Variant report

Variant	rs482435
Chromosome Location	chr2:169676045-169676046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169675392..169677475-chr2:169677807..169680088,2	K562	blood:
2	chr2:169673408..169675097-chr2:169675121..169676627,2	K562	blood:
3	chr2:169675030..169679300-chr2:169679665..169684286,7	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2461389	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3843328	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs486153	0.87[ASN][1000 genomes]
rs486838	1.00[ASN][1000 genomes]
rs543262	0.92[CEU][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs550081	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557002	0.90[ASN][1000 genomes]
rs558922	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6433093	0.92[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs6716139	1.00[ASN][1000 genomes]
rs830024	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9287903	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs482435	KRT17	trans	parietal	SCAN
rs482435	HSS00376448	cis	multi-tissue	Pritchard
rs482435	NOSTRIN	cis	Liver	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169661400-169676800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
4	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
6	chr2:169672600-169676800	Strong transcription	Fetal Intestine Small	intestine
7	chr2:169673000-169678400	Strong transcription	Fetal Intestine Large	intestine
8	chr2:169673400-169679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
10	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
11	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
12	chr2:169673400-169692200	Weak transcription	Gastric	stomach
13	chr2:169673800-169676600	Weak transcription	HMEC	breast
14	chr2:169674000-169676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:169674600-169676600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:169675000-169676200	Weak transcription	Fetal Thymus	thymus
17	chr2:169675400-169676400	Genic enhancers	K562	blood
18	chr2:169675400-169677200	Enhancers	Fetal Heart	heart
19	chr2:169675600-169676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:169675600-169676200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:169675600-169676200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:169675600-169676200	Enhancers	Fetal Brain Male	brain
23	chr2:169675600-169676200	Enhancers	Fetal Brain Female	brain
24	chr2:169675600-169676200	Flanking Active TSS	HUVEC	blood vessel
25	chr2:169675600-169676200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr2:169675600-169676600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:169675600-169676600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:169675600-169678800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:169675800-169676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:169675800-169676200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:169675800-169676200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:169675800-169676200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:169675800-169676200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr2:169675800-169676200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:169675800-169676200	Active TSS	Brain Substantia Nigra	brain
36	chr2:169675800-169676200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:169675800-169676200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr2:169675800-169676200	Flanking Active TSS	Right Atrium	heart
39	chr2:169675800-169676200	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:169675800-169676200	Active TSS	Osteobl	bone
41	chr2:169675800-169676400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:169675800-169676400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:169675800-169676400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:169675800-169676600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:169675800-169677000	Genic enhancers	Left Ventricle	heart
46	chr2:169676000-169676200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:169676000-169676200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr2:169676000-169676200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:169676000-169676400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:169676000-169676400	Enhancers	Adipose Nuclei	Adipose

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