Variant report

Variant	nsv525760
Chromosome Location	chr13:96176034-96186575
allele	n/a
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	ARID3A	chr13:96186164-96186478	HepG2	liver:	n/a	n/a
2	BACH1	chr13:96176765-96177073	K562	blood:	n/a	n/a
3	BHLHE40	chr13:96175892-96176102	K562	blood:	n/a	n/a
4	BHLHE40	chr13:96182514-96182651	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:96182450-96182720	MCF-7	breast:	n/a	n/a
6	CEBPB	chr13:96176483-96176829	IMR90	lung:	n/a	chr13:96176635-96176646 chr13:96176657-96176668
7	CEBPB	chr13:96182453-96182864	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr13:96182381-96182866	A549	lung:	n/a	n/a
9	CEBPB	chr13:96176509-96176774	K562	blood:	n/a	chr13:96176635-96176646 chr13:96176657-96176668
10	CEBPB	chr13:96182376-96182835	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr13:96182463-96182825	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr13:96176485-96176810	HepG2	liver:	n/a	chr13:96176635-96176646 chr13:96176657-96176668
13	CEBPB	chr13:96182479-96182793	A549	lung:	n/a	n/a
14	CEBPB	chr13:96182533-96182685	HepG2	liver:	n/a	n/a
15	CEBPB	chr13:96176472-96176829	Hela-S3	cervix:	n/a	chr13:96176635-96176646 chr13:96176657-96176668
16	CEBPB	chr13:96176482-96176822	A549	lung:	n/a	chr13:96176635-96176646 chr13:96176657-96176668
17	CEBPB	chr13:96182480-96182722	K562	blood:	n/a	n/a
18	CEBPB	chr13:96182467-96182814	HepG2	liver:	n/a	n/a
19	CEBPD	chr13:96182561-96182724	HepG2	liver:	n/a	chr13:96182637-96182648
20	CTCF	chr13:96182620-96182770	A549	lung:	n/a	n/a
21	CTCF	chr13:96182380-96182530	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr13:96182500-96182650	HMEC	breast:	n/a	n/a
23	CTCF	chr13:96182580-96182730	SAEC	small airway:	n/a	n/a
24	CTCF	chr13:96182572-96182737	Gliobla	brain:	n/a	n/a
25	CTCF	chr13:96182460-96182610	RPTEC	kidney:	n/a	n/a
26	CTCF	chr13:96182580-96182730	HEK293	kidney:	n/a	n/a
27	CTCF	chr13:96182600-96182750	HepG2	liver:	n/a	n/a
28	CTCF	chr13:96182340-96182490	HMEC	breast:	n/a	n/a
29	CTCF	chr13:96182520-96182670	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr13:96182520-96182670	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr13:96182598-96182729	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr13:96186000-96186150	RPTEC	kidney:	n/a	n/a
33	CTCF	chr13:96182660-96182810	HRE	kidney:	n/a	n/a
34	CTCF	chr13:96182420-96182570	HAc	cerebellar:	n/a	n/a
35	CTCF	chr13:96182600-96182890	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr13:96182640-96182660	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr13:96182620-96182770	HMEC	breast:	n/a	n/a
38	CTCF	chr13:96182580-96182730	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr13:96182500-96182650	HPF	lung:	n/a	n/a
40	CTCF	chr13:96182660-96182810	RPTEC	kidney:	n/a	n/a
41	CTCF	chr13:96182480-96182630	HRE	kidney:	n/a	n/a
42	CTCF	chr13:96182644-96182670	HepG2	liver:	n/a	n/a
43	E2F4	chr13:96182472-96182836	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr13:96176498-96176937	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr13:96180373-96180641	GM12878	blood:	n/a	n/a
46	ELK4	chr13:96182475-96182845	Hela-S3	cervix:	n/a	chr13:96182652-96182663
47	EP300	chr13:96186456-96186540	GM12878	blood:	n/a	n/a
48	EP300	chr13:96182272-96182965	ECC-1	luminal epithelium:	n/a	chr13:96182541-96182551
49	EP300	chr13:96182317-96182761	HepG2	liver:	n/a	chr13:96182541-96182551
50	EP300	chr13:96182391-96182815	SK-N-SH_RA	brain:	n/a	chr13:96182541-96182551

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96178008..96180996-chr13:96185734..96188672,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-2	chr13:96185952-96186164	ENSG00000223392
2	lnc-DZIP1-2	chr13:96185952-96186165	NONHSAT034762
3	lnc-DZIP1-2	chr13:96180746-96180841	ENSG00000223392
4	lnc-DZIP1-2	chr13:96180748-96180841	NONHSAT034762

Variant related genes	Relation type
CLDN10-AS1	TF binding region
ENSG00000223392	chromatin interactions

