Variant report

Variant	rs9633308
Chromosome Location	chr1:184476621-184476622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184473276..184475558-chr1:184475798..184477583,2	MCF-7	breast:
2	chr1:184285087..184286611-chr1:184476230..184478312,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10797971	0.83[EUR][1000 genomes]
rs10797972	0.92[CEU][hapmap];0.81[CHD][hapmap];0.81[EUR][1000 genomes]
rs10797974	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10911599	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11588922	0.80[EUR][1000 genomes]
rs1416751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1416752	0.91[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1569842	0.88[CEU][hapmap]
rs2001270	0.92[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2180077	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2378888	0.84[EUR][1000 genomes]
rs2890014	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4651208	0.82[GIH][hapmap]
rs4651210	0.82[GIH][hapmap]
rs4651213	0.91[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4651216	0.85[EUR][1000 genomes]
rs7520690	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9633308	TDRD5	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
2	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:184461000-184482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:184461600-184476800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:184461600-184479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:184464400-184478400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184468000-184482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:184469400-184478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184473600-184478400	Weak transcription	Lung	lung
12	chr1:184473600-184489400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:184473800-184476800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:184473800-184476800	Weak transcription	HSMMtube	muscle
15	chr1:184473800-184480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:184473800-184483000	Weak transcription	Colonic Mucosa	Colon
17	chr1:184474000-184477200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:184474200-184476800	Weak transcription	Fetal Brain Female	brain
19	chr1:184474200-184476800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:184474200-184477000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:184474200-184478600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:184474200-184482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:184474200-184488600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:184474400-184476800	Weak transcription	Fetal Brain Male	brain
25	chr1:184474400-184478200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:184474400-184482600	Weak transcription	Pancreas	Pancrea
27	chr1:184474400-184483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:184474400-184488000	Weak transcription	Right Ventricle	heart
29	chr1:184474400-184505400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:184475000-184478000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:184475200-184477800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:184475400-184478400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:184475600-184477400	Enhancers	NHDF-Ad	bronchial
34	chr1:184475800-184476800	Enhancers	Left Ventricle	heart
35	chr1:184475800-184477400	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:184475800-184477400	Enhancers	HUVEC	blood vessel
37	chr1:184475800-184478800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:184475800-184479000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:184476000-184482400	Weak transcription	NHEK	skin
40	chr1:184476200-184477400	Enhancers	NHLF	lung
41	chr1:184476200-184477400	Enhancers	Osteobl	bone
42	chr1:184476200-184478600	Enhancers	Fetal Heart	heart
43	chr1:184476200-184478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:184476400-184476800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:184476400-184476800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:184476400-184476800	Enhancers	Aorta	Aorta
47	chr1:184476400-184476800	Enhancers	Brain Hippocampus Middle	brain
48	chr1:184476400-184476800	Enhancers	Fetal Stomach	stomach
49	chr1:184476400-184476800	Enhancers	Small Intestine	intestine
50	chr1:184476400-184477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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