Variant report

Variant	nsv562789
Chromosome Location	chr13:96742436-96743122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr13:96742349-96742595	H1-hESC	embryonic stem cell:	n/a	chr13:96742482-96742492
2	CTBP2	chr13:96742943-96744222	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr13:96742083-96742625	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr13:96742190-96742904	H1-hESC	embryonic stem cell:	n/a	chr13:96742303-96742310 chr13:96742302-96742310
5	E2F6	chr13:96742909-96743319	H1-hESC	embryonic stem cell:	n/a	chr13:96742928-96742938
6	FOXA1	chr13:96742188-96742499	T-47D	breast:	n/a	n/a
7	HMGN3	chr13:96742924-96743060	K562	blood:	n/a	n/a
8	MAX	chr13:96742124-96742661	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr13:96742123-96742917	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr13:96742094-96743289	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr13:96742133-96742806	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr13:96742155-96742599	MCF-7	breast:	n/a	n/a
13	MXI1	chr13:96742242-96742520	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr13:96743119-96743195	MCF-7	breast:	n/a	n/a
15	MYC	chr13:96742308-96742531	MCF-7	breast:	n/a	n/a
16	NFIC	chr13:96742138-96742624	ECC-1	luminal epithelium:	n/a	chr13:96742179-96742196
17	POLR2A	chr13:96742047-96742707	MCF-7	breast:	n/a	n/a
18	POLR2A	chr13:96742050-96742667	MCF-7	breast:	n/a	n/a
19	POLR2A	chr13:96742192-96742592	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr13:96742147-96742444	ProgFib	skin:	n/a	n/a
21	POLR2A	chr13:96742117-96742568	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr13:96742144-96742623	HEK293	kidney:	n/a	n/a
23	POLR2A	chr13:96742201-96742553	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr13:96742332-96742493	Gliobla	brain:	n/a	n/a
25	POLR2A	chr13:96741910-96742583	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr13:96742031-96744213	MCF-7	breast:	n/a	n/a
27	RAD21	chr13:96741992-96742438	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr13:96742048-96743208	H1-hESC	embryonic stem cell:	n/a	chr13:96742718-96742729
29	TAF1	chr13:96742216-96742480	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBP	chr13:96742108-96742559	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBP	chr13:96742925-96743032	H1-hESC	embryonic stem cell:	n/a	n/a
32	UBTF	chr13:96742459-96742469	K562	blood:	n/a	n/a
33	UBTF	chr13:96742704-96742852	K562	blood:	n/a	n/a
34	ZNF143	chr13:96742084-96742597	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF263	chr13:96741220-96743141	HEK293-T-REx	kidney:	n/a	chr13:96742265-96742274 chr13:96742224-96742245

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:96743087-96743137	NHBE	bronchial:	n/a
2	chr13:96742413-96742463	K562	blood:	n/a
3	chr13:96742421-96742471	NHBE	bronchial:	n/a
4	chr13:96742413-96742463	Hela-S3	cervix:	n/a
5	chr13:96742421-96742471	HCPEpiC	choroid plexus:	n/a
6	chr13:96742413-96742463	ProgFib	skin:	n/a
7	chr13:96742905-96742955	NT2-D1	testis:	n/a
8	chr13:96743087-96743137	BJ	skin:	n/a
9	chr13:96742421-96742471	HepG2	liver:	n/a
10	chr13:96743110-96743160	RPTEC	kidney:	n/a
11	chr13:96742905-96742955	GM19239	blood:	n/a
12	chr13:96742413-96742463	HCF	heart:	n/a
13	chr13:96742413-96742463	H1-hESC	embryonic stem cell:	embryo
14	chr13:96742413-96742463	Jurkat	blood:	n/a
15	chr13:96742421-96742471	BJ	skin:	n/a
16	chr13:96742905-96742955	RPTEC	kidney:	n/a
17	chr13:96742413-96742463	LNCaP	prostate:	n/a
18	chr13:96743087-96743137	T-47D	breast:	n/a
19	chr13:96743110-96743160	CMK	blood:	n/a
20	chr13:96742421-96742471	HIPEpiC	eye:	n/a
21	chr13:96742413-96742463	HRCEpiC	kidney:	n/a
22	chr13:96743110-96743160	HepG2	liver:	n/a
23	chr13:96743110-96743160	HCPEpiC	choroid plexus:	n/a
24	chr13:96743110-96743160	AoSMC	blood vessel:	n/a
25	chr13:96742905-96742955	HNPCEpiC	eye:	n/a
26	chr13:96742421-96742471	SK-N-MC	brain:	n/a
27	chr13:96743087-96743137	AoSMC	blood vessel:	n/a
28	chr13:96743087-96743137	MCF-7	breast:	n/a
29	chr13:96743110-96743160	MCF10A-Er-Src	breast:	n/a
30	chr13:96742905-96742955	HMEC	breast:	n/a
31	chr13:96743110-96743160	A549	lung:	n/a
32	chr13:96742905-96742955	HRE	kidney:	n/a
33	chr13:96743110-96743160	Hela-S3	cervix:	n/a
34	chr13:96742413-96742463	HEK293	kidney:	embryo
35	chr13:96743087-96743137	RPTEC	kidney:	n/a
36	chr13:96742421-96742471	IMR90	lung:	fetal
37	chr13:96743087-96743137	AG04449	skin:	fetal
38	chr13:96743087-96743137	GM12878	blood:	n/a
39	chr13:96743110-96743160	Jurkat	blood:	n/a
40	chr13:96742905-96742955	GM12878	blood:	n/a
41	chr13:96742905-96742955	HEEpiC	esophagus:	n/a
42	chr13:96743087-96743137	U87	brain:	n/a
43	chr13:96742413-96742463	MCF10A-Er-Src	breast:	n/a
44	chr13:96742905-96742955	PrEC	prostate:	n/a
45	chr13:96742905-96742955	MCF10A-Er-Src	breast:	n/a
46	chr13:96742421-96742471	LNCaP	prostate:	n/a
47	chr13:96742413-96742463	A549	lung:	n/a
48	chr13:96742905-96742955	CMK	blood:	n/a
49	chr13:96743087-96743137	ovcar-3	ovarian:	n/a
50	chr13:96743087-96743137	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96705694..96707387-chr13:96740919..96743720,3	MCF-7	breast:

