Variant report

Variant	rs17528736
Chromosome Location	chr12:56368518-56368519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56366514-56368536	GM12878	blood:	n/a	n/a
2	TCF7L2	chr12:56368182-56368737	Hela-S3	cervix:	n/a	chr12:56368694-56368710 chr12:56368696-56368706 chr12:56368697-56368706 chr12:56368694-56368710 chr12:56368695-56368709
3	POLR2A	chr12:56366505-56368623	HepG2	liver:	n/a	n/a
4	TCF12	chr12:56367005-56368524	ECC-1	luminal epithelium:	n/a	chr12:56367843-56367853
5	POLR2A	chr12:56366594-56368575	GM12878	blood:	n/a	n/a
6	TBP	chr12:56368268-56368524	Hela-S3	cervix:	n/a	n/a
7	MTA3	chr12:56366427-56368647	GM12878	blood:	n/a	n/a
8	HCFC1	chr12:56365225-56368998	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:56367207-56368524	ECC-1	luminal epithelium:	n/a	n/a
10	SMARCC1	chr12:56366600-56368743	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:56366568-56368677	HUVEC	blood vessel:	n/a	n/a
12	MXI1	chr12:56366845-56368535	Hela-S3	cervix:	n/a	n/a
13	REST	chr12:56366422-56368724	H1-neurons	neurons:	n/a	chr12:56368169-56368179
14	WRNIP1	chr12:56368335-56368650	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:56366608-56368543	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr12:56366548-56368540	HL-60	blood:	n/a	n/a
17	POLR2A	chr12:56366621-56368812	K562	blood:	n/a	n/a
18	PML	chr12:56366189-56368614	GM12878	blood:	n/a	n/a
19	SIN3A	chr12:56366894-56368593	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:56366651-56368521	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:56366555-56368518	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:56364249-56369472	IMR90	lung:	n/a	n/a
23	STAT5A	chr12:56366374-56368574	GM12878	blood:	n/a	chr12:56367825-56367837 chr12:56368566-56368574

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56137010..56139176-chr12:56366479..56369419,2	MCF-7	breast:
2	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
3	chr12:56366046..56368936-chr12:56496419..56498164,2	MCF-7	breast:
4	chr11:66384080..66384647-chr12:56367878..56368687,2	Hela-S3	cervix:
5	chr12:56348719..56352915-chr12:56364675..56368847,8	MCF-7	breast:
6	chr12:56365739..56372949-chr12:56384756..56392202,12	MCF-7	breast:
7	chr12:56367458..56369126-chr12:56546076..56548223,2	MCF-7	breast:
8	chr12:56365214..56370075-chr12:56508797..56513405,7	K562	blood:
9	chr12:56222536..56225150-chr12:56365763..56368658,3	MCF-7	breast:
10	chr12:56136828..56138672-chr12:56366872..56368947,2	MCF-7	breast:
11	chr12:56366137..56368983-chr12:56496697..56499860,3	K562	blood:
12	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
13	chr12:56367891..56368728-chr17:48943964..48944786,2	Hela-S3	cervix:
14	chr12:56368058..56369661-chr12:56581605..56583172,2	MCF-7	breast:
15	chr12:56365099..56368915-chr12:56389537..56395397,5	K562	blood:
16	chr12:56364726..56370308-chr12:56432734..56438629,15	K562	blood:
17	chr12:56367291..56369317-chr12:56511670..56513322,2	MCF-7	breast:
18	chr12:56366211..56368901-chr12:56482165..56483976,2	MCF-7	breast:
19	chr12:56135373..56137325-chr12:56366402..56369141,2	K562	blood:
20	chr12:56367265..56369715-chr12:56472830..56474688,3	MCF-7	breast:
21	chr12:56364512..56372057-chr12:56434108..56438254,11	MCF-7	breast:
22	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
23	chr12:56366879..56368778-chr12:56434721..56436659,2	MCF-7	breast:
24	chr12:56319824..56321701-chr12:56366631..56369066,2	K562	blood:
25	chr12:56366345..56369020-chr3:167813307..167815912,2	MCF-7	breast:
26	chr12:56332625..56335607-chr12:56366338..56368554,4	MCF-7	breast:
27	chr12:56209486..56213209-chr12:56366653..56370251,5	MCF-7	breast:
28	chr12:56210044..56216553-chr12:56364276..56371676,13	MCF-7	breast:
29	chr12:56364761..56370418-chr12:56496365..56499534,4	K562	blood:

No data

Variant related genes	Relation type
PMEL	TF binding region
ENSG00000248643	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000185664	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35075600	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 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	chr12:56365600-56369000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:56366200-56369000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56366200-56369000	Active TSS	Right Atrium	heart
4	chr12:56366400-56368600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:56366400-56368600	Active TSS	HSMMtube	muscle
6	chr12:56366400-56369000	Active TSS	Right Ventricle	heart
7	chr12:56366400-56369000	Active TSS	GM12878-XiMat	blood
8	chr12:56366400-56369000	Active TSS	NHLF	lung
9	chr12:56366600-56368600	Active TSS	Brain Hippocampus Middle	brain
10	chr12:56366600-56368600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:56366600-56368600	Active TSS	Lung	lung
12	chr12:56366600-56368600	Active TSS	Stomach Mucosa	stomach
13	chr12:56366600-56368800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:56366600-56368800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:56366600-56368800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:56366600-56368800	Active TSS	Brain Cingulate Gyrus	brain
17	chr12:56366600-56369000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:56366600-56369000	Active TSS	Fetal Muscle Trunk	muscle
19	chr12:56366600-56369200	Active TSS	Ovary	ovary
20	chr12:56366600-56369400	Active TSS	Esophagus	oesophagus
21	chr12:56366800-56368600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:56366800-56368600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:56366800-56368600	Active TSS	Brain Anterior Caudate	brain
24	chr12:56366800-56368600	Active TSS	Colon Smooth Muscle	Colon
25	chr12:56366800-56368600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:56366800-56368600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:56366800-56368600	Active TSS	Fetal Intestine Small	intestine
28	chr12:56366800-56368600	Active TSS	Fetal Muscle Leg	muscle
29	chr12:56366800-56368600	Active TSS	Fetal Stomach	stomach
30	chr12:56366800-56368600	Active TSS	Gastric	stomach
31	chr12:56366800-56368600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:56366800-56368800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:56366800-56368800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:56366800-56368800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:56366800-56368800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:56366800-56368800	Active TSS	Fetal Intestine Large	intestine
37	chr12:56366800-56368800	Active TSS	Psoas Muscle	Psoas
38	chr12:56366800-56368800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr12:56366800-56368800	Active TSS	Small Intestine	intestine
40	chr12:56366800-56369000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:56366800-56369000	Active TSS	Aorta	Aorta
42	chr12:56366800-56369000	Active TSS	Colonic Mucosa	Colon
43	chr12:56366800-56369200	Active TSS	Left Ventricle	heart
44	chr12:56367000-56368600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:56367000-56368600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:56367000-56368600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56367000-56368600	Active TSS	Primary T cells from cord blood	blood
48	chr12:56367000-56368600	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr12:56367000-56368600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:56367000-56368600	Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links