Variant report

Variant	rs547927636
Chromosome Location	chr12:64237081-64237082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr12:64237053-64238992	MCF-7	breast:	n/a	chr12:64237881-64237891 chr12:64237743-64237753 chr12:64237399-64237409 chr12:64237752-64237761 chr12:64237648-64237658
2	MXI1	chr12:64236855-64239441	IMR90	lung:	n/a	n/a
3	MAZ	chr12:64236869-64238998	IMR90	lung:	n/a	n/a
4	SP1	chr12:64237062-64238101	A549	lung:	n/a	n/a
5	SP1	chr12:64236984-64238133	A549	lung:	n/a	n/a
6	SMC3	chr12:64237003-64241021	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr12:64236987-64240990	SK-N-SH	brain:	n/a	chr12:64237803-64237813 chr12:64237798-64237817 chr12:64238883-64238896 chr12:64238700-64238709 chr12:64239786-64239795 chr12:64237801-64237814 chr12:64237664-64237677
8	RCOR1	chr12:64237031-64237211	Hela-S3	cervix:	n/a	n/a
9	NRF1	chr12:64237001-64238988	SK-N-SH	brain:	n/a	chr12:64237752-64237761
10	CHD2	chr12:64236941-64237933	GM12878	blood:	n/a	chr12:64237713-64237723
11	CTCF	chr12:64236845-64239609	A549	lung:	n/a	chr12:64237797-64237815 chr12:64237652-64237665 chr12:64237800-64237813 chr12:64237797-64237810
12	POLR2A	chr12:64237036-64239107	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:64237012-64238139	HepG2	liver:	n/a	n/a
14	TCF12	chr12:64236929-64239954	A549	lung:	n/a	chr12:64237807-64237817 chr12:64238884-64238891
15	MXI1	chr12:64236910-64240979	SK-N-SH	brain:	n/a	n/a
16	REST	chr12:64236921-64238082	A549	lung:	n/a	chr12:64237851-64237864
17	MAX	chr12:64236984-64238111	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr12:64237063-64238660	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr12:64237066-64238649	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr12:64236913-64240863	IMR90	lung:	n/a	chr12:64237713-64237723
21	MAX	chr12:64236872-64239129	A549	lung:	n/a	n/a
22	SIN3AK20	chr12:64237025-64241007	MCF-7	breast:	n/a	n/a
23	EP300	chr12:64236912-64238099	A549	lung:	n/a	chr12:64237743-64237759 chr12:64237875-64237891 chr12:64237289-64237296 chr12:64237882-64237891
24	IRF3	chr12:64237046-64237246	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:64236922-64239088	A549	lung:	n/a	n/a
26	HCFC1	chr12:64236936-64239418	Hela-S3	cervix:	n/a	n/a
27	E2F6	chr12:64236901-64238537	A549	lung:	n/a	chr12:64237881-64237891 chr12:64237743-64237753 chr12:64237399-64237409 chr12:64237752-64237761 chr12:64237648-64237658
28	EP300	chr12:64237026-64238193	A549	lung:	n/a	chr12:64237743-64237759 chr12:64238154-64238170 chr12:64237875-64237891 chr12:64237289-64237296 chr12:64237882-64237891
29	POLR2A	chr12:64236857-64238149	PANC-1	pancreas:	n/a	n/a
30	MYC	chr12:64236922-64238573	A549	lung:	n/a	n/a
31	GATA3	chr12:64237026-64238212	A549	lung:	n/a	chr12:64238107-64238117
32	POLR2A	chr12:64236985-64238143	PANC-1	pancreas:	n/a	n/a
33	YY1	chr12:64237072-64238076	H1-hESC	embryonic stem cell:	n/a	chr12:64237877-64237891 chr12:64237743-64237757
34	CTCF	chr12:64236958-64239174	SK-N-SH	brain:	n/a	chr12:64237797-64237815 chr12:64237652-64237665 chr12:64237800-64237813 chr12:64237797-64237810
35	MAX	chr12:64236993-64239064	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64236758..64238491-chr12:64513269..64515825,2	MCF-7	breast:
2	chr12:64235952..64238772-chr12:64614485..64617363,3	K562	blood:
3	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
4	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
5	chr12:64234749..64237107-chr12:64586923..64589437,2	MCF-7	breast:
6	chr12:64235522..64237444-chr12:64652638..64654533,2	K562	blood:
7	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
SRGAP1	TF binding region
ENSG00000174206	Chromatin interaction
ENSG00000255817	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv1821934	chr12:64234926-64238128	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
8	esv1847797	chr12:64234926-64238128	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
9	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
10	esv3360781	chr12:64236510-64239058	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64236800-64237200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:64236800-64238400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:64236800-64238400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:64236800-64238400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:64236800-64238600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:64236800-64238800	Active TSS	Fetal Brain Female	brain
7	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
9	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:64237000-64237200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:64237000-64237200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:64237000-64237200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:64237000-64237200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr12:64237000-64237200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
17	chr12:64237000-64237200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr12:64237000-64237200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:64237000-64237200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:64237000-64237200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr12:64237000-64237200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:64237000-64237200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr12:64237000-64237200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
24	chr12:64237000-64237200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:64237000-64237200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:64237000-64237200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:64237000-64237200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:64237000-64237200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:64237000-64237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:64237000-64237200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:64237000-64237200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr12:64237000-64237200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr12:64237000-64237200	Active TSS	Colonic Mucosa	Colon
34	chr12:64237000-64237200	Flanking Active TSS	Fetal Brain Male	brain
35	chr12:64237000-64237200	Flanking Active TSS	Fetal Kidney	kidney
36	chr12:64237000-64237200	Active TSS	Placenta	Placenta
37	chr12:64237000-64237200	Flanking Active TSS	Fetal Stomach	stomach
38	chr12:64237000-64237200	Bivalent Enhancer	Fetal Thymus	thymus
39	chr12:64237000-64237200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr12:64237000-64237200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:64237000-64237200	Enhancers	Spleen	Spleen
42	chr12:64237000-64237200	Active TSS	GM12878-XiMat	blood
43	chr12:64237000-64237200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr12:64237000-64237400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr12:64237000-64237400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:64237000-64237400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:64237000-64237400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr12:64237000-64237400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:64237000-64237400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr12:64237000-64237400	Flanking Active TSS	Liver	Liver

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