Variant report

Variant	rs4149459
Chromosome Location	chr7:65709867-65709868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65705536..65707290-chr7:65707942..65710882,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11560207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs11561738	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2859839	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3823606	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4149458	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4149462	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4149464	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4149465	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4149466	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57737362	0.83[AMR][1000 genomes]
rs58600265	0.83[AMR][1000 genomes]
rs58976916	0.83[AMR][1000 genomes]
rs73372693	0.83[AMR][1000 genomes]
rs9638231	0.83[AMR][1000 genomes]
rs9638481	0.83[AMR][1000 genomes]
rs9647880	1.00[AMR][1000 genomes];0.93[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	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
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4149459	VKORC1L1	cis	lymphoblastoid	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:65699000-65712400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:65701600-65729200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:65702200-65711200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:65702400-65723600	Weak transcription	Gastric	stomach
9	chr7:65703000-65715800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:65703800-65716600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:65704000-65712800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:65704000-65726800	Weak transcription	HSMM	muscle
13	chr7:65704200-65711400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:65704200-65711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:65704200-65715200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:65704200-65729200	Weak transcription	Aorta	Aorta
17	chr7:65704200-65731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:65704400-65710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:65704400-65720200	Weak transcription	HSMMtube	muscle
20	chr7:65704400-65721800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:65704400-65746800	Weak transcription	Pancreas	Pancrea
22	chr7:65704600-65710400	Weak transcription	Fetal Lung	lung
23	chr7:65704600-65716200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:65704800-65720200	Weak transcription	NHLF	lung
25	chr7:65705800-65711200	Weak transcription	Lung	lung
26	chr7:65705800-65712400	Weak transcription	HMEC	breast
27	chr7:65705800-65716400	Weak transcription	Esophagus	oesophagus
28	chr7:65705800-65729200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:65706000-65711000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:65706000-65712000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:65706000-65712200	Weak transcription	HepG2	liver
32	chr7:65706000-65716800	Weak transcription	Fetal Stomach	stomach
33	chr7:65706000-65720200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:65706200-65712200	Weak transcription	Left Ventricle	heart
35	chr7:65706200-65715200	Weak transcription	NHEK	skin
36	chr7:65706200-65720200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:65706400-65712000	Weak transcription	Osteobl	bone
38	chr7:65706400-65712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:65706400-65715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:65706400-65720200	Weak transcription	NHDF-Ad	bronchial
41	chr7:65706800-65712000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:65706800-65712600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:65706800-65714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:65707000-65711200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:65707000-65721200	Weak transcription	Fetal Kidney	kidney
46	chr7:65707200-65713800	Weak transcription	Liver	Liver
47	chr7:65707600-65712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:65707800-65711000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:65708400-65711600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:65708400-65718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links