Variant report

Variant	rs35197
Chromosome Location	chr16:65025252-65025253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1025312	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10459793	0.94[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11640810	0.81[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11647164	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12708869	0.95[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs12923000	0.95[ASN][1000 genomes]
rs1540412	0.83[AMR][1000 genomes]
rs1607696	0.86[ASN][1000 genomes]
rs1826821	0.93[ASN][1000 genomes]
rs185393	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280394	0.85[JPT][hapmap]
rs2331446	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2860056	0.93[ASN][1000 genomes]
rs35141	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35143	1.00[CEU][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35153	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35181	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35183	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35187	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760056	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3826240	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4967879	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4967881	0.93[ASN][1000 genomes]
rs7195682	0.94[ASN][1000 genomes]
rs973199	0.96[ASN][1000 genomes]
rs9930786	0.95[CHB][hapmap];0.94[CHD][hapmap];0.80[JPT][hapmap];0.95[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	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35197	RPL13AP6	trans	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:65014200-65040200	Weak transcription	Fetal Intestine Small	intestine
6	chr16:65015000-65035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:65016200-65032400	Weak transcription	Lung	lung
8	chr16:65016200-65040200	Weak transcription	Left Ventricle	heart
9	chr16:65017200-65041800	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:65018000-65025400	Weak transcription	Small Intestine	intestine
11	chr16:65018000-65035600	Strong transcription	HSMM	muscle
12	chr16:65018400-65028400	Strong transcription	NH-A	brain
13	chr16:65018400-65028600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:65018800-65026000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:65018800-65035600	Strong transcription	Osteobl	bone
16	chr16:65019000-65028000	Strong transcription	NHDF-Ad	bronchial
17	chr16:65019400-65026800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:65019600-65027800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:65020200-65028800	Strong transcription	NHLF	lung
20	chr16:65020400-65026000	Strong transcription	Fetal Stomach	stomach
21	chr16:65020400-65026800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr16:65020400-65027000	Strong transcription	Fetal Brain Female	brain
23	chr16:65021000-65034200	Weak transcription	Adipose Nuclei	Adipose
24	chr16:65021200-65026000	Strong transcription	Aorta	Aorta
25	chr16:65021200-65038200	Weak transcription	Brain Germinal Matrix	brain
26	chr16:65021800-65026200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:65021800-65027000	Strong transcription	Fetal Brain Male	brain
28	chr16:65022000-65041200	Weak transcription	Fetal Heart	heart
29	chr16:65022200-65025400	Weak transcription	Brain Angular Gyrus	brain
30	chr16:65022200-65037200	Weak transcription	Fetal Intestine Large	intestine
31	chr16:65022400-65027800	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:65023000-65026000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:65023200-65026200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:65023400-65025400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:65023400-65043200	Strong transcription	Fetal Lung	lung
36	chr16:65023600-65025400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:65023600-65025600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:65023600-65030000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:65023600-65039600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:65024000-65025400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr16:65024000-65026200	Strong transcription	Placenta	Placenta
42	chr16:65024200-65026800	Strong transcription	Fetal Kidney	kidney
43	chr16:65024400-65035000	Weak transcription	Brain Substantia Nigra	brain
44	chr16:65024600-65025800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:65024600-65026800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:65024600-65031800	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:65024800-65025600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:65024800-65025600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:65024800-65025800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr16:65024800-65028400	Strong transcription	HMEC	breast

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