Variant report

Variant	rs630654
Chromosome Location	chr12:120985377-120985378
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120932214..120934636-chr12:120985300..120987224,2	K562	blood:
2	chr12:120983886..120985471-chr12:120992501..120994406,2	K562	blood:
3	chr12:120984923..120987191-chr12:121000937..121003289,2	K562	blood:
4	chr12:120883764..120885896-chr12:120983309..120985628,3	K562	blood:
5	chr12:120982370..120986191-chr12:120990238..120994001,4	K562	blood:
6	chr12:120981016..120984297-chr12:120984439..120988147,3	K562	blood:
7	chr12:120982785..120987053-chr12:120988717..120992540,5	MCF-7	breast:
8	chr12:120984282..120987778-chr12:121013554..121017607,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000167272	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs483406	0.93[AFR][1000 genomes]
rs488313	0.95[AFR][1000 genomes]
rs560385	0.95[AFR][1000 genomes]
rs567696	0.85[AFR][1000 genomes]
rs614053	1.00[AFR][1000 genomes]
rs787949	0.95[AFR][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	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
6	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
7	chr12:120977600-121016800	Strong transcription	Dnd41	blood
8	chr12:120977800-120988400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:120980000-120987200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:120980800-120985400	Weak transcription	Right Atrium	heart
11	chr12:120981000-120985400	Weak transcription	Fetal Heart	heart
12	chr12:120981200-120988400	Strong transcription	NHEK	skin
13	chr12:120981800-120987600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:120982000-120987600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:120982200-120987600	Genic enhancers	HepG2	liver
16	chr12:120982200-120988400	Strong transcription	HSMM	muscle
17	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120982400-120987200	Strong transcription	HMEC	breast
19	chr12:120982400-120987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:120982800-120985400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:120983400-120987000	Strong transcription	Hela-S3	cervix
22	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:120983600-120987000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:120983600-120987400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:120983600-120988000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:120983600-120988400	Strong transcription	Primary T cells from cord blood	blood
28	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
30	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:120983800-120985800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:120983800-120987000	Strong transcription	K562	blood
37	chr12:120983800-120987600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:120983800-120988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:120984000-120986400	Strong transcription	Osteobl	bone
43	chr12:120984000-120986600	Strong transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:120984000-120986800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:120984000-120986800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:120984000-120986800	Strong transcription	Placenta	Placenta
47	chr12:120984000-120987000	Strong transcription	Colon Smooth Muscle	Colon
48	chr12:120984000-120987000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:120984000-120987200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:120984000-120987400	Strong transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links