Variant report

Variant	rs210606
Chromosome Location	chr7:69234928-69234929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1014417	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10237145	0.82[EUR][1000 genomes]
rs10245786	0.88[ASN][1000 genomes]
rs10257549	0.81[ASN][1000 genomes]
rs10259748	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10452738	0.81[ASN][1000 genomes]
rs11508453	0.85[ASN][1000 genomes]
rs11763186	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11974201	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11978431	0.81[ASN][1000 genomes]
rs11983891	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12333974	0.88[ASN][1000 genomes]
rs12671695	0.80[AMR][1000 genomes]
rs12698813	0.81[ASN][1000 genomes]
rs12698816	0.86[ASN][1000 genomes]
rs12698825	0.82[ASN][1000 genomes]
rs12698830	0.81[ASN][1000 genomes]
rs13226538	0.81[ASN][1000 genomes]
rs17140933	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17140980	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17140982	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1860488	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985165	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098116	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs210591	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210593	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210594	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210596	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210598	0.82[EUR][1000 genomes]
rs210599	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs210601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs210603	0.82[EUR][1000 genomes]
rs210604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2533426	0.82[AMR][1000 genomes]
rs2533427	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533428	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533429	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533430	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2533431	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533433	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533435	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533441	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533442	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533444	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533448	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533449	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2533451	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2533452	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2533454	0.82[AMR][1000 genomes]
rs2533455	0.82[AMR][1000 genomes]
rs2533457	0.81[AMR][1000 genomes]
rs2533458	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851483	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851484	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851487	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851489	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851490	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851491	0.83[AMR][1000 genomes]
rs2851492	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851496	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2851497	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851498	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851501	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851503	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851505	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851506	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851507	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851508	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851510	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851511	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851513	0.82[AMR][1000 genomes]
rs2851514	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851515	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851516	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2865805	0.85[ASN][1000 genomes]
rs28770244	0.81[ASN][1000 genomes]
rs34221396	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35696945	0.81[ASN][1000 genomes]
rs3886905	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4717520	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718906	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs5005279	0.96[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs505949	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs513150	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs532820	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs547630	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55990156	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56302473	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565505	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576193	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576293	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs585282	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs589983	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590609	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs593063	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595681	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60359704	0.81[ASN][1000 genomes]
rs610930	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61135042	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs626767	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs627981	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645245	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6460523	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6460532	0.81[ASN][1000 genomes]
rs646233	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs649200	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6951921	0.81[ASN][1000 genomes]
rs6957302	0.81[EUR][1000 genomes]
rs6961164	0.83[ASN][1000 genomes]
rs6963882	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6966036	0.85[ASN][1000 genomes]
rs6974900	0.80[AMR][1000 genomes]
rs6978134	0.87[ASN][1000 genomes]
rs6979355	0.85[ASN][1000 genomes]
rs726372	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7779010	0.88[ASN][1000 genomes]
rs7786073	0.88[ASN][1000 genomes]
rs7796973	0.86[ASN][1000 genomes]
rs7797340	0.81[ASN][1000 genomes]
rs7801117	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7809145	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809934	0.83[ASN][1000 genomes]
rs877687	0.85[ASN][1000 genomes]
rs9332399	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs210606	VKORC1L1	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:69225200-69238800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69227200-69237000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:69229800-69235400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:69229800-69235600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:69229800-69238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69230200-69235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:69230200-69236000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:69230400-69237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:69231000-69237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:69232400-69237400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:69233600-69235000	Enhancers	Adipose Nuclei	Adipose
13	chr7:69233600-69235000	Enhancers	Brain Substantia Nigra	brain
14	chr7:69233600-69235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:69233600-69240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:69233800-69235000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:69233800-69235000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:69233800-69235200	Enhancers	Fetal Lung	lung
19	chr7:69233800-69235800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:69233800-69236200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:69233800-69236200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:69234000-69235600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:69234000-69235800	Enhancers	Brain Germinal Matrix	brain
24	chr7:69234000-69238600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:69234000-69238800	Weak transcription	Left Ventricle	heart
26	chr7:69234200-69235000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:69234200-69235600	Enhancers	Fetal Heart	heart
28	chr7:69234200-69238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:69234400-69235800	Enhancers	GM12878-XiMat	blood
30	chr7:69234400-69236200	Enhancers	Fetal Stomach	stomach
31	chr7:69234600-69237400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:69234600-69238400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:69234800-69236200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:69234800-69236400	Weak transcription	Ovary	ovary
35	chr7:69234800-69238000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:69234800-69238600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:69234800-69238600	Weak transcription	Pancreas	Pancrea
38	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain

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