Variant report

Variant	rs545958572
Chromosome Location	chr13:96706134-96706135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:96704954-96706214	GM19099	blood:	n/a	n/a
2	MAX	chr13:96704997-96706254	A549	lung:	n/a	n/a
3	POLR2A	chr13:96705436-96706206	HCT-116	colon:	n/a	n/a
4	SP1	chr13:96705749-96706153	H1-hESC	embryonic stem cell:	n/a	chr13:96705902-96705913
5	CHD2	chr13:96705624-96706308	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:96705371-96706230	HCT-116	colon:	n/a	n/a
7	MAX	chr13:96704872-96706271	HCT-116	colon:	n/a	n/a
8	TCF7L2	chr13:96705164-96706293	HCT-116	colon:	n/a	n/a
9	POLR2A	chr13:96705277-96706234	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr13:96704770-96706282	MCF10A-Er-Src	breast:	n/a	n/a
11	HCFC1	chr13:96704383-96706135	Hela-S3	cervix:	n/a	n/a
12	E2F4	chr13:96704914-96706184	MCF10A-Er-Src	breast:	n/a	chr13:96705903-96705915 chr13:96705637-96705648 chr13:96705802-96705812 chr13:96705711-96705720
13	SMARCB1	chr13:96705162-96706150	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr13:96705278-96706286	MCF-7	breast:	n/a	n/a
15	POLR2A	chr13:96705122-96706143	Gliobla	brain:	n/a	n/a
16	SP1	chr13:96705371-96706146	A549	lung:	n/a	chr13:96705902-96705913
17	HMGN3	chr13:96705122-96706269	K562	blood:	n/a	n/a
18	MAZ	chr13:96704967-96706161	K562	blood:	n/a	n/a
19	BRCA1	chr13:96705537-96706241	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr13:96705056-96706199	ECC-1	luminal epithelium:	n/a	n/a
21	TCF12	chr13:96705275-96706272	ECC-1	luminal epithelium:	n/a	n/a
22	ELF1	chr13:96705113-96706256	HCT-116	colon:	n/a	chr13:96705658-96705671
23	POLR2A	chr13:96704762-96706157	U87	brain:	n/a	n/a
24	MAX	chr13:96705252-96706266	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr13:96705407-96706141	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZEB1	chr13:96705530-96706228	GM12878	blood:	n/a	n/a
27	POLR2A	chr13:96705368-96706233	HCT-116	colon:	n/a	n/a
28	POLR2A	chr13:96705422-96706214	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr13:96705239-96706276	MCF-7	breast:	n/a	n/a
30	POLR2A	chr13:96705420-96706162	U87	brain:	n/a	n/a
31	CHD2	chr13:96705473-96706236	Hela-S3	cervix:	n/a	n/a
32	PML	chr13:96705832-96706155	MCF-7	breast:	n/a	n/a
33	POLR2A	chr13:96705062-96706145	GM18951	blood:	n/a	n/a
34	POLR2A	chr13:96704938-96706302	GM12892	blood:	n/a	n/a
35	POLR2A	chr13:96705326-96706245	ECC-1	luminal epithelium:	n/a	n/a
36	TCF7L2	chr13:96705860-96706145	MCF-7	breast:	n/a	n/a
37	POLR2A	chr13:96705307-96706162	HUVEC	blood vessel:	n/a	n/a
38	TCF12	chr13:96705281-96706165	A549	lung:	n/a	n/a
39	MAX	chr13:96704906-96706225	HCT-116	colon:	n/a	n/a
40	POLR2A	chr13:96704655-96706295	IMR90	lung:	n/a	n/a
41	TBP	chr13:96705500-96706279	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr13:96705192-96706254	MCF-7	breast:	n/a	n/a
43	POLR2A	chr13:96704984-96706202	GM12878	blood:	n/a	n/a
44	TAF1	chr13:96705322-96706255	ECC-1	luminal epithelium:	n/a	n/a
45	REST	chr13:96704806-96706189	H1-neurons	neurons:	n/a	chr13:96705873-96705893 chr13:96705392-96705405 chr13:96705748-96705761
46	POLR2A	chr13:96704923-96706198	Hela-S3	cervix:	n/a	n/a
47	PML	chr13:96704804-96706186	GM12878	blood:	n/a	n/a
48	POLR2A	chr13:96705322-96706172	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr13:96706095-96706166	MCF10A-Er-Src	breast:	n/a	n/a
50	CHD2	chr13:96705475-96706187	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96706104-96706154	ovcar-3	ovarian:	n/a
2	chr13:96706104-96706154	LNCaP	prostate:	n/a
3	chr13:96706104-96706154	RPTEC	kidney:	n/a
4	chr13:96706104-96706154	Hepatocyte	liver:	n/a
5	chr13:96706104-96706154	HEK293	kidney:	embryo
6	chr13:96706104-96706154	AG09309	skin:	n/a
7	chr13:96706104-96706154	NB4	blood:	n/a
8	chr13:96706104-96706154	HEEpiC	esophagus:	n/a
9	chr13:96706104-96706154	PrEC	prostate:	n/a
10	chr13:96706104-96706154	IMR90	lung:	fetal
11	chr13:96706104-96706154	NT2-D1	testis:	n/a
12	chr13:96706104-96706154	HCM	heart:	n/a
13	chr13:96706104-96706154	Jurkat	blood:	n/a
14	chr13:96706104-96706154	NHBE	bronchial:	n/a
15	chr13:96706104-96706154	SK-N-SH_RA	brain:	n/a
16	chr13:96706104-96706154	A549	lung:	n/a
17	chr13:96706104-96706154	SK-N-SH	brain:	n/a
18	chr13:96706104-96706154	U87	brain:	n/a
19	chr13:96706104-96706154	AG09319	gingival:	n/a
20	chr13:96706104-96706154	H1-hESC	embryonic stem cell:	embryo
21	chr13:96706104-96706154	Caco-2	colon:	n/a
22	chr13:96706104-96706154	ECC-1	luminal epithelium:	n/a
23	chr13:96706104-96706154	AG04450	lung:	fetal
24	chr13:96706104-96706154	HAEpiC	amniotic membrane:	n/a
25	chr13:96706104-96706154	HCF	heart:	n/a
26	chr13:96706104-96706154	PANC-1	pancreas:	n/a
27	chr13:96706104-96706154	GM19239	blood:	n/a
28	chr13:96706104-96706154	HMEC	breast:	n/a
29	chr13:96706104-96706154	GM12878	blood:	n/a
30	chr13:96706104-96706154	HPAEpiC	pulmonary alveolar:	n/a
31	chr13:96706104-96706154	SAEC	small airway:	n/a
32	chr13:96706104-96706154	GM12891	blood:	n/a
