Variant report

Variant	rs337182
Chromosome Location	chr1:220906624-220906625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220904641..220907994-chr1:220920402..220922198,3	MCF-7	breast:
2	chr1:220469332..220470229-chr1:220906478..220907163,2	MCF-7	breast:
3	chr1:220853076..220854091-chr1:220906545..220907064,3	K562	blood:
4	chr1:220454114..220454784-chr1:220906119..220907075,3	K562	blood:
5	chr1:220863123..220864127-chr1:220906117..220907037,6	MCF-7	breast:
6	chr1:220906512..220907175-chr11:819099..819653,2	HCT-116	colon:
7	chr1:220718228..220719005-chr1:220906200..220906909,2	MCF-7	breast:
8	chr1:220454099..220454843-chr1:220906534..220907082,2	MCF-7	breast:
9	chr1:220905806..220908552-chr1:220910412..220912750,2	K562	blood:
10	chr1:220852892..220854538-chr1:220905833..220907061,7	MCF-7	breast:
11	chr1:220861749..220866307-chr1:220904102..220906861,4	MCF-7	breast:
12	chr1:220905522..220909256-chr1:220918149..220921942,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162817	Chromatin interaction
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11589296	0.85[EUR][1000 genomes]
rs12032280	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12407624	0.89[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs12563921	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12564479	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1472253	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1494373	0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs17008587	0.82[EUR][1000 genomes]
rs2275575	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs337156	0.81[AMR][1000 genomes]
rs337159	0.81[AMR][1000 genomes]
rs337162	0.81[AMR][1000 genomes]
rs337163	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs337165	0.81[AMR][1000 genomes]
rs337166	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337167	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337188	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs337192	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3753879	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs3806329	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41314538	0.85[EUR][1000 genomes]
rs4846658	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59423796	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61830238	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72629673	0.81[EUR][1000 genomes]
rs774139	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs337182	TGFB2	cis	cerebellum	SCAN
rs337182	MOSC2	cis	cerebellum	SCAN
rs337182	EPRS	cis	cerebellum	SCAN
rs337182	C1orf115	cis	cerebellum	SCAN
rs337182	MOSC1	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220903600-220907000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:220905600-220907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:220905600-220908600	Enhancers	NHLF	lung
4	chr1:220905800-220907000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:220905800-220908600	Enhancers	Placenta	Placenta
6	chr1:220906000-220906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:220906000-220906800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:220906000-220906800	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:220906000-220906800	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:220906000-220906800	Enhancers	Small Intestine	intestine
11	chr1:220906000-220906800	Active TSS	A549	lung
12	chr1:220906000-220906800	Enhancers	Dnd41	blood
13	chr1:220906000-220906800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:220906000-220907000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:220906000-220907000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:220906000-220907000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:220906000-220907000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:220906000-220907000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:220906000-220907000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:220906000-220907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:220906000-220907000	Enhancers	Fetal Heart	heart
22	chr1:220906000-220907000	Enhancers	Fetal Thymus	thymus
23	chr1:220906000-220907000	Enhancers	Ovary	ovary
24	chr1:220906000-220907000	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:220906000-220907000	Flanking Active TSS	Hela-S3	cervix
26	chr1:220906000-220907200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:220906000-220907400	Active TSS	Aorta	Aorta
28	chr1:220906000-220908400	Enhancers	HMEC	breast
29	chr1:220906000-220908400	Enhancers	NHEK	skin
30	chr1:220906000-220908600	Enhancers	Fetal Intestine Large	intestine
31	chr1:220906000-220908600	Enhancers	NHDF-Ad	bronchial
32	chr1:220906200-220906800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:220906200-220906800	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:220906200-220906800	Active TSS	Colon Smooth Muscle	Colon
35	chr1:220906200-220906800	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:220906200-220906800	Active TSS	NH-A	brain
37	chr1:220906200-220907000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:220906200-220907000	Enhancers	Primary B cells from cord blood	blood
39	chr1:220906200-220907000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:220906200-220907000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:220906200-220907000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:220906200-220907000	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:220906200-220907000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:220906200-220907200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:220906200-220907200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:220906200-220907400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:220906200-220907400	Weak transcription	Lung	lung
48	chr1:220906200-220908400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:220906200-220908600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:220906400-220906800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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