Variant report

Variant	rs10450
Chromosome Location	chr12:56984606-56984607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56979662..56981852-chr12:56983411..56984934,2	K562	blood:
2	chr12:49946981..49947732-chr12:56984035..56984765,2	MCF-7	breast:
3	chr12:56984454..56986672-chr12:57038080..57040120,2	K562	blood:
4	chr12:56982987..56986695-chr12:56987397..56990502,5	MCF-7	breast:
5	chr12:56982926..56985609-chr12:56993193..56997020,5	K562	blood:
6	chr12:56966829..56967373-chr12:56983778..56984619,2	MCF-7	breast:
7	chr12:56907111..56908261-chr12:56983746..56984871,6	MCF-7	breast:
8	chr12:56984135..56986592-chr12:56989665..56992269,2	MCF-7	breast:
9	chr12:56976730..56978679-chr12:56984351..56986438,2	K562	blood:
10	chr12:56982350..56985361-chr12:56995041..56997439,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000207031	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10783794	0.87[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10876916	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1107479	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs11171914	1.00[JPT][hapmap]
rs12229457	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1563896	0.95[JPT][hapmap]
rs2035081	0.80[CHB][hapmap]
rs2242497	0.81[JPT][hapmap]
rs2255074	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2256341	0.84[EUR][1000 genomes]
rs2290893	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2926743	0.83[TSI][hapmap]
rs2950387	0.80[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2950389	0.85[JPT][hapmap]
rs2950390	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2958123	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2958139	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2958149	0.83[TSI][hapmap]
rs2958153	0.80[CHB][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]
rs2958154	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2958155	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4759254	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7978685	0.83[TSI][hapmap]
rs9368	0.86[CHB][hapmap]
rs941207	0.90[JPT][hapmap]
rs941209	0.89[JPT][hapmap]
rs9634246	0.80[CHB][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]

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	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv526706	chr12:56961932-56988342	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
2	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
3	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
4	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
5	chr12:56972200-56985000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:56972800-56985400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:56973800-56990600	Weak transcription	Psoas Muscle	Psoas
8	chr12:56975800-56991600	Weak transcription	Small Intestine	intestine
9	chr12:56976000-56984800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:56976000-56990600	Weak transcription	GM12878-XiMat	blood
11	chr12:56976200-56989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:56976200-56989600	Weak transcription	Colonic Mucosa	Colon
13	chr12:56976200-56991000	Weak transcription	HepG2	liver
14	chr12:56976400-56990800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:56976600-56990800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:56976800-56990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:56976800-56990800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:56977000-56986800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
20	chr12:56978000-56987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:56978200-56990600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:56979600-56989200	Weak transcription	Primary B cells from cord blood	blood
23	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
24	chr12:56979800-56990800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:56980400-56985600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:56980600-56984800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:56980600-56984800	Strong transcription	Ovary	ovary
28	chr12:56980600-56985800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr12:56980800-56984800	Strong transcription	Adipose Nuclei	Adipose
30	chr12:56980800-56985400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:56980800-56986800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:56981000-56984800	Strong transcription	NHEK	skin
33	chr12:56981000-56985000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:56981000-56985000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:56981000-56985000	Strong transcription	HMEC	breast
36	chr12:56981000-56985200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:56981000-56985200	Strong transcription	Left Ventricle	heart
38	chr12:56981000-56985200	Strong transcription	Lung	lung
39	chr12:56981000-56985400	Strong transcription	Fetal Lung	lung
40	chr12:56981000-56986200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:56981200-56984800	Strong transcription	NH-A	brain
42	chr12:56981200-56985000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr12:56981800-56984800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:56981800-56988400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:56982000-56988400	Weak transcription	Brain Germinal Matrix	brain
46	chr12:56982000-56990800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:56982200-56987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:56982400-56985800	Weak transcription	NHDF-Ad	bronchial
49	chr12:56982400-56989400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:56982400-56990600	Weak transcription	Dnd41	blood

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