Variant report

Variant	rs12319981
Chromosome Location	chr12:117382496-117382497
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117313964..117316353-chr12:117381200..117383712,2	MCF-7	breast:
2	chr12:117174363..117175916-chr12:117381728..117384041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AMR][1000 genomes]
rs11068291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296579	1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299208	1.00[AMR][1000 genomes]
rs12303371	1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[AMR][1000 genomes]
rs12308160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[AMR][1000 genomes]
rs12309993	1.00[AMR][1000 genomes]
rs12310473	1.00[AMR][1000 genomes]
rs12311443	1.00[AMR][1000 genomes]
rs12313091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12322115	1.00[AMR][1000 genomes]
rs61193113	1.00[AMR][1000 genomes]
rs7300401	1.00[AMR][1000 genomes]
rs7309550	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
5	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117366600-117388400	Weak transcription	K562	blood
11	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix
13	chr12:117368000-117383400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:117368200-117383000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:117369800-117383200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:117371400-117383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:117371400-117383400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:117372400-117383000	Weak transcription	NH-A	brain
19	chr12:117373000-117383200	Weak transcription	Fetal Brain Male	brain
20	chr12:117373400-117383200	Weak transcription	Right Ventricle	heart
21	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
22	chr12:117374400-117385600	Weak transcription	NHDF-Ad	bronchial
23	chr12:117375000-117383200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:117375200-117382800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:117375400-117383200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:117375600-117383200	Weak transcription	Gastric	stomach
27	chr12:117376400-117383200	Weak transcription	Fetal Kidney	kidney
28	chr12:117376800-117383200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:117378000-117383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:117378000-117383400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
32	chr12:117379200-117383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:117379600-117383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:117379800-117382600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr12:117381000-117385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:117381200-117382600	Enhancers	Left Ventricle	heart
37	chr12:117381200-117385200	Strong transcription	HSMM	muscle
38	chr12:117381200-117390200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:117381200-117391200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:117381400-117382600	Enhancers	Adipose Nuclei	Adipose
41	chr12:117381400-117383000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:117381400-117383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:117381400-117383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:117381400-117383200	Weak transcription	NHEK	skin
45	chr12:117381400-117386000	Strong transcription	Aorta	Aorta
46	chr12:117381400-117387800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:117381400-117389600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:117381600-117382800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:117381600-117382800	Enhancers	Brain Anterior Caudate	brain
50	chr12:117381600-117383200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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