Variant report

Variant	rs368024598
Chromosome Location	chr12:64236928-64236929
allele	-/TC
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	MXI1	chr12:64236855-64239441	IMR90	lung:	n/a	n/a
2	MAZ	chr12:64236869-64238998	IMR90	lung:	n/a	n/a
3	CTCF	chr12:64236845-64239609	A549	lung:	n/a	chr12:64237797-64237815 chr12:64237652-64237665 chr12:64237800-64237813 chr12:64237797-64237810
4	MXI1	chr12:64236910-64240979	SK-N-SH	brain:	n/a	n/a
5	REST	chr12:64236921-64238082	A549	lung:	n/a	chr12:64237851-64237864
6	CHD1	chr12:64236913-64240863	IMR90	lung:	n/a	chr12:64237713-64237723
7	MAX	chr12:64236872-64239129	A549	lung:	n/a	n/a
8	EP300	chr12:64236912-64238099	A549	lung:	n/a	chr12:64237743-64237759 chr12:64237875-64237891 chr12:64237289-64237296 chr12:64237882-64237891
9	MAX	chr12:64236922-64239088	A549	lung:	n/a	n/a
10	E2F6	chr12:64236901-64238537	A549	lung:	n/a	chr12:64237881-64237891 chr12:64237743-64237753 chr12:64237399-64237409 chr12:64237752-64237761 chr12:64237648-64237658
11	POLR2A	chr12:64236857-64238149	PANC-1	pancreas:	n/a	n/a
12	MYC	chr12:64236922-64238573	A549	lung:	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:

Variant related genes	Relation type
SRGAP1	TF binding region
ENSG00000243024	Chromatin interaction
ENSG00000255817	Chromatin interaction
ENSG00000174206	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:64230600-64237000	Weak transcription	Right Atrium	heart
3	chr12:64230800-64237000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:64231000-64237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:64235400-64237000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64235600-64237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:64235600-64237000	Weak transcription	NHDF-Ad	bronchial
8	chr12:64235800-64237000	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:64236000-64237000	Weak transcription	NHLF	lung
10	chr12:64236600-64237000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:64236600-64237000	Enhancers	Fetal Brain Male	brain
12	chr12:64236800-64237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:64236800-64237000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:64236800-64237000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:64236800-64237000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:64236800-64237000	Active TSS	Adipose Nuclei	Adipose
17	chr12:64236800-64237000	Enhancers	Liver	Liver
18	chr12:64236800-64237000	Enhancers	Brain Angular Gyrus	brain
19	chr12:64236800-64237000	Enhancers	Fetal Heart	heart
20	chr12:64236800-64237000	Enhancers	Fetal Intestine Large	intestine
21	chr12:64236800-64237000	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:64236800-64237000	Flanking Active TSS	A549	lung
23	chr12:64236800-64237000	Active TSS	Hela-S3	cervix
24	chr12:64236800-64237000	Enhancers	HepG2	liver
25	chr12:64236800-64237000	Active TSS	HUVEC	blood vessel
26	chr12:64236800-64237200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:64236800-64238400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:64236800-64238400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr12:64236800-64238400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:64236800-64238600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:64236800-64238800	Active TSS	Fetal Brain Female	brain
32	chr12:64236800-64239600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:64236800-64239600	Active TSS	Brain Substantia Nigra	brain
34	chr12:64236800-64239600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:64236800-64240200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:64236800-64240800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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