Variant report

Variant	rs2541119
Chromosome Location	chr12:11829309-11829310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12301681	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580759	0.85[ASN][1000 genomes]
rs12809794	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817477	1.00[CEU][hapmap]
rs12820094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826301	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829015	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12829658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12830471	0.85[ASN][1000 genomes]
rs12831402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111048	0.86[MEX][hapmap];0.84[EUR][1000 genomes]
rs2724625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724627	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724632	1.00[JPT][hapmap];0.86[MEX][hapmap]
rs2856320	0.83[GIH][hapmap]
rs34038917	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34364159	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34744715	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34771084	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34809544	0.81[ASN][1000 genomes]
rs34826165	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34845319	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35250129	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35534801	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35651671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35929278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36060832	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455399	0.85[ASN][1000 genomes]
rs71455400	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455401	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963043	0.88[EUR][1000 genomes];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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11815000-11836800	Weak transcription	NHEK	skin
5	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
7	chr12:11815200-11837800	Weak transcription	NH-A	brain
8	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:11821600-11830200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:11822000-11829600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:11822000-11850000	Weak transcription	HMEC	breast
14	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:11823600-11829800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:11824600-11829800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
18	chr12:11825000-11829400	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:11825000-11830200	Enhancers	Spleen	Spleen
20	chr12:11825200-11830000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:11825400-11829600	Enhancers	Right Atrium	heart
22	chr12:11825400-11829600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:11825400-11830000	Enhancers	Left Ventricle	heart
24	chr12:11825600-11829800	Enhancers	Adipose Nuclei	Adipose
25	chr12:11825600-11829800	Enhancers	Right Ventricle	heart
26	chr12:11825800-11830200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:11826000-11829400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:11826000-11830200	Weak transcription	Fetal Brain Female	brain
29	chr12:11826000-11837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:11826000-11837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:11826000-11838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:11826200-11829400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:11826200-11829600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:11826200-11831000	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:11826200-11838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:11826200-11839200	Weak transcription	HepG2	liver
38	chr12:11826400-11829400	Weak transcription	Fetal Stomach	stomach
39	chr12:11826600-11829600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:11826600-11829600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:11826600-11829600	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:11827000-11829400	Enhancers	Psoas Muscle	Psoas
43	chr12:11827000-11829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:11827000-11829600	Enhancers	Gastric	stomach
45	chr12:11827000-11829600	Enhancers	Lung	lung
46	chr12:11827200-11829600	Enhancers	Small Intestine	intestine
47	chr12:11827200-11830800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:11827200-11833200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:11827400-11830400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:11827400-11830800	Weak transcription	Brain Inferior Temporal Lobe	brain

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