Variant report

Variant	rs11181342
Chromosome Location	chr12:42518900-42518901
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	chr12:42516680..42519468-chr12:42521438..42523192,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11181372	0.88[AFR][1000 genomes]
rs11181374	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11181376	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11181377	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11181392	0.88[AFR][1000 genomes]
rs11181394	0.88[AFR][1000 genomes]
rs12297162	0.88[AFR][1000 genomes]
rs12299193	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12300368	0.82[AFR][1000 genomes]
rs12300611	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12300698	0.88[AFR][1000 genomes]
rs12301505	0.88[AFR][1000 genomes]
rs12305400	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12307866	0.88[AFR][1000 genomes]
rs12308598	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12308904	0.88[AFR][1000 genomes]
rs12309515	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12312690	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12313448	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12313668	1.00[AFR][1000 genomes]
rs12314028	0.88[AFR][1000 genomes]
rs12319084	0.88[AFR][1000 genomes]
rs12321515	0.88[AFR][1000 genomes]
rs12322392	1.00[YRI][hapmap];0.88[AFR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
2	chr12:42476000-42524400	Weak transcription	Gastric	stomach
3	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
4	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
5	chr12:42484400-42524800	Weak transcription	Right Ventricle	heart
6	chr12:42493000-42524400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:42493000-42534400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:42493200-42519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:42505800-42522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
11	chr12:42505800-42537000	Weak transcription	Lung	lung
12	chr12:42508400-42524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:42509600-42519400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:42511200-42519000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:42512000-42519000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:42512000-42522200	Weak transcription	HMEC	breast
17	chr12:42512000-42537400	Weak transcription	Ovary	ovary
18	chr12:42512400-42519000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:42512400-42520800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:42512400-42521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:42512400-42523800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:42512400-42523800	Weak transcription	HSMM	muscle
23	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
24	chr12:42512600-42519000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:42512600-42519000	Weak transcription	Adipose Nuclei	Adipose
26	chr12:42512600-42519000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:42512600-42519400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:42512600-42524400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:42512600-42524600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:42512800-42524400	Weak transcription	Left Ventricle	heart
31	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:42513200-42519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:42513200-42523800	Weak transcription	NH-A	brain
34	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
35	chr12:42513400-42519200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:42513600-42523800	Weak transcription	NHDF-Ad	bronchial
37	chr12:42513600-42523800	Weak transcription	NHLF	lung
38	chr12:42515400-42523600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:42518200-42519800	Enhancers	Liver	Liver
40	chr12:42518400-42519000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:42518400-42519200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr12:42518400-42519400	Enhancers	Fetal Intestine Small	intestine
43	chr12:42518400-42519800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:42518400-42519800	Enhancers	Fetal Intestine Large	intestine
45	chr12:42518400-42521200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:42518600-42519000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:42518600-42519000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:42518600-42519000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:42518600-42519000	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:42518600-42519200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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