Variant report

Variant	rs572900037
Chromosome Location	chr13:111359291-111359292
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	POLR2A	chr13:111358238-111359307	HepG2	liver:	n/a	n/a
2	MAZ	chr13:111357770-111359333	IMR90	lung:	n/a	chr13:111358858-111358868
3	POLR2A	chr13:111358007-111359401	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr13:111358247-111359375	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
5	BCLAF1	chr13:111358471-111359475	GM12878	blood:	n/a	chr13:111358653-111358662
6	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
7	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
8	EP300	chr13:111359123-111359460	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:111358024-111359741	GM12892	blood:	n/a	n/a
10	FOXM1	chr13:111358855-111359735	GM12878	blood:	n/a	n/a
11	MYC	chr13:111358572-111359410	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
12	POLR2A	chr13:111358052-111359591	MCF-7	breast:	n/a	n/a
13	MXI1	chr13:111357115-111359542	IMR90	lung:	n/a	n/a
14	RXRA	chr13:111359197-111359412	GM12878	blood:	n/a	n/a
15	POLR2A	chr13:111357842-111359437	GM12878	blood:	n/a	n/a
16	KAP1	chr13:111358868-111359610	HEK293	kidney:	n/a	n/a
17	MXI1	chr13:111357075-111359518	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr13:111358161-111359615	GM12892	blood:	n/a	n/a
19	MAX	chr13:111358040-111359708	HepG2	liver:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
20	TCF7L2	chr13:111358431-111359448	Hela-S3	cervix:	n/a	n/a
21	ZNF263	chr13:111358167-111359586	HEK293-T-REx	kidney:	n/a	chr13:111358670-111358679
22	SMARCB1	chr13:111357980-111359536	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:111357964-111359365	GM12891	blood:	n/a	n/a
24	MYC	chr13:111358651-111359416	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
25	POU2F2	chr13:111358683-111359331	GM12891	blood:	n/a	n/a
26	RXRA	chr13:111358996-111359588	GM12878	blood:	n/a	n/a
27	POLR2A	chr13:111358244-111359616	GM12878	blood:	n/a	n/a
28	POLR2A	chr13:111358008-111359451	GM12878	blood:	n/a	n/a
29	BCL3	chr13:111359273-111359700	GM12878	blood:	n/a	n/a
30	POLR2A	chr13:111357998-111359291	K562	blood:	n/a	n/a
31	HDAC2	chr13:111359090-111359302	K562	blood:	n/a	n/a
32	POLR2A	chr13:111358013-111359378	GM12878	blood:	n/a	n/a
33	CREB1	chr13:111357982-111359292	HepG2	liver:	n/a	n/a
34	EP300	chr13:111358871-111359644	GM12878	blood:	n/a	n/a
35	ELF1	chr13:111358090-111359583	GM12878	blood:	n/a	chr13:111358559-111358568 chr13:111358685-111358697 chr13:111358556-111358569
36	MAX	chr13:111358010-111359511	Hela-S3	cervix:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
37	POLR2A	chr13:111358098-111359305	MCF-7	breast:	n/a	n/a
38	KAP1	chr13:111358739-111359523	U2OS	brain:	n/a	n/a
39	SP1	chr13:111359138-111359603	GM12878	blood:	n/a	n/a
40	POLR2A	chr13:111359288-111359307	Gliobla	brain:	n/a	n/a
41	EP300	chr13:111359241-111359363	GM12878	blood:	n/a	n/a
42	ELF1	chr13:111357992-111359355	GM12878	blood:	n/a	chr13:111358559-111358568 chr13:111358685-111358697 chr13:111358556-111358569
43	EP300	chr13:111358708-111359579	GM12878	blood:	n/a	n/a
44	SUZ12	chr13:111359034-111359592	H1-hESC	embryonic stem cell:	n/a	n/a
45	MTA3	chr13:111358498-111359661	GM12878	blood:	n/a	n/a
46	CTCF	chr13:111359130-111359479	GM19239	blood:	n/a	n/a
47	POLR2A	chr13:111358075-111359545	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
2	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000213995	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv1818465	chr13:111329426-111360585	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv1820532	chr13:111329426-111360585	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv1823336	chr13:111329535-111360585	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv519282	chr13:111343888-111360585	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	esv3345776	chr13:111356851-111361549	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	esv3407458	chr13:111357801-111360499	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
12	esv1007915	chr13:111358695-111360090	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111358000-111359400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:111358600-111359400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:111358600-111359600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr13:111358800-111359400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:111358800-111359400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:111358800-111359400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:111358800-111359400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:111358800-111359400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr13:111358800-111359400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr13:111358800-111359400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr13:111358800-111359400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr13:111358800-111359400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr13:111358800-111359400	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr13:111358800-111359400	Flanking Active TSS	Colonic Mucosa	Colon
16	chr13:111358800-111359400	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr13:111358800-111359400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr13:111358800-111359400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:111358800-111359400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr13:111358800-111359400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr13:111358800-111359400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr13:111358800-111359400	Flanking Active TSS	Dnd41	blood
23	chr13:111358800-111359400	Flanking Active TSS	Hela-S3	cervix
24	chr13:111358800-111359400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr13:111358800-111359400	Flanking Active TSS	NH-A	brain
26	chr13:111358800-111359400	Flanking Active TSS	NHEK	skin
27	chr13:111358800-111359600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:111358800-111359600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:111358800-111359600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr13:111358800-111359600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:111358800-111359600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:111358800-111359600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:111358800-111359600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr13:111358800-111359600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr13:111358800-111359600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:111358800-111359600	Flanking Active TSS	Gastric	stomach
37	chr13:111358800-111359600	Flanking Active TSS	Pancreas	Pancrea
38	chr13:111358800-111359600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr13:111358800-111359600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr13:111358800-111359600	Flanking Active TSS	HepG2	liver
41	chr13:111358800-111359800	Flanking Active TSS	GM12878-XiMat	blood
42	chr13:111359000-111359400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr13:111359000-111359400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr13:111359000-111359400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:111359000-111359400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr13:111359000-111359400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr13:111359000-111359400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:111359000-111359400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr13:111359000-111359400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr13:111359000-111359400	Enhancers	Left Ventricle	heart

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