Variant report

Variant	rs71082959
Chromosome Location	chr12:122760952-122760953
allele	-/GTGTGTGTGTGTGTGTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:122760768-122761144	NB4	blood:	n/a	n/a
2	POLR2A	chr12:122760661-122761200	HL-60	blood:	n/a	n/a
3	POLR2A	chr12:122760659-122761368	HL-60	blood:	n/a	n/a
4	MYC	chr12:122760740-122761159	NB4	blood:	n/a	n/a
5	POLR2A	chr12:122760830-122761244	NB4	blood:	n/a	n/a
6	REST	chr12:122760630-122761311	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122750460..122753402-chr12:122760156..122762778,3	K562	blood:
2	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:
3	chr12:122759362..122761887-chr12:122763951..122766011,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000139719	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000256861	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs2271409	0.82[AFR][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs56835868	0.91[AFR][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60258475	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60317410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122751800-122762800	Weak transcription	Psoas Muscle	Psoas
3	chr12:122751800-122762800	Weak transcription	Small Intestine	intestine
4	chr12:122752000-122761400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:122752000-122761400	Weak transcription	HepG2	liver
6	chr12:122752000-122762600	Weak transcription	Fetal Lung	lung
7	chr12:122752000-122762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:122752000-122762800	Weak transcription	K562	blood
9	chr12:122752000-122763000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:122752000-122764000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:122752000-122764000	Weak transcription	Fetal Heart	heart
12	chr12:122752000-122764200	Weak transcription	Stomach Mucosa	stomach
13	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
15	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:122752200-122766800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:122752400-122762800	Weak transcription	Fetal Brain Male	brain
19	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:122752600-122765200	Weak transcription	Hela-S3	cervix
21	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:122755200-122764000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:122755400-122764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:122755400-122765800	Strong transcription	Adipose Nuclei	Adipose
25	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:122756000-122766200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:122756200-122766800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:122756600-122766000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:122757000-122763600	Strong transcription	Fetal Intestine Small	intestine
30	chr12:122757200-122763000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:122757200-122766200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:122757600-122762200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:122757600-122762800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:122757800-122762200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:122757800-122762800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:122757800-122762800	Weak transcription	HUVEC	blood vessel
38	chr12:122758200-122761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:122758200-122762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:122758200-122762800	Weak transcription	Fetal Brain Female	brain
41	chr12:122758200-122764000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:122758400-122762000	Weak transcription	NHDF-Ad	bronchial
43	chr12:122758400-122762200	Weak transcription	A549	lung
44	chr12:122758600-122761000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:122758600-122761400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:122758600-122762200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:122758600-122762600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122758600-122762600	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:122758600-122762800	Weak transcription	Colonic Mucosa	Colon
50	chr12:122758600-122762800	Weak transcription	Gastric	stomach

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