal Intestine Large	intestine
34	chr17:20211400-20220800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:20211400-20224000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:20211600-20217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:20211600-20218000	Weak transcription	Fetal Intestine Small	intestine
38	chr17:20211600-20221800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:20211600-20224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:20212200-20216600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:20212200-20222000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:20212400-20219800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr17:20212600-20216600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:20212600-20217000	Weak transcription	Osteobl	bone
45	chr17:20212800-20215800	Weak transcription	Brain Anterior Caudate	brain
46	chr17:20212800-20218400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:20213000-20214600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:20213000-20216000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:20213000-20217200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:20213000-20217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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