Variant report

Variant	rs17103186
Chromosome Location	chr1:47854514-47854515
allele	C/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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47853693..47855122-chr1:47889679..47890765,13	MCF-7	breast:
2	chr1:47854116..47855124-chr1:48191664..48192613,6	K562	blood:
3	chr1:47854429..47856200-chr1:47870226..47871822,2	K562	blood:
4	chr1:47850084..47851771-chr1:47852483..47854951,2	K562	blood:
5	chr1:47835984..47838590-chr1:47852987..47854829,2	K562	blood:
6	chr1:47854167..47855150-chr1:48175198..48176770,5	K562	blood:
7	chr1:47854453..47855152-chr1:47873547..47874149,2	K562	blood:
8	chr1:47854121..47854805-chr1:47890169..47890734,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIL-1	chr1:47854497-47854521	NONHSAT003077

No data

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489596	0.83[ASN][1000 genomes]
rs11211503	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11211514	0.82[ASN][1000 genomes]
rs12081669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12084661	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12090153	1.00[YRI][hapmap]
rs12090346	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17103075	0.86[ASN][1000 genomes]
rs2475761	0.83[ASN][1000 genomes]
rs2494245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622922	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2622923	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2742080	0.86[ASN][1000 genomes]
rs2758741	0.86[ASN][1000 genomes]
rs2821095	0.86[ASN][1000 genomes]
rs3122618	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3125626	0.86[ASN][1000 genomes]
rs60078183	0.87[ASN][1000 genomes]
rs7532785	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9436412	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs9436883	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Corneal curvature	24963161	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47827800-47854800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:47836600-47854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:47841600-47854800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:47847000-47854600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:47847000-47854600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:47847400-47858600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:47847600-47854800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:47847600-47858800	Weak transcription	HSMMtube	muscle
10	chr1:47847600-47865200	Weak transcription	GM12878-XiMat	blood
11	chr1:47847600-47872800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:47849200-47855800	Weak transcription	Dnd41	blood
13	chr1:47849400-47856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:47849400-47858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:47849600-47856000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:47852600-47855000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:47853000-47856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:47853200-47854600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:47853200-47855000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:47853200-47857400	Enhancers	HepG2	liver
21	chr1:47853400-47854800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:47853400-47854800	Enhancers	NHLF	lung
23	chr1:47853400-47855000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:47853400-47855200	Enhancers	Fetal Stomach	stomach
25	chr1:47853400-47856600	Enhancers	Fetal Intestine Large	intestine
26	chr1:47853400-47856600	Enhancers	Fetal Intestine Small	intestine
27	chr1:47853600-47855000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:47853600-47855600	Enhancers	Adipose Nuclei	Adipose
29	chr1:47854000-47855200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:47854200-47854600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
31	chr1:47854200-47854600	Bivalent Enhancer	Fetal Heart	heart
32	chr1:47854200-47854600	Enhancers	Gastric	stomach
33	chr1:47854200-47854600	Enhancers	Rectal Smooth Muscle	rectum
34	chr1:47854200-47854600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:47854200-47854600	Enhancers	K562	blood
36	chr1:47854200-47854600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr1:47854200-47854800	Enhancers	Brain Anterior Caudate	brain
38	chr1:47854200-47854800	Enhancers	Pancreas	Pancrea
39	chr1:47854200-47855000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:47854200-47855000	Enhancers	Brain Angular Gyrus	brain
41	chr1:47854200-47855000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:47854200-47857200	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:47854400-47854600	Enhancers	Liver	Liver
44	chr1:47854400-47854600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:47854400-47854600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:47854400-47854600	Enhancers	HMEC	breast
47	chr1:47854400-47854800	Bivalent Enhancer	Fetal Kidney	kidney
48	chr1:47854400-47854800	Weak transcription	HSMM	muscle
49	chr1:47854400-47855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:47854400-47855000	Enhancers	Brain Cingulate Gyrus	brain

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