Variant report

Variant	esv3343078
Chromosome Location	chr13:53422886-53423183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:367)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:53422901-53423101	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr13:53422642-53423065	H1-hESC	embryonic stem cell:	n/a	chr13:53422780-53422790
3	CTBP2	chr13:53422505-53423298	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr13:53421886-53423054	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr13:53421904-53423203	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr13:53422624-53423038	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr13:53422134-53423148	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr13:53421857-53423279	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr13:53421876-53423196	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr13:53422422-53423366	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr13:53422438-53423075	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr13:53422439-53423069	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr13:53422596-53422893	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr13:53422522-53422964	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr13:53422302-53423115	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr13:53422151-53423511	H1-neurons	neurons:	n/a	chr13:53422864-53422877 chr13:53422984-53422998 chr13:53422986-53422996
17	REST	chr13:53422663-53426246	HL-60	blood:	n/a	chr13:53424040-53424053 chr13:53422864-53422877 chr13:53424988-53425001 chr13:53425721-53425731 chr13:53424411-53424421 chr13:53425716-53425729 chr13:53422984-53422998 chr13:53422986-53422996 chr13:53425719-53425733 chr13:53424936-53424945 chr13:53424047-53424057
18	REST	chr13:53422927-53423147	H1-hESC	embryonic stem cell:	n/a	chr13:53422984-53422998 chr13:53422986-53422996
19	SIN3A	chr13:53422223-53423300	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr13:53422592-53423060	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr13:53422630-53422907	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr13:53422527-53422895	H1-neurons	neurons:	n/a	n/a
23	TAF1	chr13:53422471-53422954	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr13:53422490-53423036	H1-neurons	neurons:	n/a	n/a
25	TBP	chr13:53422549-53423040	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr13:53422925-53423121	H1-hESC	embryonic stem cell:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53423132-53423182	SK-N-SH	brain:	n/a
2	chr13:53423132-53423182	SK-N-SH	brain:	n/a
3	chr13:53423078-53423128	A549	lung:	n/a
4	chr13:53423078-53423128	AoSMC	blood vessel:	n/a
5	chr13:53422847-53422897	MCF10A-Er-Src	breast:	n/a
6	chr13:53422860-53422910	NHDF-neo	bronchial:	n/a
7	chr13:53423132-53423182	GM12891	blood:	n/a
8	chr13:53423037-53423087	ProgFib	skin:	n/a
9	chr13:53422871-53422921	HEK293	kidney:	embryo
10	chr13:53422871-53422921	LNCaP	prostate:	n/a
11	chr13:53422860-53422910	AG10803	skin:	n/a
12	chr13:53422860-53422910	GM12891	blood:	n/a
13	chr13:53423078-53423128	HCM	heart:	n/a
14	chr13:53423037-53423087	PrEC	prostate:	n/a
15	chr13:53423037-53423087	H1-hESC	embryonic stem cell:	embryo
16	chr13:53423078-53423128	MCF-7	breast:	n/a
17	chr13:53422860-53422910	HCT-116	colon:	n/a
18	chr13:53422860-53422910	GM12892	blood:	n/a
19	chr13:53422871-53422921	SK-N-MC	brain:	n/a
20	chr13:53422871-53422921	AG09309	skin:	n/a
21	chr13:53422871-53422921	NH-A	brain:	n/a
22	chr13:53423078-53423128	HCT-116	colon:	n/a
23	chr13:53423078-53423128	GM12878	blood:	n/a
24	chr13:53423037-53423087	HNPCEpiC	eye:	n/a
25	chr13:53423078-53423128	HMEC	breast:	n/a
26	chr13:53423078-53423128	HUVEC	blood vessel:	n/a
27	chr13:53423037-53423087	SK-N-SH_RA	brain:	n/a
28	chr13:53422860-53422910	GM19239	blood:	n/a
29	chr13:53422860-53422910	ProgFib	skin:	n/a
30	chr13:53422871-53422921	Jurkat	blood:	n/a
31	chr13:53423037-53423087	HEK293	kidney:	embryo
32	chr13:53422847-53422897	HNPCEpiC	eye:	n/a
33	chr13:53422871-53422921	HPAEpiC	pulmonary alveolar:	n/a
34	chr13:53423037-53423087	HRPEpiC	eye:	n/a
35	chr13:53423078-53423128	HAEpiC	amniotic membrane:	n/a
36	chr13:53423132-53423182	HCPEpiC	choroid plexus:	n/a
37	chr13:53422860-53422910	HEEpiC	esophagus:	n/a
38	chr13:53423078-53423128	ProgFib	skin:	n/a
39	chr13:53422860-53422910	ECC-1	luminal epithelium:	n/a
40	chr13:53422860-53422910	PFSK-1	brain:	n/a
41	chr13:53423078-53423128	U87	brain:	n/a
42	chr13:53423132-53423182	BE2_C	brain:	n/a
43	chr13:53422871-53422921	AG10803	skin:	n/a
44	chr13:53422860-53422910	HL-60	blood:	n/a
45	chr13:53422847-53422897	IMR90	lung:	fetal
46	chr13:53423037-53423087	U87	brain:	n/a
47	chr13:53423078-53423128	SK-N-SH	brain:	n/a
48	chr13:53423132-53423182	SAEC	small airway:	n/a
49	chr13:53422860-53422910	MCF10A-Er-Src	breast:	n/a
50	chr13:53423132-53423182	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53422829..53424558-chr13:53771804..53774307,2	MCF-7	breast:
2	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:

