Variant report

Variant	rs368563241
Chromosome Location	chr13:111359154-111359155
allele	C/T
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	EGR1	chr13:111358121-111359157	HCT-116	colon:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
7	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:111356708-111359163	U87	brain:	n/a	n/a
9	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:111358116-111359205	PBDE	blood:	n/a	n/a
11	EP300	chr13:111359123-111359460	GM12878	blood:	n/a	n/a
12	MYC	chr13:111358117-111359285	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
13	POLR2A	chr13:111358024-111359741	GM12892	blood:	n/a	n/a
14	FOXM1	chr13:111358855-111359735	GM12878	blood:	n/a	n/a
15	MYC	chr13:111358572-111359410	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
16	POLR2A	chr13:111358052-111359591	MCF-7	breast:	n/a	n/a
17	MXI1	chr13:111357115-111359542	IMR90	lung:	n/a	n/a
18	POLR2A	chr13:111357842-111359437	GM12878	blood:	n/a	n/a
19	POLR2A	chr13:111357740-111359172	HUVEC	blood vessel:	n/a	n/a
20	KAP1	chr13:111358868-111359610	HEK293	kidney:	n/a	n/a
21	MAX	chr13:111358125-111359186	HepG2	liver:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
22	MXI1	chr13:111357075-111359518	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr13:111358006-111359255	GM12891	blood:	n/a	n/a
24	POLR2A	chr13:111358161-111359615	GM12892	blood:	n/a	n/a
25	MAX	chr13:111358040-111359708	HepG2	liver:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
26	POLR2A	chr13:111357894-111359290	GM12892	blood:	n/a	n/a
27	TCF7L2	chr13:111358431-111359448	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr13:111356939-111359163	U87	brain:	n/a	n/a
29	TFAP2A	chr13:111358154-111359284	Hela-S3	cervix:	n/a	chr13:111358538-111358550
30	POLR2A	chr13:111358087-111359273	Gliobla	brain:	n/a	n/a
31	ZNF263	chr13:111358167-111359586	HEK293-T-REx	kidney:	n/a	chr13:111358670-111358679
32	SMARCB1	chr13:111357980-111359536	Hela-S3	cervix:	n/a	n/a
33	TAF1	chr13:111358010-111359248	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr13:111358100-111359168	HepG2	liver:	n/a	n/a
35	MAX	chr13:111358012-111359158	Hela-S3	cervix:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
36	POLR2A	chr13:111357964-111359365	GM12891	blood:	n/a	n/a
37	POLR2A	chr13:111357900-111359163	Hela-S3	cervix:	n/a	n/a
38	RUNX3	chr13:111358242-111359174	GM12878	blood:	n/a	n/a
39	MYC	chr13:111358651-111359416	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
40	MAX	chr13:111357919-111359248	HCT-116	colon:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
41	STAT5A	chr13:111358473-111359208	GM12878	blood:	n/a	n/a
42	POU2F2	chr13:111358683-111359331	GM12891	blood:	n/a	n/a
43	RXRA	chr13:111358996-111359588	GM12878	blood:	n/a	n/a
44	MYC	chr13:111358835-111359234	GM12878	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
45	POLR2A	chr13:111358244-111359616	GM12878	blood:	n/a	n/a
46	POLR2A	chr13:111358008-111359451	GM12878	blood:	n/a	n/a
47	POLR2A	chr13:111358128-111359203	MCF-7	breast:	n/a	n/a
48	POLR2A	chr13:111358173-111359176	A549	lung:	n/a	n/a
49	POLR2A	chr13:111358065-111359191	GM15510	blood:	n/a	n/a
50	POLR2A	chr13:111357998-111359291	K562	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: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3451976	chr13:111358882-111359208	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 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	chr13:111357800-111359200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr13:111357800-111359200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:111358000-111359400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:111358600-111359200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr13:111358600-111359200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr13:111358600-111359200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr13:111358600-111359200	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr13:111358600-111359400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:111358600-111359600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr13:111358800-111359200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111358800-111359200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr13:111358800-111359200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
14	chr13:111358800-111359200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:111358800-111359200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr13:111358800-111359200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr13:111358800-111359200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:111358800-111359200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:111358800-111359200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:111358800-111359200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:111358800-111359200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr13:111358800-111359200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr13:111358800-111359200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr13:111358800-111359200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr13:111358800-111359200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr13:111358800-111359200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:111358800-111359200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:111358800-111359200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:111358800-111359200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr13:111358800-111359200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:111358800-111359200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:111358800-111359200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr13:111358800-111359200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:111358800-111359200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:111358800-111359200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:111358800-111359200	Flanking Active TSS	Liver	Liver
37	chr13:111358800-111359200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr13:111358800-111359200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr13:111358800-111359200	Flanking Active TSS	Esophagus	oesophagus
40	chr13:111358800-111359200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr13:111358800-111359200	Flanking Active TSS	Fetal Brain Female	brain
42	chr13:111358800-111359200	Flanking Active TSS	Fetal Heart	heart
43	chr13:111358800-111359200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr13:111358800-111359200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr13:111358800-111359200	Flanking Active TSS	Fetal Lung	lung
46	chr13:111358800-111359200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr13:111358800-111359200	Flanking Active TSS	Fetal Stomach	stomach
48	chr13:111358800-111359200	Flanking Active TSS	Fetal Thymus	thymus
49	chr13:111358800-111359200	Flanking Active TSS	Right Ventricle	heart
50	chr13:111358800-111359200	Flanking Active TSS	Stomach Mucosa	stomach

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