Variant report

Variant	rs6488097
Chromosome Location	chr12:32991992-32991993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32988171..32990454-chr12:32990868..32992937,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10772008	0.80[CHB][hapmap];0.82[CHD][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs10844364	0.83[AMR][1000 genomes]
rs11052256	0.81[GIH][hapmap];0.83[AMR][1000 genomes]
rs11052262	0.81[AMR][1000 genomes]
rs11052273	0.87[ASN][1000 genomes]
rs1114701	0.87[MEX][hapmap]
rs1902140	0.81[AMR][1000 genomes]
rs2124152	0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs2389108	0.81[AMR][1000 genomes]
rs2892685	0.81[AMR][1000 genomes]
rs4931044	0.84[TSI][hapmap]
rs4931047	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[ASN][1000 genomes]
rs6488096	0.92[ASN][1000 genomes]
rs7138369	0.83[ASN][1000 genomes]
rs7138966	0.81[AMR][1000 genomes]
rs7962334	0.80[MEX][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6488097	CAPRIN2	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
7	chr12:32974400-32992600	Weak transcription	Pancreas	Pancrea
8	chr12:32974600-33004400	Weak transcription	Ovary	ovary
9	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:32982000-32992200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:32985400-32992400	Weak transcription	Gastric	stomach
12	chr12:32986600-32995200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr12:32987000-32994000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:32987200-32995200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:32987400-32992000	Weak transcription	Colonic Mucosa	Colon
16	chr12:32987400-32996600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:32987600-32992400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:32987600-32996200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:32987800-32996400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:32988400-32994200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:32988600-32995000	Strong transcription	Liver	Liver
22	chr12:32988800-32994800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:32989000-32998200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:32989200-32993200	Genic enhancers	Fetal Heart	heart
25	chr12:32989400-32992400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:32989400-32996200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:32989800-32995200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:32990000-32992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:32990200-32996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:32990400-32993800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:32990400-32994200	Strong transcription	Placenta	Placenta
32	chr12:32990400-32996600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:32990600-32997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:32990800-32993600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:32991000-32993600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:32991000-32993800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:32991000-32994800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:32991000-32996200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:32991200-32993800	Strong transcription	Fetal Stomach	stomach
40	chr12:32991200-32994200	Strong transcription	HMEC	breast
41	chr12:32991200-32997000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:32991400-32992800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:32991400-32993000	Strong transcription	HepG2	liver
44	chr12:32991600-32993200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:32991600-32993600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:32991800-32992000	Enhancers	Stomach Mucosa	stomach
47	chr12:32991800-32992800	Strong transcription	Left Ventricle	heart
48	chr12:32991800-32994000	Strong transcription	Fetal Intestine Large	intestine
49	chr12:32991800-32996800	Strong transcription	NHEK	skin

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