Variant report

Variant	rs210599
Chromosome Location	chr7:69238399-69238400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1014417	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10237145	0.82[EUR][1000 genomes]
rs10259748	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11763186	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11983891	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17140933	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140980	0.81[AFR][1000 genomes]
rs17140982	0.80[AFR][1000 genomes]
rs1860488	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1985165	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2098116	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs210591	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210593	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210594	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210596	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210598	0.82[EUR][1000 genomes]
rs210601	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210603	0.82[EUR][1000 genomes]
rs210604	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs210606	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2533426	0.81[AMR][1000 genomes]
rs2533427	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533428	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533429	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2533430	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2533431	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533433	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533435	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2533441	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533442	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533444	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533448	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2533449	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2533451	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2533452	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2533454	0.81[AMR][1000 genomes]
rs2533455	0.81[AMR][1000 genomes]
rs2533457	0.80[AMR][1000 genomes]
rs2533458	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851483	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851484	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851487	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851489	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851490	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851491	0.82[AMR][1000 genomes]
rs2851492	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851496	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2851497	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851498	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851501	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851503	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851505	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851506	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851507	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851508	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851510	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851511	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2851513	0.81[AMR][1000 genomes]
rs2851514	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851515	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851516	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34221396	0.82[EUR][1000 genomes]
rs3886905	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4717520	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718906	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs5005279	0.96[CEU][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs505949	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs513150	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs532820	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547630	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55990156	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56302473	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565505	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs576193	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs576293	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs585282	0.96[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs589983	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs590609	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs593063	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs595681	0.94[ASW][hapmap];0.96[CEU][hapmap];0.80[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs610930	0.94[ASW][hapmap];0.96[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61135042	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs626767	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs627981	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs645245	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6460523	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs646233	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs649200	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6957302	0.81[EUR][1000 genomes]
rs6963882	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6979355	0.80[AFR][1000 genomes]
rs726372	0.81[AFR][1000 genomes]
rs7801117	0.91[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7809145	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs877687	0.80[AFR][1000 genomes]
rs9332399	0.91[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[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
rs210599	VKORC1L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69225200-69238800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69229800-69238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69233600-69240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:69234000-69238600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:69234000-69238800	Weak transcription	Left Ventricle	heart
6	chr7:69234200-69238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:69234600-69238400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69234800-69238600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:69234800-69238600	Weak transcription	Pancreas	Pancrea
10	chr7:69234800-69245800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:69235000-69238600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:69235000-69238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:69235600-69238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:69235600-69238600	Weak transcription	Fetal Heart	heart
15	chr7:69235800-69242000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69236200-69242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:69236200-69243400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:69236400-69239200	Enhancers	Ovary	ovary
19	chr7:69236800-69238600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:69237000-69239200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:69237000-69239400	Enhancers	Adipose Nuclei	Adipose
22	chr7:69237200-69239200	Enhancers	A549	lung
23	chr7:69237200-69239200	Enhancers	NHEK	skin
24	chr7:69237400-69238400	Weak transcription	Right Atrium	heart
25	chr7:69237400-69239000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:69237400-69239200	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:69237400-69239400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:69237400-69240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:69237400-69246400	Weak transcription	Fetal Lung	lung
30	chr7:69237600-69239200	Enhancers	Fetal Stomach	stomach
31	chr7:69237800-69238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:69237800-69238800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:69237800-69239200	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:69237800-69246400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:69238000-69239200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:69238000-69241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:69238200-69238400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:69238200-69239000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:69238200-69239000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:69238200-69239000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:69238200-69239000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:69238200-69239000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:69238200-69239000	Enhancers	Brain Germinal Matrix	brain
44	chr7:69238200-69239000	Enhancers	Brain Substantia Nigra	brain
45	chr7:69238200-69239200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:69238200-69239200	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:69238200-69239200	Enhancers	Fetal Thymus	thymus
48	chr7:69238200-69239200	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links