Variant report

Variant	rs4760298
Chromosome Location	chr12:57911729-57911730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57911692-57912575	U87	brain:	n/a	n/a
2	POLR2A	chr12:57908101-57916508	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:57907839-57915181	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:57911713-57919299	SK-N-MC	brain:	n/a	n/a
5	HEY1	chr12:57909567-57914433	K562	blood:	n/a	n/a
6	POLR2A	chr12:57908219-57914828	A549	lung:	n/a	n/a
7	POLR2A	chr12:57904506-57914962	K562	blood:	n/a	n/a
8	POLR2A	chr12:57908236-57914960	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:57908014-57914558	U87	brain:	n/a	n/a
10	POLR2A	chr12:57908255-57914954	IMR90	lung:	n/a	n/a
11	POLR2A	chr12:57911632-57912527	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:57908093-57915086	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
14	POLR2A	chr12:57911720-57912610	GM12892	blood:	n/a	n/a
15	POLR2A	chr12:57908268-57914527	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:57908090-57915139	K562	blood:	n/a	n/a
17	POLR2A	chr12:57908603-57912530	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr12:57908424-57912495	K562	blood:	n/a	n/a
19	POLR2A	chr12:57908062-57920927	K562	blood:	n/a	n/a
20	POLR2A	chr12:57911693-57914961	HCT-116	colon:	n/a	n/a
21	POLR2A	chr12:57908262-57912570	K562	blood:	n/a	n/a
22	POLR2A	chr12:57908188-57914911	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:57907934-57915067	U87	brain:	n/a	n/a
24	POLR2A	chr12:57907994-57915073	U87	brain:	n/a	n/a
25	HEY1	chr12:57911693-57912595	K562	blood:	n/a	n/a
26	HEY1	chr12:57911697-57912074	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:57908294-57917206	HepG2	liver:	n/a	n/a
28	PML	chr12:57908507-57912597	K562	blood:	n/a	chr12:57912079-57912087
29	POLR2A	chr12:57911717-57912421	GM12891	blood:	n/a	n/a
30	POLR2A	chr12:57908734-57914513	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:57911609-57912577	HCT-116	colon:	n/a	n/a
32	POLR2A	chr12:57911702-57912578	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:57911545-57915016	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr12:57908118-57912577	K562	blood:	n/a	n/a
35	POLR2A	chr12:57911723-57912597	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:57911695-57912584	GM12892	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57911286..57913384-chr12:58133067..58135116,2	K562	blood:
2	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
3	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
4	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:
5	chr12:57910924..57913637-chr12:58087334..58089189,3	K562	blood:
6	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
7	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
8	chr12:57909425..57911920-chr12:57994928..57996477,2	K562	blood:
9	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
10	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
11	chr12:57910612..57912523-chr12:58153055..58155888,2	K562	blood:
12	chr12:57911462..57914270-chr12:58144691..58146581,3	MCF-7	breast:
13	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
14	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
15	chr12:57892733..57897365-chr12:57908296..57912099,4	MCF-7	breast:
16	chr12:57880356..57884964-chr12:57910434..57915758,10	MCF-7	breast:
17	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
18	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
19	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:
20	chr12:57909956..57912484-chr19:1273775..1275883,2	K562	blood:
21	chr12:57911596..57914324-chr12:58165059..58166579,2	MCF-7	breast:
22	chr12:57909076..57912703-chr12:58030683..58034118,3	K562	blood:

No data

Variant related genes	Relation type
MBD6	TF binding region
ENSG00000135439	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000228300	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000123329	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12313201	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12426997	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4760303	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
15	nsv559036	chr12:57911212-57916042	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	68 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57888600-57912200	Strong transcription	Fetal Stomach	stomach
2	chr12:57900600-57912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57900600-57912800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:57901600-57911800	Strong transcription	Lung	lung
5	chr12:57901800-57911800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:57901800-57911800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:57902000-57912400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr12:57902200-57912000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:57902200-57912000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:57902200-57912400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr12:57902400-57911800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:57902400-57911800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:57902400-57912000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:57902400-57912000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:57902400-57912000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:57902400-57912000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:57902400-57912000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:57902400-57912200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:57902400-57912200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:57902400-57912400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:57902400-57912800	Strong transcription	Fetal Brain Female	brain
22	chr12:57902600-57911800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:57902600-57911800	Strong transcription	HepG2	liver
24	chr12:57902600-57912000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:57902600-57912000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:57902600-57912000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:57902600-57912200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:57902800-57912600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:57903000-57911800	Strong transcription	Primary T cells from cord blood	blood
30	chr12:57903000-57912000	Strong transcription	GM12878-XiMat	blood
31	chr12:57903000-57912200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:57903000-57912200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:57903000-57912600	Strong transcription	Brain Germinal Matrix	brain
34	chr12:57903200-57911800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:57903800-57912600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:57904400-57912200	Strong transcription	Spleen	Spleen
37	chr12:57904800-57912000	Strong transcription	Aorta	Aorta
38	chr12:57905000-57911800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:57905000-57912000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:57905000-57912400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:57908000-57912200	Strong transcription	Fetal Kidney	kidney
42	chr12:57908200-57911800	Strong transcription	Colonic Mucosa	Colon
43	chr12:57908200-57912600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:57910200-57912400	Genic enhancers	HUVEC	blood vessel
45	chr12:57910400-57911800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:57910400-57911800	Genic enhancers	Left Ventricle	heart
47	chr12:57910400-57911800	Genic enhancers	Dnd41	blood
48	chr12:57910400-57911800	Genic enhancers	NHLF	lung
49	chr12:57910400-57912000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:57910600-57911800	Enhancers	Right Atrium	heart

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