Variant report

Variant	rs17140933
Chromosome Location	chr7:69291722-69291723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1008379	0.81[EUR][1000 genomes]
rs1014417	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10245786	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10257549	0.87[ASN][1000 genomes]
rs10259748	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10452738	0.87[ASN][1000 genomes]
rs11508453	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11761141	0.82[AMR][1000 genomes]
rs11763186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11767997	0.83[ASN][1000 genomes]
rs11974201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11978431	0.87[ASN][1000 genomes]
rs12333974	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698813	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12698816	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698822	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12698825	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698830	0.87[ASN][1000 genomes]
rs13226538	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13237811	0.85[ASN][1000 genomes]
rs17140980	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17140982	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17353815	0.81[EUR][1000 genomes]
rs17458097	0.80[EUR][1000 genomes]
rs1860488	0.87[ASN][1000 genomes]
rs1985165	0.83[ASN][1000 genomes]
rs210591	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210593	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210594	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs210596	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210599	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs210601	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210604	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210606	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533427	0.86[ASN][1000 genomes]
rs2533428	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2533429	0.86[ASN][1000 genomes]
rs2533430	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2533431	0.87[ASN][1000 genomes]
rs2533433	0.87[ASN][1000 genomes]
rs2533435	0.82[ASN][1000 genomes]
rs2533449	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2533458	0.87[ASN][1000 genomes]
rs2851483	0.86[ASN][1000 genomes]
rs2851484	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2851487	0.87[ASN][1000 genomes]
rs2851514	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2851515	0.86[ASN][1000 genomes]
rs2851516	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2865805	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28770244	0.87[ASN][1000 genomes]
rs34221396	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34617709	0.81[AFR][1000 genomes]
rs35696945	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4717520	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718906	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs505949	0.87[ASN][1000 genomes]
rs513150	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs532820	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs547630	0.87[ASN][1000 genomes]
rs55990156	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs565505	0.87[ASN][1000 genomes]
rs576193	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs576293	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs585282	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs589983	0.89[ASN][1000 genomes]
rs590609	0.91[ASN][1000 genomes]
rs593063	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs595681	0.94[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.80[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs60359704	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60739014	0.81[EUR][1000 genomes]
rs610930	0.94[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.80[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs626767	0.87[ASN][1000 genomes]
rs627981	0.87[ASN][1000 genomes]
rs645245	0.87[ASN][1000 genomes]
rs6460532	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs646233	0.86[ASN][1000 genomes]
rs649200	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6943309	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6949651	0.82[ASN][1000 genomes]
rs6950485	0.83[ASN][1000 genomes]
rs6951921	0.87[ASN][1000 genomes]
rs6955261	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958981	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6961164	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6963882	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966036	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6978134	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979355	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6980307	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs726372	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs763759	0.81[EUR][1000 genomes]
rs7779010	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781403	0.80[EUR][1000 genomes]
rs7786073	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7791101	0.82[ASN][1000 genomes]
rs7794623	0.81[ASN][1000 genomes]
rs7795152	0.86[ASN][1000 genomes]
rs7796973	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7797340	0.87[ASN][1000 genomes]
rs7801117	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];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808773	0.81[EUR][1000 genomes]
rs7809145	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809934	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs877687	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9332399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17140933	VKORC1L1	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69283400-69291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:69283400-69292600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:69284600-69297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:69285000-69295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:69288200-69304800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:69288600-69292000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:69288600-69304800	Weak transcription	Ovary	ovary
8	chr7:69289000-69293400	Enhancers	Fetal Thymus	thymus
9	chr7:69289200-69293400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:69289600-69292400	Enhancers	Colon Smooth Muscle	Colon
11	chr7:69289600-69293200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:69289600-69293400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:69289800-69293200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:69289800-69293600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:69290000-69292600	Weak transcription	Primary T cells from cord blood	blood
16	chr7:69290000-69293000	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:69290000-69293400	Enhancers	Thymus	Thymus
18	chr7:69290400-69292200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:69290400-69292200	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:69290400-69292400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:69290400-69293600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:69290400-69302400	Weak transcription	Fetal Stomach	stomach
23	chr7:69290600-69292000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:69290600-69292000	Weak transcription	Fetal Heart	heart
25	chr7:69290600-69292800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:69290600-69293600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:69290800-69292000	Weak transcription	Right Atrium	heart
28	chr7:69290800-69292800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:69290800-69293600	Enhancers	Primary B cells from cord blood	blood
30	chr7:69290800-69293600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:69290800-69294000	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:69290800-69295800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:69290800-69295800	Weak transcription	Brain Substantia Nigra	brain
34	chr7:69291000-69292200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:69291000-69292600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:69291000-69295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:69291000-69299400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:69291200-69292600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:69291200-69293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:69291200-69293600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:69291200-69297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:69291200-69299000	Weak transcription	Fetal Brain Female	brain
43	chr7:69291400-69291800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:69291400-69291800	Weak transcription	Dnd41	blood
45	chr7:69291400-69292200	Enhancers	Left Ventricle	heart
46	chr7:69291400-69293200	Enhancers	Fetal Lung	lung
47	chr7:69291600-69291800	Enhancers	Fetal Kidney	kidney
48	chr7:69291600-69295600	Weak transcription	Brain Germinal Matrix	brain

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