Variant report

Variant	rs200731397
Chromosome Location	chr13:111358198-111358199
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	CTCF	chr13:111358180-111358330	GM12866	blood:	n/a	n/a
2	MAX	chr13:111358022-111359106	A549	lung:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
3	MAX	chr13:111358009-111359113	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
4	CTCF	chr13:111358140-111358290	HBMEC	blood vessel:	n/a	n/a
5	POLR2A	chr13:111358176-111358926	K562	blood:	n/a	n/a
6	POLR2A	chr13:111358169-111358907	HCT-116	colon:	n/a	n/a
7	MYC	chr13:111357712-111359079	NB4	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
8	HMGN3	chr13:111358088-111358929	K562	blood:	n/a	n/a
9	POLR2A	chr13:111358038-111358978	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr13:111358169-111358950	HUVEC	blood vessel:	n/a	n/a
11	TAF1	chr13:111358139-111358612	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr13:111358070-111359069	GM12878	blood:	n/a	n/a
13	CTCF	chr13:111358160-111358310	SK-N-SH_RA	brain:	n/a	n/a
14	MAZ	chr13:111357770-111359333	IMR90	lung:	n/a	chr13:111358858-111358868
15	POLR2A	chr13:111358007-111359401	ECC-1	luminal epithelium:	n/a	n/a
16	EGR1	chr13:111358121-111359157	HCT-116	colon:	n/a	chr13:111358527-111358541 chr13:111358549-111358564 chr13:111358551-111358562
17	TCF7L2	chr13:111358178-111359025	HCT-116	colon:	n/a	n/a
18	CTCF	chr13:111358080-111358750	IMR90	lung:	n/a	n/a
19	POLR2A	chr13:111356708-111359163	U87	brain:	n/a	n/a
20	CTCF	chr13:111358160-111358310	GM12875	blood:	n/a	n/a
21	MYC	chr13:111358066-111358986	K562	blood:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
22	POLR2A	chr13:111358108-111359060	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:111358012-111358806	K562	blood:	n/a	n/a
24	TAF1	chr13:111358068-111359097	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr13:111358100-111358250	AG09309	skin:	n/a	n/a
26	YY1	chr13:111358058-111358905	HepG2	liver:	n/a	n/a
27	CTCF	chr13:111358100-111358250	WERI-Rb-1	eye:	n/a	n/a
28	POLR2A	chr13:111358116-111359205	PBDE	blood:	n/a	n/a
29	CTCF	chr13:111358120-111358270	AG10803	skin:	n/a	n/a
30	CTCF	chr13:111358120-111358270	GM12871	blood:	n/a	n/a
31	MAZ	chr13:111358033-111358877	K562	blood:	n/a	chr13:111358858-111358868
32	EP300	chr13:111358135-111359057	ECC-1	luminal epithelium:	n/a	chr13:111358552-111358565 chr13:111358181-111358190
33	CTCF	chr13:111358189-111358239	Pancreas_OC	pancreas:	n/a	n/a
34	TAF1	chr13:111358146-111358900	K562	blood:	n/a	n/a
35	CTCF	chr13:111358120-111358270	SK-N-SH_RA	brain:	n/a	n/a
36	MYC	chr13:111358117-111359285	MCF-7	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
37	POLR2A	chr13:111358105-111359035	PANC-1	pancreas:	n/a	n/a
38	CTCF	chr13:111358120-111358270	HMEC	breast:	n/a	n/a
39	MAX	chr13:111358186-111359106	SK-N-SH	brain:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
40	HCFC1	chr13:111358100-111358917	K562	blood:	n/a	n/a
41	MYC	chr13:111357153-111359020	MCF10A-Er-Src	breast:	n/a	chr13:111358858-111358868 chr13:111358856-111358866
42	CTCF	chr13:111358080-111358230	GM12869	blood:	n/a	n/a
43	CTCF	chr13:111358100-111358250	HPF	lung:	n/a	n/a
44	TAF1	chr13:111358047-111359029	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr13:111358024-111359741	GM12892	blood:	n/a	n/a
46	POLR2A	chr13:111358119-111359020	HEK293	kidney:	n/a	n/a
47	POLR2A	chr13:111358137-111358983	A549	lung:	n/a	n/a
48	POLR2A	chr13:111358193-111358938	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr13:111357955-111359045	NB4	blood:	n/a	n/a
50	POLR2A	chr13:111358063-111358972	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111357509..111359061-chr13:111566329..111568110,2	MCF-7	breast:
2	chr12:52444794..52445706-chr13:111357930..111358458,2	Hela-S3	cervix:
3	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
4	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000213995	Chromatin interaction
ENSG00000088448	Chromatin interaction
ENSG00000123358	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111356600-111358400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:111356600-111358800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:111356800-111358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:111357000-111358200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr13:111357200-111358200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr13:111357200-111358200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:111357200-111358200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:111357200-111358200	Flanking Active TSS	Fetal Brain Female	brain
9	chr13:111357200-111358800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr13:111357200-111358800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:111357200-111358800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111357200-111358800	Active TSS	NHDF-Ad	bronchial
13	chr13:111357200-111359000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111357200-111359400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:111357400-111358200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr13:111357400-111358200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr13:111357400-111358800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:111357400-111358800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:111357400-111358800	Active TSS	Fetal Intestine Large	intestine
20	chr13:111357400-111358800	Active TSS	Left Ventricle	heart
21	chr13:111357400-111358800	Active TSS	Psoas Muscle	Psoas
22	chr13:111357400-111359000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr13:111357400-111359000	Active TSS	Ovary	ovary
24	chr13:111357600-111358200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr13:111357600-111358200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr13:111357600-111358200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:111357600-111358200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:111357600-111358200	Active TSS	Right Atrium	heart
29	chr13:111357600-111358400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:111357600-111358800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:111357600-111358800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:111357600-111358800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:111357600-111358800	Active TSS	Colonic Mucosa	Colon
34	chr13:111357600-111358800	Active TSS	Lung	lung
35	chr13:111357600-111358800	Active TSS	GM12878-XiMat	blood
36	chr13:111357600-111358800	Active TSS	HSMM	muscle
37	chr13:111357600-111359000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr13:111357600-111359000	Active TSS	Fetal Kidney	kidney
39	chr13:111357800-111358200	Active TSS	Stomach Mucosa	stomach
40	chr13:111357800-111358600	Active TSS	Fetal Brain Male	brain
41	chr13:111357800-111358600	Active TSS	Fetal Muscle Trunk	muscle
42	chr13:111357800-111358800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr13:111357800-111358800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:111357800-111358800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr13:111357800-111358800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:111357800-111358800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:111357800-111358800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr13:111357800-111358800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr13:111357800-111358800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:111357800-111358800	Active TSS	Liver	Liver

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