Variant report

Variant	rs12311443
Chromosome Location	chr12:117412066-117412067
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	chr12:117409582..117412431-chr12:117414257..117415870,2	MCF-7	breast:
2	chr12:117401492..117403135-chr12:117411916..117413854,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068244	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11068284	0.88[YRI][hapmap];0.92[AFR][1000 genomes]
rs11068291	1.00[AMR][1000 genomes]
rs12296579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AMR][1000 genomes]
rs12299208	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300945	1.00[YRI][hapmap]
rs12303371	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308160	1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309993	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310473	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313091	1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AMR][1000 genomes]
rs12322115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61193113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309550	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:117387800-117463600	Weak transcription	HMEC	breast
4	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
5	chr12:117394600-117415400	Weak transcription	HSMMtube	muscle
6	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
7	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
8	chr12:117398200-117417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:117400400-117417800	Weak transcription	K562	blood
10	chr12:117400800-117415400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117402200-117417200	Weak transcription	Stomach Mucosa	stomach
12	chr12:117403000-117412200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:117403400-117416800	Weak transcription	HUVEC	blood vessel
14	chr12:117403400-117418000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:117403400-117423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:117403600-117413200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:117403600-117420400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:117404600-117427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:117404600-117442400	Weak transcription	HepG2	liver
20	chr12:117404800-117426400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:117405400-117418000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:117405600-117420400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:117408000-117420200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:117408000-117427600	Weak transcription	Dnd41	blood
26	chr12:117408200-117417400	Weak transcription	Gastric	stomach
27	chr12:117408200-117424800	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:117408200-117426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:117408200-117427000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:117408200-117429600	Weak transcription	Brain Substantia Nigra	brain
31	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:117408400-117413400	Weak transcription	NH-A	brain
33	chr12:117408400-117420200	Weak transcription	Fetal Brain Male	brain
34	chr12:117408400-117420400	Weak transcription	Fetal Lung	lung
35	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
37	chr12:117408600-117415400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:117408600-117416400	Weak transcription	Brain Germinal Matrix	brain
39	chr12:117408600-117420800	Weak transcription	Fetal Heart	heart
40	chr12:117408600-117422400	Weak transcription	Fetal Intestine Small	intestine
41	chr12:117408800-117415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:117409000-117427200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:117409600-117412200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:117409800-117414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:117409800-117414800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:117409800-117415200	Weak transcription	GM12878-XiMat	blood
47	chr12:117410000-117412600	Strong transcription	Fetal Stomach	stomach
48	chr12:117410000-117413800	Strong transcription	Primary T cells from cord blood	blood
49	chr12:117410200-117412200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117410200-117412200	Strong transcription	HSMM	muscle

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