Variant report

Variant	rs12321105
Chromosome Location	chr12:51583738-51583739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51583245..51586471-chr12:51611180..51613523,3	K562	blood:
2	chr12:51582618..51587161-chr12:51588342..51592612,4	K562	blood:
3	chr12:51157422..51159290-chr12:51583634..51585267,2	MCF-7	breast:
4	chr12:51581609..51583817-chr12:51631242..51632967,2	MCF-7	breast:
5	chr12:51581274..51584144-chr12:51584768..51587377,2	K562	blood:
6	chr12:51573087..51575284-chr12:51583237..51585121,2	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs11169753	1.00[EUR][1000 genomes]
rs11832566	1.00[MEX][hapmap]
rs12297981	1.00[EUR][1000 genomes]
rs12304834	1.00[EUR][1000 genomes]
rs12310188	1.00[EUR][1000 genomes]
rs12310717	1.00[EUR][1000 genomes]
rs2359600	1.00[EUR][1000 genomes]
rs2359601	1.00[EUR][1000 genomes]
rs2359602	1.00[EUR][1000 genomes]
rs3951439	1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7138157	1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	1.00[EUR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
3	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
5	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
6	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:51580400-51592000	Weak transcription	Gastric	stomach
8	chr12:51580600-51583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:51580600-51587800	Weak transcription	Placenta	Placenta
10	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:51581200-51583800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:51581400-51583800	Enhancers	HSMMtube	muscle
15	chr12:51581400-51584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
17	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51581600-51585800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:51581600-51586400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:51581600-51587200	Strong transcription	Fetal Brain Female	brain
21	chr12:51581800-51583800	Weak transcription	Liver	Liver
22	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
25	chr12:51582000-51583800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:51582000-51586200	Strong transcription	Brain Anterior Caudate	brain
27	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
28	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:51582200-51585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:51582200-51585800	Weak transcription	Fetal Kidney	kidney
31	chr12:51582200-51586400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:51582200-51587400	Strong transcription	Brain Germinal Matrix	brain
33	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
34	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:51582200-51608000	Weak transcription	NHLF	lung
36	chr12:51582400-51585000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:51582400-51585400	Weak transcription	Esophagus	oesophagus
38	chr12:51582400-51587000	Strong transcription	Brain Substantia Nigra	brain
39	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:51582600-51587200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:51582600-51590600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:51582800-51586400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:51583000-51584000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:51583000-51584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:51583000-51584600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr12:51583000-51586000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr12:51583000-51586400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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