Variant report

Variant	rs7965140
Chromosome Location	chr12:57918002-57918003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57916882-57919110	U87	brain:	n/a	n/a
2	POLR2A	chr12:57915733-57918696	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:57915483-57918252	Hela-S3	cervix:	n/a	n/a
4	MTA3	chr12:57916889-57918162	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:57917814-57918735	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:57911713-57919299	SK-N-MC	brain:	n/a	n/a
7	PML	chr12:57916912-57918215	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57915797-57918188	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:57917555-57918192	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:57917499-57918427	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
12	POLR2A	chr12:57917992-57918245	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:57915375-57927219	K562	blood:	n/a	n/a
14	POLR2A	chr12:57912610-57921102	K562	blood:	n/a	n/a
15	STAT5A	chr12:57916978-57918255	GM12878	blood:	n/a	chr12:57917506-57917514
16	POLR2A	chr12:57908062-57920927	K562	blood:	n/a	n/a
17	POLR2A	chr12:57917715-57918731	HL-60	blood:	n/a	n/a
18	POLR2A	chr12:57917450-57919020	K562	blood:	n/a	n/a
19	POLR2A	chr12:57916885-57918266	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:57916870-57918716	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr12:57917867-57918679	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:57916888-57918820	U87	brain:	n/a	n/a
23	TBL1XR1	chr12:57917996-57918110	K562	blood:	n/a	n/a
24	WRNIP1	chr12:57917115-57918270	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
2	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
3	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
4	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
5	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
6	chr12:57848374..57850176-chr12:57916596..57918121,2	MCF-7	breast:
7	chr12:57916381..57918711-chr12:58131475..58134282,2	MCF-7	breast:
8	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
9	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
10	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
11	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
12	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
13	chr12:57916409..57919050-chr12:57983099..57985919,3	MCF-7	breast:

No data

Variant related genes	Relation type
MIR616	TF binding region
MBD6	TF binding region
DDIT3	TF binding region
ENSG00000111087	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000178498	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11835158	0.82[AFR][1000 genomes]
rs17119735	0.91[AMR][1000 genomes]
rs34551572	1.00[ASW][hapmap];0.85[LWK][hapmap];0.98[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73344088	0.91[AMR][1000 genomes]
rs73346006	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs747341	0.91[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	esv3429239	chr12:57915210-57918058	Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57912400-57918600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:57917000-57918200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr12:57917000-57918400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:57917000-57919000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr12:57917200-57918200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:57917200-57918200	Flanking Active TSS	Liver	Liver
7	chr12:57917200-57918200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr12:57917200-57918200	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr12:57917200-57918200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:57917200-57918400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:57917200-57918400	Flanking Active TSS	NH-A	brain
12	chr12:57917200-57918600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr12:57917200-57919000	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr12:57917200-57920800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:57917400-57918200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:57917400-57918200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:57917400-57918200	Flanking Active TSS	Fetal Heart	heart
18	chr12:57917400-57918200	Flanking Active TSS	Placenta	Placenta
19	chr12:57917400-57918400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
20	chr12:57917400-57918800	Transcr. at gene 5' and 3'	K562	blood
21	chr12:57917400-57922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:57917600-57918200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:57917600-57918200	Enhancers	Ovary	ovary
24	chr12:57917600-57918200	Enhancers	Small Intestine	intestine
25	chr12:57917600-57918200	Transcr. at gene 5' and 3'	A549	lung
26	chr12:57917600-57918400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:57917600-57918400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:57917600-57918400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:57917600-57918400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:57917600-57918400	Transcr. at gene 5' and 3'	NHEK	skin
31	chr12:57917600-57918600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
32	chr12:57917600-57918600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr12:57917600-57918600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:57917600-57918600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr12:57917600-57918800	Flanking Active TSS	Psoas Muscle	Psoas
36	chr12:57917600-57918800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
37	chr12:57917600-57919000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:57917600-57920400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:57917600-57921000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:57917600-57939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:57917800-57918200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:57917800-57918200	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
43	chr12:57917800-57918200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:57917800-57918200	Transcr. at gene 5' and 3'	Thymus	Thymus
45	chr12:57917800-57918200	Flanking Active TSS	HepG2	liver
46	chr12:57917800-57918400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:57917800-57918400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
48	chr12:57917800-57918400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:57917800-57918400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:57917800-57918400	Enhancers	Stomach Mucosa	stomach

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