Variant report

Variant	rs199885343
Chromosome Location	chr13:111358972-111358973
allele	A/C
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	MAX	chr13:111358022-111359106	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
2	MAX	chr13:111358009-111359113	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
3	MYC	chr13:111357712-111359079	NB4	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
4	POLR2A	chr13:111358238-111359307	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:111358038-111358978	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr13:111358224-111358999	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr13:111358464-111359025	SK-N-SH_RA	brain:	n/a	n/a
8	CHD2	chr13:111358070-111359069	GM12878	blood:	n/a	n/a
9	MAZ	chr13:111357770-111359333	IMR90	lung:	n/a	chr13:111358858-111358868
10	POLR2A	chr13:111358007-111359401	ECC-1	luminal epithelium:	n/a	n/a
11	MYC	chr13:111358247-111359375	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
12	BCLAF1	chr13:111358471-111359475	GM12878	blood:	n/a	chr13:111358653-111358662
13	EGR1	chr13:111358121-111359157	HCT-116	colon:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
14	PAX5	chr13:111358357-111359838	GM12878	blood:	n/a	n/a
15	MAX	chr13:111358294-111359020	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
16	TBP	chr13:111358233-111359023	K562	blood:	n/a	n/a
17	TCF7L2	chr13:111358178-111359025	HCT-116	colon:	n/a	n/a
18	BHLHE40	chr13:111358350-111359050	HepG2	liver:	n/a	n/a
19	POLR2A	chr13:111356708-111359163	U87	brain:	n/a	n/a
20	MYC	chr13:111358066-111358986	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
21	POLR2A	chr13:111358108-111359060	GM12878	blood:	n/a	n/a
22	CHD2	chr13:111358256-111359009	Hela-S3	cervix:	n/a	n/a
23	FOXM1	chr13:111358316-111359762	GM12878	blood:	n/a	n/a
24	TAF1	chr13:111358068-111359097	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr13:111358116-111359205	PBDE	blood:	n/a	n/a
26	JUND	chr13:111358728-111358998	HepG2	liver:	n/a	n/a
27	CREB1	chr13:111358236-111359102	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr13:111358135-111359057	ECC-1	luminal epithelium:	n/a	chr13:111358552-111358565 chr13:111358181-111358190
29	SRF	chr13:111358234-111359023	ECC-1	luminal epithelium:	n/a	chr13:111358835-111358845
30	TCF12	chr13:111358480-111359042	A549	lung:	n/a	n/a
31	SMC3	chr13:111358290-111359042	Hela-S3	cervix:	n/a	n/a
32	MYC	chr13:111358117-111359285	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
33	POLR2A	chr13:111358105-111359035	PANC-1	pancreas:	n/a	n/a
34	MAX	chr13:111358186-111359106	SK-N-SH	brain:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
35	MYC	chr13:111357153-111359020	MCF10A-Er-Src	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
36	CBX3	chr13:111358407-111359006	K562	blood:	n/a	n/a
37	HDAC2	chr13:111358505-111359048	MCF-7	breast:	n/a	n/a
38	TAF1	chr13:111358047-111359029	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr13:111358024-111359741	GM12892	blood:	n/a	n/a
40	JUND	chr13:111358316-111358974	A549	lung:	n/a	chr13:111358656-111358670
41	USF1	chr13:111358714-111359018	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOXM1	chr13:111358855-111359735	GM12878	blood:	n/a	n/a
43	POLR2A	chr13:111358119-111359020	HEK293	kidney:	n/a	n/a
44	MYC	chr13:111358572-111359410	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
45	SRF	chr13:111358347-111359074	ECC-1	luminal epithelium:	n/a	chr13:111358835-111358845
46	POLR2A	chr13:111358137-111358983	A549	lung:	n/a	n/a
47	POLR2A	chr13:111357955-111359045	NB4	blood:	n/a	n/a
48	POLR2A	chr13:111358063-111358972	IMR90	lung:	n/a	n/a
49	POLR2A	chr13:111358245-111358976	K562	blood:	n/a	n/a
50	FOXP2	chr13:111358320-111359002	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111358924-111358974	Hepatocyte	liver:	n/a
2	chr13:111358924-111358974	NHBE	bronchial:	n/a
3	chr13:111358924-111358974	HRCEpiC	kidney:	n/a
4	chr13:111358924-111358974	H1-hESC	embryonic stem cell:	embryo
5	chr13:111358924-111358974	HAEpiC	amniotic membrane:	n/a
6	chr13:111358924-111358974	HEEpiC	esophagus:	n/a
7	chr13:111358924-111358974	AG10803	skin:	n/a
8	chr13:111358924-111358974	PFSK-1	brain:	n/a
9	chr13:111358924-111358974	AG04449	skin:	fetal
10	chr13:111358924-111358974	HRE	kidney:	n/a
11	chr13:111358924-111358974	T-47D	breast:	n/a
12	chr13:111358924-111358974	GM12891	blood:	n/a
13	chr13:111358924-111358974	MCF-7	breast:	n/a
14	chr13:111358924-111358974	PrEC	prostate:	n/a
15	chr13:111358924-111358974	HCPEpiC	choroid plexus:	n/a
16	chr13:111358924-111358974	HNPCEpiC	eye:	n/a
17	chr13:111358924-111358974	BJ	skin:	n/a
18	chr13:111358924-111358974	MCF10A-Er-Src	breast:	n/a
19	chr13:111358924-111358974	GM12892	blood:	n/a
20	chr13:111358924-111358974	HCF	heart:	n/a
21	chr13:111358924-111358974	SK-N-SH_RA	brain:	n/a
22	chr13:111358924-111358974	LNCaP	prostate:	n/a
23	chr13:111358924-111358974	HCM	heart:	n/a
24	chr13:111358924-111358974	HepG2	liver:	n/a
25	chr13:111358924-111358974	SAEC	small airway:	n/a
26	chr13:111358924-111358974	HMEC	breast:	n/a
27	chr13:111358924-111358974	IMR90	lung:	fetal
28	chr13:111358924-111358974	SK-N-SH	brain:	n/a
29	chr13:111358924-111358974	HCT-116	colon:	n/a
