Variant report

Variant	rs334066
Chromosome Location	chr2:179003272-179003273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179001004-179003397	K562	blood:	n/a	n/a
2	POLR2A	chr2:179001969-179003414	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178998158..179000091-chr2:179001062..179003808,2	K562	blood:
2	chr2:178993079..178995697-chr2:179002423..179004658,2	K562	blood:

Variant related genes	Relation type
RNU5E-9P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10205232	0.97[ASN][1000 genomes]
rs10497476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866101	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1898010	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1982130	0.97[ASN][1000 genomes]
rs334063	0.94[ASN][1000 genomes]
rs334070	1.00[ASN][1000 genomes]
rs334072	1.00[ASN][1000 genomes]
rs334074	1.00[ASN][1000 genomes]
rs4499456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs6433712	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap]
rs6433713	1.00[JPT][hapmap]
rs6753754	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334066	OSBPL6	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
2	chr2:178978000-179016400	Weak transcription	Gastric	stomach
3	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
4	chr2:178978800-179004000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:178979000-179005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:178987200-179005800	Weak transcription	Psoas Muscle	Psoas
7	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
8	chr2:178990200-179007000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:178990800-179003800	Weak transcription	GM12878-XiMat	blood
10	chr2:178991000-179009600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:178991200-179007400	Weak transcription	Osteobl	bone
12	chr2:178991800-179003600	Weak transcription	Left Ventricle	heart
13	chr2:178992400-179007800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178993200-179016800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:178994400-179003600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:178994400-179007200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:178994400-179007200	Weak transcription	HSMMtube	muscle
18	chr2:178994600-179004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:178994600-179004200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:178994600-179005800	Weak transcription	Liver	Liver
21	chr2:178994600-179007000	Weak transcription	Fetal Kidney	kidney
22	chr2:178995400-179003400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:178995800-179003600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:178997800-179006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:178997800-179008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:178999600-179004200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:178999800-179003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:179000200-179003800	Weak transcription	Dnd41	blood
29	chr2:179000200-179006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:179000200-179007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:179000400-179003600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:179000400-179004000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:179000400-179005600	Weak transcription	A549	lung
34	chr2:179000400-179007200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:179000600-179004800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:179001400-179003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:179001400-179003600	Weak transcription	Fetal Thymus	thymus
38	chr2:179001400-179005000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:179001600-179003600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:179001600-179003800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:179001600-179003800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:179001600-179004000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:179001600-179007200	Weak transcription	HSMM	muscle
44	chr2:179001800-179004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:179002200-179003800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:179002200-179004800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:179002200-179007200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:179002400-179004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:179002400-179005200	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:179002400-179007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links