Extended variants
information (count: 428 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4506761	chr13:96176034-96176035	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35458901	chr13:96176107-96176108	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148620331	chr13:96176114-96176115	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs142055311	chr13:96176147-96176148	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs36034774	chr13:96176153-96176154	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566122489	chr13:96176181-96176182	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs538294068	chr13:96176230-96176231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552031238	chr13:96176294-96176295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373178276	chr13:96176298-96176299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35556246	chr13:96176320-96176321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35509467	chr13:96176323-96176324	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554720063	chr13:96176337-96176338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36014421	chr13:96176348-96176349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386380313	chr13:96176349-96176350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568162682	chr13:96176355-96176356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386380314	chr13:96176363-96176364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375681013	chr13:96176437-96176438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35859073	chr13:96176471-96176472	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553542686	chr13:96176521-96176522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573269165	chr13:96176551-96176552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189619492	chr13:96176562-96176563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559010801	chr13:96176575-96176576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575868036	chr13:96176576-96176577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147862443	chr13:96176623-96176624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9556486	chr13:96176681-96176682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs9516597	chr13:96176755-96176756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540320306	chr13:96176785-96176786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12868251	chr13:96176837-96176838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531965358	chr13:96176869-96176870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141389199	chr13:96176908-96176909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181771001	chr13:96176911-96176912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537523638	chr13:96176931-96176932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568533092	chr13:96176933-96176934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531586537	chr13:96176946-96176947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12016891	chr13:96176954-96176955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548195738	chr13:96176963-96176964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12868940	chr13:96176999-96177000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146986077	chr13:96177014-96177015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371115917	chr13:96177076-96177077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144764656	chr13:96177114-96177115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370827702	chr13:96177115-96177116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201296045	chr13:96177116-96177117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71292894	chr13:96177117-96177118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201877408	chr13:96177119-96177120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113535791	chr13:96177121-96177122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575559873	chr13:96177122-96177123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12018801	chr13:96177124-96177125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111970987	chr13:96177125-96177126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544880926	chr13:96177174-96177175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75054322	chr13:96177183-96177184	Weak transcription Enhancers	n/a	n/a	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96175800-96176200	Enhancers	Stomach Mucosa	stomach
2	chr13:96175800-96177000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr13:96175800-96177200	Enhancers	NHEK	skin
4	chr13:96176000-96176200	Enhancers	Pancreas	Pancrea
5	chr13:96176000-96176200	Bivalent Enhancer	Osteobl	bone
6	chr13:96176000-96176400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:96176000-96176600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:96176000-96177000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:96176000-96177000	Enhancers	HMEC	breast
10	chr13:96176200-96178000	Weak transcription	Stomach Mucosa	stomach
11	chr13:96176200-96182400	Weak transcription	Pancreas	Pancrea
12	chr13:96176400-96179400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:96176600-96177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:96176600-96177000	Enhancers	Hela-S3	cervix
15	chr13:96176600-96181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:96177000-96182200	Weak transcription	Hela-S3	cervix
17	chr13:96177000-96182200	Weak transcription	HMEC	breast
18	chr13:96177000-96182400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr13:96178000-96178200	Enhancers	Stomach Mucosa	stomach
20	chr13:96179400-96179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:96179800-96180000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:96181000-96181200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:96181200-96185800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:96181600-96183000	Enhancers	Primary hematopoietic stem cells	blood
25	chr13:96181600-96183000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:96181800-96183000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:96181800-96183000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:96181800-96183000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:96181800-96183200	Enhancers	HUVEC	blood vessel
30	chr13:96182000-96182400	Bivalent Enhancer	Osteobl	bone
31	chr13:96182000-96182600	Enhancers	NH-A	brain
32	chr13:96182200-96182400	Enhancers	HSMM	muscle
33	chr13:96182200-96182600	Enhancers	HSMMtube	muscle
34	chr13:96182200-96183000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:96182200-96183000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:96182200-96183000	Enhancers	Hela-S3	cervix
37	chr13:96182200-96183000	Enhancers	HMEC	breast
38	chr13:96182400-96182800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr13:96182400-96182800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr13:96182400-96182800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:96182400-96182800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:96182400-96182800	Enhancers	Aorta	Aorta
43	chr13:96182400-96182800	Enhancers	Fetal Lung	lung
44	chr13:96182400-96182800	Enhancers	HepG2	liver
45	chr13:96182400-96182800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr13:96182400-96183000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:96182400-96183000	Enhancers	Osteobl	bone
48	chr13:96182400-96183400	Enhancers	Pancreas	Pancrea
49	chr13:96182400-96185200	Enhancers	A549	lung
50	chr13:96182600-96182800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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