30	chr13:111358924-111358974	HPAEpiC	pulmonary alveolar:	n/a
31	chr13:111358924-111358974	SK-N-MC	brain:	n/a
32	chr13:111358924-111358974	NT2-D1	testis:	n/a
33	chr13:111358924-111358974	NH-A	brain:	n/a
34	chr13:111358924-111358974	NB4	blood:	n/a
35	chr13:111358924-111358974	AG09319	gingival:	n/a
36	chr13:111358924-111358974	U87	brain:	n/a
37	chr13:111358924-111358974	HRPEpiC	eye:	n/a
38	chr13:111358924-111358974	CMK	blood:	n/a
39	chr13:111358924-111358974	GM06990	blood:	n/a
40	chr13:111358924-111358974	Hela-S3	cervix:	n/a
41	chr13:111358924-111358974	AG09309	skin:	n/a
42	chr13:111358924-111358974	ProgFib	skin:	n/a
43	chr13:111358924-111358974	GM12878	blood:	n/a
44	chr13:111358924-111358974	Caco-2	colon:	n/a
45	chr13:111358924-111358974	ovcar-3	ovarian:	n/a
46	chr13:111358924-111358974	HUVEC	blood vessel:	n/a
47	chr13:111358924-111358974	SKMC	muscle:	n/a
48	chr13:111358924-111358974	GM19239	blood:	n/a
49	chr13:111358924-111358974	BE2_C	brain:	n/a
50	chr13:111358924-111358974	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111357509..111359061-chr13:111566329..111568110,2	MCF-7	breast:
2	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
3	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
CARS2	CpG island
ENSG00000213995	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	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
14	esv1961045	chr13:111358969-111358973	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
15	esv1732483	chr13:111358970-111358974	Flanking Active TSS Active TSS 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111357200-111359000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:111357400-111359000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:111357400-111359000	Active TSS	Ovary	ovary
5	chr13:111357600-111359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:111357600-111359000	Active TSS	Fetal Kidney	kidney
7	chr13:111357800-111359000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:111357800-111359000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr13:111357800-111359000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:111357800-111359000	Active TSS	Aorta	Aorta
11	chr13:111357800-111359000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr13:111357800-111359000	Active TSS	A549	lung
13	chr13:111357800-111359200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr13:111357800-111359200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:111358000-111359000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr13:111358000-111359000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr13:111358000-111359000	Active TSS	Brain Angular Gyrus	brain
18	chr13:111358000-111359000	Active TSS	Brain Anterior Caudate	brain
19	chr13:111358000-111359000	Active TSS	Brain Cingulate Gyrus	brain
20	chr13:111358000-111359400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:111358600-111359000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr13:111358600-111359000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:111358600-111359000	Flanking Active TSS	Fetal Brain Male	brain
24	chr13:111358600-111359200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr13:111358600-111359200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr13:111358600-111359200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr13:111358600-111359200	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr13:111358600-111359400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:111358600-111359600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr13:111358800-111359000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:111358800-111359000	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr13:111358800-111359000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr13:111358800-111359000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:111358800-111359000	Flanking Active TSS	Placenta	Placenta
35	chr13:111358800-111359000	Flanking Active TSS	Left Ventricle	heart
36	chr13:111358800-111359000	Flanking Active TSS	Lung	lung
37	chr13:111358800-111359000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
38	chr13:111358800-111359000	Flanking Active TSS	Psoas Muscle	Psoas
39	chr13:111358800-111359000	Active TSS	Right Atrium	heart
40	chr13:111358800-111359000	Flanking Active TSS	Spleen	Spleen
41	chr13:111358800-111359200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr13:111358800-111359200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr13:111358800-111359200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr13:111358800-111359200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:111358800-111359200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr13:111358800-111359200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr13:111358800-111359200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:111358800-111359200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:111358800-111359200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:111358800-111359200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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