Variant report

Variant	rs1986946
Chromosome Location	chr12:11919822-11919823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10772506	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap]
rs11609711	0.89[TSI][hapmap]
rs2051526	0.85[TSI][hapmap]
rs3782139	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs3825083	0.82[EUR][1000 genomes]
rs4763725	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs4763726	0.80[CHB][hapmap]
rs7311189	0.85[TSI][hapmap]
rs7311993	0.82[CHB][hapmap]
rs7957338	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963499	0.85[TSI][hapmap]
rs7973524	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv469114	chr12:11916908-11929481	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557575	chr12:11916908-11929481	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
3	chr12:11914400-11921600	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:11914400-11925400	Genic enhancers	Dnd41	blood
5	chr12:11914400-11925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:11914600-11920400	Enhancers	Fetal Stomach	stomach
7	chr12:11914800-11923600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:11915000-11920000	Enhancers	Stomach Mucosa	stomach
9	chr12:11915200-11920000	Enhancers	Osteobl	bone
10	chr12:11915400-11920000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:11915400-11920800	Weak transcription	Gastric	stomach
12	chr12:11915400-11938000	Weak transcription	NHEK	skin
13	chr12:11915600-11920000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:11915600-11921800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:11916600-11922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:11916800-11920000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr12:11916800-11921400	Enhancers	Thymus	Thymus
19	chr12:11916800-11921600	Enhancers	Brain Hippocampus Middle	brain
20	chr12:11917000-11920600	Enhancers	Spleen	Spleen
21	chr12:11917200-11920000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:11917400-11920200	Weak transcription	HepG2	liver
23	chr12:11917400-11922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:11917600-11920200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:11918000-11920000	Enhancers	NH-A	brain
26	chr12:11918000-11920200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:11918000-11920400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr12:11918000-11921200	Enhancers	Fetal Lung	lung
29	chr12:11918000-11923600	Enhancers	Adipose Nuclei	Adipose
30	chr12:11918000-11923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:11918200-11920000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:11918200-11920000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:11918200-11920000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:11918200-11920600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:11918200-11920600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:11918400-11920600	Flanking Active TSS	GM12878-XiMat	blood
38	chr12:11918400-11921600	Enhancers	Fetal Intestine Large	intestine
39	chr12:11918600-11920000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr12:11918800-11920000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:11918800-11920000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:11918800-11920000	Enhancers	Brain Substantia Nigra	brain
43	chr12:11918800-11920000	Enhancers	Lung	lung
44	chr12:11918800-11920200	Enhancers	HMEC	breast
45	chr12:11918800-11920800	Weak transcription	Small Intestine	intestine
46	chr12:11918800-11922000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:11919000-11920200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:11919000-11921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:11919000-11921600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:11919000-11921800	Enhancers	Duodenum Smooth Muscle	Duodenum

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