Variant report

Variant	rs11610879
Chromosome Location	chr12:12663788-12663789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:12662801-12667120	SK-N-SH	brain:	n/a	chr12:12664792-12664801
2	EP300	chr12:12661255-12667747	SK-N-SH	brain:	n/a	chr12:12661260-12661274 chr12:12662415-12662429 chr12:12667385-12667399 chr12:12661255-12661269 chr12:12661301-12661311
3	FOSL2	chr12:12662880-12663820	SK-N-SH	brain:	n/a	chr12:12663109-12663118 chr12:12663151-12663162
4	TCF12	chr12:12663782-12665936	SK-N-SH	brain:	n/a	chr12:12665117-12665126
5	GATA3	chr12:12663757-12665942	SK-N-SH	brain:	n/a	chr12:12664562-12664578
6	MXI1	chr12:12662618-12666979	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12658416..12661022-chr12:12661661..12664149,3	K562	blood:
2	chr12:12662519..12664795-chr12:12714606..12716959,2	K562	blood:
3	chr12:12663311..12665385-chr12:12856305..12857896,2	MCF-7	breast:
4	chr12:12652832..12655883-chr12:12662875..12665481,3	MCF-7	breast:
5	chr12:1874559..1877368-chr12:12662625..12665193,2	MCF-7	breast:
6	chr12:12663586..12666811-chr12:12669278..12673958,4	MCF-7	breast:

Variant related genes	Relation type
DUSP16	TF binding region
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10845556	0.91[ASN][1000 genomes]
rs10845568	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054940	0.83[EUR][1000 genomes]
rs11613385	0.80[EUR][1000 genomes]
rs1558822	0.83[EUR][1000 genomes]
rs2417190	0.83[EUR][1000 genomes]
rs7972902	0.85[EUR][1000 genomes]
rs962927	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12652800-12665000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:12654400-12667200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:12656000-12666400	Weak transcription	Spleen	Spleen
9	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12659000-12667000	Weak transcription	Fetal Thymus	thymus
11	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:12659400-12663800	Enhancers	Brain Angular Gyrus	brain
13	chr12:12659400-12665200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:12659600-12663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:12659600-12664000	Enhancers	NHLF	lung
16	chr12:12659600-12664600	Enhancers	Osteobl	bone
17	chr12:12659600-12665800	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:12659800-12664600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:12659800-12664600	Weak transcription	Thymus	Thymus
20	chr12:12659800-12665200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:12659800-12665600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:12659800-12667800	Enhancers	Brain Hippocampus Middle	brain
23	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:12660000-12664400	Enhancers	NHDF-Ad	bronchial
29	chr12:12660000-12664600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:12660000-12665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:12660000-12665200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:12660000-12668600	Enhancers	Brain Substantia Nigra	brain
33	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
35	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
36	chr12:12660400-12664800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:12660400-12664800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:12660400-12665600	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:12660400-12666000	Weak transcription	Placenta	Placenta
40	chr12:12660400-12666400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:12660400-12666400	Weak transcription	Aorta	Aorta
42	chr12:12660400-12667000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:12660400-12669600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:12660400-12670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:12660400-12670000	Weak transcription	HUVEC	blood vessel
46	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
47	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
49	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
50	chr12:12660400-12672800	Weak transcription	K562	blood

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