No data

Variant related genes	Relation type
PCDH8	TF binding region
PCDH8	CpG island
ENSG00000225510	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 111 )

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	rs571662431	chr13:53422897-53422898	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576223045	chr13:53422936-53422937	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533103579	chr13:53422940-53422941	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141052946	chr13:53422943-53422944	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9596694	chr13:53422949-53422950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80258727	chr13:53422952-53422953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs59533630	chr13:53422976-53422977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555744611	chr13:53423047-53423048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568860051	chr13:53423079-53423080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs693209	chr13:53423105-53423106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557786748	chr13:53423133-53423134	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577683473	chr13:53423145-53423146	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53419400-53423000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr13:53419400-53423200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr13:53419400-53423200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr13:53419400-53423200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr13:53419600-53424400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr13:53420000-53423200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:53420000-53424000	ZNF genes & repeats	GM12878-XiMat	blood
8	chr13:53420800-53423400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:53421000-53423200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr13:53421000-53423400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr13:53421200-53424800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr13:53421400-53423000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:53421400-53424400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
14	chr13:53421600-53423200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:53421600-53424400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr13:53421800-53426200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr13:53422000-53423000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr13:53422000-53423400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr13:53422000-53423400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
20	chr13:53422200-53423000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:53422200-53423200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr13:53422200-53424600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr13:53422400-53423000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:53422400-53423000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
25	chr13:53422400-53423000	Active TSS	Fetal Brain Female	brain
26	chr13:53422400-53423000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr13:53422400-53423200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:53422400-53423200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:53422400-53423200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:53422400-53423200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr13:53422400-53423200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr13:53422400-53424400	Bivalent Enhancer	Fetal Thymus	thymus
33	chr13:53422600-53423000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:53422600-53423000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:53422600-53423000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr13:53422600-53423000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:53422600-53423000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr13:53422600-53423000	Bivalent Enhancer	Brain Angular Gyrus	brain
39	chr13:53422600-53423000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
40	chr13:53422600-53423000	Active TSS	Fetal Brain Male	brain
41	chr13:53422600-53424400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:53422600-53424600	Weak transcription	Gastric	stomach
43	chr13:53422600-53424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr13:53422600-53424800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:53422800-53423000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr13:53422800-53423000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:53422800-53423200	Bivalent Enhancer	Esophagus	oesophagus
48	chr13:53422800-53423400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:53422800-53423400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
50	chr13:53422800-53424400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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