Variant report

Variant	rs59517025
Chromosome Location	chr12:122330708-122330709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:122330539-122330812	K562	blood:	n/a	n/a
2	E2F6	chr12:122330602-122330744	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
2	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
3	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
4	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
5	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
6	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10840625	0.82[ASN][1000 genomes]
rs1168658	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168661	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12578258	0.81[EUR][1000 genomes]
rs12579730	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12817002	0.88[ASN][1000 genomes]
rs14259	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1720066	0.86[EUR][1000 genomes]
rs1720068	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2272135	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442439	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2688409	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2707061	0.92[ASN][1000 genomes]
rs34506529	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34930953	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35252940	0.81[EUR][1000 genomes]
rs3741591	0.88[ASN][1000 genomes]
rs3825172	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4069666	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4760108	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs482421	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs483416	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs508395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55826938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56177852	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58379261	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71456716	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs71456717	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7309105	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7313748	0.81[EUR][1000 genomes]
rs7969647	0.88[ASN][1000 genomes]
rs876934	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122327600-122331600	Weak transcription	Esophagus	oesophagus
5	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122327800-122331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:122327800-122331200	Weak transcription	Fetal Kidney	kidney
8	chr12:122327800-122331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:122327800-122331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122327800-122331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122327800-122331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122327800-122331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:122328000-122331000	Weak transcription	Right Ventricle	heart
17	chr12:122328000-122331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:122328000-122332400	Enhancers	Fetal Intestine Large	intestine
19	chr12:122328200-122330800	Weak transcription	Thymus	Thymus
20	chr12:122328200-122330800	Weak transcription	A549	lung
21	chr12:122328200-122330800	Weak transcription	HepG2	liver
22	chr12:122328200-122331000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:122328200-122331000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:122328200-122331000	Weak transcription	Gastric	stomach
25	chr12:122328200-122331000	Weak transcription	Pancreas	Pancrea
26	chr12:122328200-122331000	Weak transcription	Hela-S3	cervix
27	chr12:122328200-122331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:122328200-122331200	Weak transcription	Placenta	Placenta
29	chr12:122328200-122331200	Weak transcription	HSMM	muscle
30	chr12:122328200-122331200	Weak transcription	NH-A	brain
31	chr12:122328200-122331400	Weak transcription	Spleen	Spleen
32	chr12:122328200-122331400	Weak transcription	HSMMtube	muscle
33	chr12:122328200-122331400	Weak transcription	HUVEC	blood vessel
34	chr12:122328200-122332000	Weak transcription	Brain Germinal Matrix	brain
35	chr12:122328200-122332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
38	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
41	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
42	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
43	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
44	chr12:122328400-122330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:122328400-122330800	Weak transcription	NHEK	skin
46	chr12:122328400-122331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:122328400-122331000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:122328400-122331000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:122328400-122331000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:122328400-122331200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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