Variant report

Variant	rs747300
Chromosome Location	chr12:51753017-51753018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51747253..51748969-chr12:51752047..51753827,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10431488	1.00[CHD][hapmap]
rs12815548	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
6	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:51745800-51753200	Weak transcription	Stomach Mucosa	stomach
8	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:51746000-51755600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51746000-51756400	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr12:51746200-51753400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:51746200-51754800	Weak transcription	K562	blood
13	chr12:51746200-51757400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
17	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:51746600-51755600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:51746800-51759000	Strong transcription	Primary T cells from cord blood	blood
20	chr12:51746800-51759600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:51746800-51762600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:51747400-51754200	Weak transcription	Pancreas	Pancrea
23	chr12:51747400-51758200	Strong transcription	Thymus	Thymus
24	chr12:51747400-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:51747400-51759600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:51747400-51759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:51747400-51760000	Strong transcription	Fetal Thymus	thymus
28	chr12:51747400-51761200	Strong transcription	Dnd41	blood
29	chr12:51747400-51762800	Strong transcription	NHEK	skin
30	chr12:51747800-51756400	Strong transcription	NHLF	lung
31	chr12:51747800-51758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:51748000-51757600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:51748400-51753400	Strong transcription	Fetal Stomach	stomach
34	chr12:51748400-51754600	Strong transcription	Gastric	stomach
35	chr12:51748600-51753200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr12:51749000-51762000	Weak transcription	HUVEC	blood vessel
37	chr12:51749200-51761200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:51749600-51759400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:51749800-51753800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:51750200-51755000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:51750200-51759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:51750400-51753400	Strong transcription	Brain Substantia Nigra	brain
43	chr12:51750400-51755600	Weak transcription	Brain Anterior Caudate	brain
44	chr12:51750600-51754600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:51750600-51754600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:51750600-51755200	Strong transcription	Fetal Intestine Large	intestine
47	chr12:51751000-51753600	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
49	chr12:51751600-51754400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:51751600-51757800	Weak transcription	Spleen	Spleen

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