No data

Variant related genes	Relation type
HS6ST3	TF binding region
HS6ST3	CpG island
ENSG00000102595	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555987139	chr13:96742441-96742442	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575823438	chr13:96742451-96742452	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372521314	chr13:96742539-96742540	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181704452	chr13:96742583-96742584	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555050103	chr13:96742607-96742608	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574811179	chr13:96742923-96742924	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540639954	chr13:96742935-96742936	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560487047	chr13:96742967-96742968	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532887044	chr13:96743030-96743031	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546519533	chr13:96743056-96743057	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371711263	chr13:96743078-96743079	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374980204	chr13:96743081-96743082	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200303345	chr13:96743095-96743096	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368514301	chr13:96743099-96743100	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96741600-96742600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr13:96741600-96744200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr13:96741800-96742600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:96741800-96742600	Flanking Active TSS	Pancreas	Pancrea
6	chr13:96741800-96742600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
7	chr13:96741800-96743200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:96741800-96743400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr13:96741800-96743400	Bivalent/Poised TSS	Right Ventricle	heart
10	chr13:96741800-96743600	Active TSS	Brain Substantia Nigra	brain
11	chr13:96741800-96744000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:96741800-96744400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr13:96741800-96744400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr13:96741800-96744400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr13:96741800-96744600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:96741800-96744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr13:96741800-96746000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr13:96742000-96742600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:96742000-96742600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr13:96742000-96742600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:96742000-96742600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:96742000-96742600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr13:96742000-96742600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr13:96742000-96742600	Bivalent Enhancer	Spleen	Spleen
25	chr13:96742000-96742800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:96742000-96742800	Flanking Bivalent TSS/Enh	HMEC	breast
27	chr13:96742000-96743200	Bivalent/Poised TSS	Osteobl	bone
28	chr13:96742000-96743400	Bivalent/Poised TSS	NHLF	lung
29	chr13:96742000-96743600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:96742000-96743600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:96742000-96743800	Bivalent/Poised TSS	A549	lung
32	chr13:96742000-96743800	Bivalent/Poised TSS	HSMM	muscle
33	chr13:96742000-96744000	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr13:96742000-96744200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:96742000-96744200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr13:96742000-96744200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr13:96742000-96744200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:96742000-96744200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr13:96742000-96744400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr13:96742000-96744400	Active TSS	Aorta	Aorta
41	chr13:96742200-96742600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr13:96742200-96742600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:96742200-96742600	Flanking Active TSS	Liver	Liver
44	chr13:96742200-96742600	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr13:96742200-96742800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:96742200-96743200	Bivalent/Poised TSS	HSMMtube	muscle
47	chr13:96742200-96743400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:96742200-96743400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:96742200-96743400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr13:96742200-96743400	Active TSS	Fetal Brain Female	brain

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