Variant report

Variant	rs56840343
Chromosome Location	chr12:51324454-51324455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51319857..51322014-chr12:51323288..51325736,3	K562	blood:
2	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
3	chr12:51318791..51320608-chr12:51323941..51325800,2	MCF-7	breast:
4	chr12:51320246..51322142-chr12:51323288..51326015,3	K562	blood:
5	chr12:51309810..51312439-chr12:51323683..51325205,2	MCF-7	breast:
6	chr12:51322696..51325064-chr12:51325952..51327620,2	K562	blood:

Variant related genes	Relation type
ENSG00000185432	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169614	1.00[AMR][1000 genomes]
rs11835513	1.00[AMR][1000 genomes]
rs17124979	1.00[AMR][1000 genomes]
rs17125085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125227	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125245	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809906	1.00[AMR][1000 genomes]
rs56883422	1.00[AMR][1000 genomes]
rs56979742	1.00[AMR][1000 genomes]
rs58343549	1.00[AMR][1000 genomes]
rs58493263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089061	1.00[AMR][1000 genomes]
rs60610335	1.00[AMR][1000 genomes]
rs60720958	1.00[AMR][1000 genomes]
rs60886362	0.86[AFR][1000 genomes]
rs61550892	1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	1.00[AMR][1000 genomes]
rs7312269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296205	1.00[AMR][1000 genomes]
rs73297927	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297940	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297966	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298000	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300041	1.00[AMR][1000 genomes]
rs73308073	1.00[AMR][1000 genomes]
rs73308091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308096	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311230	1.00[AMR][1000 genomes]
rs73311252	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319200-51326400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:51319800-51326200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51320400-51328600	Weak transcription	HSMM	muscle
6	chr12:51320600-51327400	Weak transcription	Placenta	Placenta
7	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:51321000-51325600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:51321600-51325000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:51322000-51324800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:51322200-51326400	Weak transcription	Hela-S3	cervix
12	chr12:51322200-51326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:51322200-51327200	Weak transcription	Fetal Heart	heart
14	chr12:51322200-51327200	Weak transcription	NHDF-Ad	bronchial
15	chr12:51322200-51327400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:51322200-51327400	Weak transcription	HSMMtube	muscle
17	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
18	chr12:51322400-51325000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:51322400-51327200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:51322400-51327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:51322400-51327200	Weak transcription	Esophagus	oesophagus
22	chr12:51322400-51327600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:51322400-51327800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:51322600-51325000	Strong transcription	Fetal Stomach	stomach
26	chr12:51322600-51326400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:51322600-51326600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:51322600-51326600	Weak transcription	HMEC	breast
29	chr12:51322600-51326800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:51322600-51327200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:51322800-51324600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:51322800-51324800	Strong transcription	Fetal Intestine Small	intestine
33	chr12:51322800-51325000	Weak transcription	GM12878-XiMat	blood
34	chr12:51322800-51326800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:51322800-51327600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:51322800-51328200	Weak transcription	NHEK	skin
37	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:51323000-51324800	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr12:51323000-51325400	Weak transcription	Colonic Mucosa	Colon
40	chr12:51323000-51327200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:51323000-51327200	Weak transcription	Right Atrium	heart
42	chr12:51323000-51327800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:51323000-51331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
45	chr12:51323200-51325200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr12:51323200-51325600	Weak transcription	Small Intestine	intestine
47	chr12:51323200-51325800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:51323200-51328000	Weak transcription	NHLF	lung
49	chr12:51323400-51324600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr12:51323400-51324800	Strong transcription	Rectal Mucosa Donor 31	rectum

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