Variant report

Variant	rs66510832
Chromosome Location	chr7:66242835-66242836
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12698551	0.83[ASN][1000 genomes]
rs13228779	0.83[ASN][1000 genomes]
rs13229468	0.86[ASN][1000 genomes]
rs13232393	0.83[ASN][1000 genomes]
rs13233569	0.80[ASN][1000 genomes]
rs13235282	0.84[ASN][1000 genomes]
rs13236129	0.94[ASN][1000 genomes]
rs13237544	0.95[ASN][1000 genomes]
rs13238478	0.83[ASN][1000 genomes]
rs13238612	0.83[ASN][1000 genomes]
rs13247442	0.93[EUR][1000 genomes]
rs1573944	0.96[ASN][1000 genomes]
rs1622330	0.83[EUR][1000 genomes]
rs1638736	0.88[EUR][1000 genomes]
rs1962049	0.86[EUR][1000 genomes]
rs2178742	0.80[ASN][1000 genomes]
rs34162778	0.94[ASN][1000 genomes]
rs34423980	0.83[ASN][1000 genomes]
rs34559676	0.94[ASN][1000 genomes]
rs34816289	0.80[ASN][1000 genomes]
rs35043782	0.80[ASN][1000 genomes]
rs35111158	0.82[ASN][1000 genomes]
rs35315599	0.95[ASN][1000 genomes]
rs35390465	0.81[ASN][1000 genomes]
rs35481333	0.90[ASN][1000 genomes]
rs35508430	0.84[ASN][1000 genomes]
rs35624856	0.95[ASN][1000 genomes]
rs35676956	0.96[ASN][1000 genomes]
rs35821254	0.83[ASN][1000 genomes]
rs35851021	0.95[ASN][1000 genomes]
rs36059333	0.83[ASN][1000 genomes]
rs4457208	0.83[ASN][1000 genomes]
rs55849324	0.84[ASN][1000 genomes]
rs55889925	0.83[ASN][1000 genomes]
rs56006261	0.86[ASN][1000 genomes]
rs56675463	0.96[ASN][1000 genomes]
rs59308022	0.84[ASN][1000 genomes]
rs60201031	0.88[ASN][1000 genomes]
rs67319329	0.83[ASN][1000 genomes]
rs71535635	0.81[ASN][1000 genomes]
rs71563136	0.94[ASN][1000 genomes]
rs869249	0.83[ASN][1000 genomes]
rs876743	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs66510832	VKORC1L1	cis	Whole Blood	GTEx
rs66510832	GUSB	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:66227000-66243000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:66231200-66246400	Weak transcription	Right Ventricle	heart
4	chr7:66231400-66255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:66234800-66243600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:66235200-66261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66235400-66255400	Weak transcription	Fetal Heart	heart
10	chr7:66236000-66259000	Strong transcription	NHDF-Ad	bronchial
11	chr7:66236600-66244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:66236800-66243400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:66236800-66243800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:66236800-66244800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:66236800-66245400	Strong transcription	GM12878-XiMat	blood
16	chr7:66236800-66247800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:66236800-66265200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:66236800-66276800	Strong transcription	Dnd41	blood
19	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:66237000-66243800	Strong transcription	Fetal Thymus	thymus
22	chr7:66237000-66244800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:66237000-66245000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:66237000-66245400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:66237200-66244000	Strong transcription	Placenta	Placenta
26	chr7:66237200-66262400	Weak transcription	Fetal Brain Male	brain
27	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:66238000-66243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:66238000-66246600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:66238000-66253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:66238200-66244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:66238200-66246600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:66238200-66247600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:66238200-66248800	Strong transcription	Primary B cells from cord blood	blood
35	chr7:66238200-66252800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:66238200-66252800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:66238400-66243000	Strong transcription	Left Ventricle	heart
39	chr7:66238400-66243800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:66238400-66245000	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:66238400-66247000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:66238400-66247800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:66238400-66248200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:66238400-66252800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr7:66238400-66252800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:66238600-66243400	Strong transcription	Brain Germinal Matrix	brain
47	chr7:66238600-66243600	Strong transcription	Primary T cells from cord blood	blood
48	chr7:66238600-66243600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr7:66238600-66244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:66238600-66244600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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