Variant report

Variant	rs726302
Chromosome Location	chr12:66626157-66626158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66620432..66622372-chr12:66623962..66626531,2	MCF-7	breast:
2	chr12:66619417..66622573-chr12:66625034..66628303,3	MCF-7	breast:
3	chr12:66581178..66583030-chr12:66624956..66627272,2	MCF-7	breast:
4	chr12:66533040..66534906-chr12:66624306..66626654,2	MCF-7	breast:
5	chr12:66622728..66624960-chr12:66625044..66626548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090376	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11176074	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11176075	1.00[CEU][hapmap]
rs11176084	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11465939	0.86[EUR][1000 genomes]
rs11465961	0.93[EUR][1000 genomes]
rs11465965	0.93[EUR][1000 genomes]
rs11832980	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12297278	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12312119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102243	0.93[EUR][1000 genomes]
rs17767394	0.93[EUR][1000 genomes]
rs1921081	1.00[CEU][hapmap]
rs1967338	1.00[CEU][hapmap]
rs56195926	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58265032	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61209657	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61648127	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7307195	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs73327332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
3	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas
4	chr12:66605400-66628200	Weak transcription	NHDF-Ad	bronchial
5	chr12:66608800-66628800	Weak transcription	Gastric	stomach
6	chr12:66609000-66628800	Weak transcription	Left Ventricle	heart
7	chr12:66609200-66628800	Weak transcription	Colonic Mucosa	Colon
8	chr12:66609200-66629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:66609400-66626200	Weak transcription	Small Intestine	intestine
10	chr12:66610000-66628800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:66611600-66627600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:66612000-66626600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:66612200-66628000	Weak transcription	Placenta	Placenta
14	chr12:66612400-66628200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:66612600-66628000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:66613400-66628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:66614200-66627200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:66614200-66628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
20	chr12:66616800-66626600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:66618000-66626600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:66618400-66626600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:66618800-66628600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:66618800-66628800	Weak transcription	Fetal Stomach	stomach
25	chr12:66619200-66628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:66620200-66626600	Strong transcription	Fetal Lung	lung
27	chr12:66620800-66628000	Weak transcription	Fetal Brain Male	brain
28	chr12:66622000-66626200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:66622000-66626600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:66622000-66628000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:66622400-66628800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:66623400-66626400	Strong transcription	Lung	lung
33	chr12:66624400-66628000	Weak transcription	Spleen	Spleen
34	chr12:66624400-66628600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:66624400-66628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:66624400-66628800	Weak transcription	Aorta	Aorta
37	chr12:66624800-66628200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:66625200-66626600	Enhancers	Thymus	Thymus
39	chr12:66625400-66628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:66625400-66628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:66625600-66626600	Enhancers	Fetal Thymus	thymus
42	chr12:66625800-66626600	Enhancers	Liver	Liver
43	chr12:66625800-66626600	Enhancers	Fetal Muscle Leg	muscle
44	chr12:66626000-66626200	Enhancers	Pancreas	Pancrea
45	chr12:66626000-66626400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:66626000-66626400	Enhancers	Duodenum Mucosa	Duodenum

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