Variant report

Variant	nsv826721
Chromosome Location	chr13:76589453-76592035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr13:76591086-76591286	GM12878	blood:	n/a	n/a
2	BHLHE40	chr13:76591133-76591336	K562	blood:	n/a	n/a
3	CBX3	chr13:76590994-76591244	K562	blood:	n/a	n/a
4	CEBPB	chr13:76590619-76590644	HepG2	liver:	n/a	chr13:76590627-76590638
5	CEBPB	chr13:76591172-76591390	K562	blood:	n/a	n/a
6	CHD1	chr13:76591072-76591202	GM12878	blood:	n/a	n/a
7	CHD2	chr13:76591121-76591144	GM12878	blood:	n/a	n/a
8	CTCF	chr13:76590883-76591343	HCT-116	colon:	n/a	n/a
9	CTCF	chr13:76590660-76590810	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr13:76591246-76591369	GM19240	blood:	n/a	n/a
11	CTCF	chr13:76590564-76591400	A549	lung:	n/a	n/a
12	CTCF	chr13:76591060-76591210	WI-38	lung:	n/a	n/a
13	CTCF	chr13:76591080-76591230	GM06990	blood:	n/a	n/a
14	CTCF	chr13:76591060-76591210	HMEC	breast:	n/a	n/a
15	CTCF	chr13:76591060-76591210	AG09309	skin:	n/a	n/a
16	CTCF	chr13:76591040-76591190	HCFaa	heart:	n/a	n/a
17	CTCF	chr13:76591060-76591210	NHLF	lung:	n/a	n/a
18	CTCF	chr13:76591040-76591190	HL-60	blood:	n/a	n/a
19	CTCF	chr13:76591060-76591210	AG09319	gingival:	n/a	n/a
20	CTCF	chr13:76591001-76591276	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr13:76590960-76591308	IMR90	lung:	n/a	n/a
22	CTCF	chr13:76591060-76591210	BE2_C	brain:	n/a	n/a
23	CTCF	chr13:76591060-76591210	HCT-116	colon:	n/a	n/a
24	CTCF	chr13:76591100-76591250	HepG2	liver:	n/a	n/a
25	CTCF	chr13:76591060-76591210	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr13:76591033-76591147	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:76591040-76591190	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr13:76591060-76591210	K562	blood:	n/a	n/a
29	CTCF	chr13:76591040-76591190	NHEK	skin:	n/a	n/a
30	CTCF	chr13:76591000-76591150	AG09309	skin:	n/a	n/a
31	CTCF	chr13:76591080-76591230	AG09319	gingival:	n/a	n/a
32	CTCF	chr13:76591040-76591190	GM12866	blood:	n/a	n/a
33	CTCF	chr13:76590920-76591070	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr13:76590894-76591354	GM12878	blood:	n/a	n/a
35	CTCF	chr13:76591040-76591190	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr13:76591420-76591570	HVMF	connective:	n/a	n/a
37	CTCF	chr13:76591003-76591269	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:76591080-76591230	GM12875	blood:	n/a	n/a
39	CTCF	chr13:76590860-76591010	A549	lung:	n/a	n/a
40	CTCF	chr13:76591060-76591210	Caco-2	colon:	n/a	n/a
41	CTCF	chr13:76591380-76591530	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr13:76590670-76591513	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr13:76590996-76591204	Fibrobl	skin:	n/a	n/a
44	CTCF	chr13:76591040-76591190	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr13:76591080-76591230	AG10803	skin:	n/a	n/a
46	CTCF	chr13:76591060-76591210	GM12873	blood:	n/a	n/a
47	CTCF	chr13:76591020-76591170	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr13:76590908-76591419	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:76591080-76591230	RPTEC	kidney:	n/a	n/a
50	CTCF	chr13:76591060-76591210	AoAF	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:76450119..76450751-chr13:76590749..76591620,4	MCF-7	breast:
2	chr13:76450221..76451145-chr13:76590691..76591575,2	K562	blood:
3	chr13:76450462..76451207-chr13:76591002..76591569,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC01034	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552486998	chr13:76589508-76589509	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564431728	chr13:76589509-76589510	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528707230	chr13:76589538-76589539	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4606584	chr13:76589586-76589587	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9530506	chr13:76589605-76589606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535173312	chr13:76589608-76589609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143294312	chr13:76589674-76589675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73215669	chr13:76589702-76589703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190347829	chr13:76589703-76589704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147520854	chr13:76589716-76589717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148138978	chr13:76589727-76589728	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533989032	chr13:76589728-76589729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555569518	chr13:76589778-76589779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574899725	chr13:76589808-76589809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541989373	chr13:76589843-76589844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563788029	chr13:76589887-76589888	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs141919982	chr13:76589898-76589899	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544920978	chr13:76589899-76589900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373550148	chr13:76589979-76589980	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs202123286	chr13:76589990-76589991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552058842	chr13:76589998-76589999	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564443895	chr13:76590036-76590037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533397661	chr13:76590040-76590041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150538084	chr13:76590107-76590108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563217565	chr13:76590124-76590125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11618070	chr13:76590185-76590186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369650597	chr13:76590191-76590192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529473244	chr13:76590199-76590200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139496606	chr13:76590205-76590206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75156254	chr13:76590209-76590210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532958025	chr13:76590219-76590220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551353027	chr13:76590234-76590235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566791271	chr13:76590254-76590255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559964577	chr13:76590274-76590275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143186890	chr13:76590278-76590279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555615800	chr13:76590303-76590304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567384887	chr13:76590332-76590333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181900270	chr13:76590345-76590346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557222754	chr13:76590373-76590374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146175771	chr13:76590374-76590375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377498148	chr13:76590418-76590419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545803094	chr13:76590471-76590472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569090203	chr13:76590519-76590520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111277735	chr13:76590534-76590535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572879618	chr13:76590535-76590536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540558522	chr13:76590556-76590557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144146222	chr13:76590569-76590570	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566312128	chr13:76590632-76590633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs17065479	chr13:76590684-76590685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs115933825	chr13:76590724-76590725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76584600-76593800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:76586000-76590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:76587400-76589800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr13:76587600-76590200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:76588400-76589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:76588400-76589600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76588400-76589600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:76588400-76589600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:76588400-76589800	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:76588400-76589800	Enhancers	HMEC	breast
11	chr13:76588400-76590000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:76588600-76589800	Enhancers	Brain Hippocampus Middle	brain
13	chr13:76589200-76589800	Enhancers	Fetal Lung	lung
14	chr13:76589400-76589800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:76589400-76589800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:76589400-76589800	Enhancers	Brain Substantia Nigra	brain
17	chr13:76589400-76589800	Flanking Active TSS	Fetal Heart	heart
18	chr13:76589400-76589800	Enhancers	NH-A	brain
19	chr13:76589400-76593200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:76589400-76593400	Weak transcription	Brain Angular Gyrus	brain
21	chr13:76589400-76593600	Weak transcription	Aorta	Aorta
22	chr13:76589400-76593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:76589400-76601400	Weak transcription	K562	blood
24	chr13:76589600-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:76589800-76590400	Enhancers	Fetal Heart	heart
26	chr13:76589800-76593200	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:76589800-76593200	Weak transcription	Brain Substantia Nigra	brain
28	chr13:76589800-76594000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:76589800-76594800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:76589800-76594800	Weak transcription	HMEC	breast
31	chr13:76589800-76596800	Weak transcription	Fetal Lung	lung
32	chr13:76590200-76592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:76591000-76591200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:76591200-76591600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:76591600-76592200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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