33	chr13:96706104-96706154	HRCEpiC	kidney:	n/a
34	chr13:96706104-96706154	NH-A	brain:	n/a
35	chr13:96706104-96706154	SKMC	muscle:	n/a
36	chr13:96706104-96706154	HRPEpiC	eye:	n/a
37	chr13:96706104-96706154	PFSK-1	brain:	n/a
38	chr13:96706104-96706154	HepG2	liver:	n/a
39	chr13:96706104-96706154	GM12892	blood:	n/a
40	chr13:96706104-96706154	HCT-116	colon:	n/a
41	chr13:96706104-96706154	AoSMC	blood vessel:	n/a
42	chr13:96706104-96706154	ProgFib	skin:	n/a
43	chr13:96706104-96706154	MCF-7	breast:	n/a
44	chr13:96706104-96706154	AG10803	skin:	n/a
45	chr13:96706104-96706154	HCPEpiC	choroid plexus:	n/a
46	chr13:96706104-96706154	HL-60	blood:	n/a
47	chr13:96706104-96706154	T-47D	breast:	n/a
48	chr13:96706104-96706154	HRE	kidney:	n/a
49	chr13:96706104-96706154	HIPEpiC	eye:	n/a
50	chr13:96706104-96706154	NHDF-neo	bronchial:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:96705350..96706193-chr15:72520336..72521147,2	Hela-S3	cervix:
2	chr13:96705694..96707387-chr13:96740919..96743720,3	MCF-7	breast:
3	chr1:236958210..236959010-chr13:96705467..96706161,2	Hela-S3	cervix:
4	chr13:96705761..96707656-chr13:96724280..96725801,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGGT2	TF binding region
UGGT2	CpG island
ENSG00000116984	Chromatin interaction
ENSG00000185352	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv530390	chr13:96681439-97193029	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv900936	chr13:96697209-97032483	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3390792	chr13:96705451-96707499	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96703800-96706200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:96704000-96706400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:96704200-96706200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:96704200-96706200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr13:96704200-96707000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr13:96704400-96706200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:96704400-96706200	Active TSS	Fetal Kidney	kidney
8	chr13:96704400-96706200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr13:96704400-96707200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr13:96704600-96706200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr13:96704600-96706200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:96704600-96706200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr13:96704600-96706200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:96704600-96706200	Active TSS	Brain Hippocampus Middle	brain
15	chr13:96704600-96706200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:96704600-96706200	Active TSS	Psoas Muscle	Psoas
17	chr13:96704600-96706200	Active TSS	Rectal Smooth Muscle	rectum
18	chr13:96704600-96706200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr13:96704600-96706200	Active TSS	A549	lung
20	chr13:96704600-96706200	Active TSS	K562	blood
21	chr13:96704600-96706200	Active TSS	NHDF-Ad	bronchial
22	chr13:96704600-96706400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr13:96704600-96706400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr13:96704600-96706400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr13:96704600-96706600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr13:96704600-96706600	Active TSS	HMEC	breast
27	chr13:96704600-96706600	Active TSS	NHEK	skin
28	chr13:96704600-96706800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr13:96704800-96706200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:96704800-96706200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:96704800-96706200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:96704800-96706200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:96704800-96706200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:96704800-96706200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:96704800-96706200	Active TSS	Aorta	Aorta
36	chr13:96704800-96706200	Active TSS	Brain Substantia Nigra	brain
37	chr13:96704800-96706200	Active TSS	Duodenum Mucosa	Duodenum
38	chr13:96704800-96706200	Active TSS	Fetal Brain Male	brain
39	chr13:96704800-96706200	Active TSS	Fetal Lung	lung
40	chr13:96704800-96706200	Active TSS	Fetal Stomach	stomach
41	chr13:96704800-96706200	Active TSS	Ovary	ovary
42	chr13:96704800-96706200	Active TSS	Right Atrium	heart
43	chr13:96704800-96706200	Active TSS	Right Ventricle	heart
44	chr13:96704800-96706200	Bivalent/Poised TSS	Thymus	Thymus
45	chr13:96704800-96706200	Active TSS	HSMM	muscle
46	chr13:96704800-96706400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:96704800-96706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:96704800-96706400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr13:96704800-96706400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:96704800-96706400	Active TSS	Colonic Mucosa	Colon

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