Variant report

Variant	nsv524855
Chromosome Location	chr13:96035883-96047924
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	ATF2	chr13:96039455-96039980	GM12878	blood:	n/a	n/a
2	BACH1	chr13:96038079-96038398	K562	blood:	n/a	n/a
3	BATF	chr13:96038573-96038973	GM12878	blood:	n/a	n/a
4	BATF	chr13:96038683-96038941	GM12878	blood:	n/a	n/a
5	BCL11A	chr13:96039640-96039821	GM12878	blood:	n/a	n/a
6	BCL11A	chr13:96039643-96039842	GM12878	blood:	n/a	n/a
7	BCLAF1	chr13:96039501-96040000	GM12878	blood:	n/a	n/a
8	BHLHE40	chr13:96038124-96038391	K562	blood:	n/a	n/a
9	BHLHE40	chr13:96039637-96039901	GM12878	blood:	n/a	n/a
10	BHLHE40	chr13:96040991-96041295	GM12878	blood:	n/a	n/a
11	CEBPB	chr13:96038032-96038368	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr13:96042665-96042694	HepG2	liver:	n/a	n/a
13	CHD2	chr13:96038079-96038268	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr13:96038192-96038373	K562	blood:	n/a	n/a
15	CTCF	chr13:96038239-96038387	K562	blood:	n/a	n/a
16	CTCF	chr13:96038260-96038343	Hela-S3	cervix:	n/a	n/a
17	EBF1	chr13:96040995-96041331	GM12878	blood:	n/a	chr13:96041146-96041157
18	EBF1	chr13:96039631-96040064	GM12878	blood:	n/a	chr13:96040038-96040051 chr13:96040039-96040049 chr13:96040040-96040050 chr13:96040040-96040049
19	EBF1	chr13:96040947-96041550	GM12878	blood:	n/a	chr13:96041146-96041157
20	EBF1	chr13:96040934-96041274	GM12878	blood:	n/a	chr13:96041146-96041157
21	EP300	chr13:96041018-96041183	GM12878	blood:	n/a	n/a
22	EP300	chr13:96041106-96041308	GM12878	blood:	n/a	n/a
23	EP300	chr13:96039628-96039912	GM12878	blood:	n/a	n/a
24	EP300	chr13:96040264-96040374	GM12878	blood:	n/a	n/a
25	EP300	chr13:96038022-96038351	Hela-S3	cervix:	n/a	n/a
26	EP300	chr13:96039704-96039880	GM12878	blood:	n/a	n/a
27	EP300	chr13:96039638-96039882	GM12878	blood:	n/a	n/a
28	EP300	chr13:96041100-96041667	GM12878	blood:	n/a	n/a
29	EP300	chr13:96037822-96037855	K562	blood:	n/a	n/a
30	FOS	chr13:96038156-96038389	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr13:96037190-96037197	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr13:96038138-96038340	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr13:96038132-96038391	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr13:96038204-96038401	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXM1	chr13:96039542-96039914	GM12878	blood:	n/a	n/a
36	GABPA	chr13:96039616-96039976	HL-60	blood:	n/a	n/a
37	GTF2F1	chr13:96038026-96038231	Hela-S3	cervix:	n/a	n/a
38	IKZF1	chr13:96038874-96038981	GM12878	blood:	n/a	n/a
39	IKZF1	chr13:96039633-96039835	GM12878	blood:	n/a	n/a
40	JUND	chr13:96038069-96038446	Hela-S3	cervix:	n/a	n/a
41	JUND	chr13:96037019-96037315	K562	blood:	n/a	n/a
42	JUND	chr13:96038059-96038457	K562	blood:	n/a	n/a
43	MAFF	chr13:96038088-96038436	K562	blood:	n/a	n/a
44	MAFK	chr13:96038159-96038359	HepG2	liver:	n/a	n/a
45	MAFK	chr13:96038129-96038366	Hela-S3	cervix:	n/a	n/a
46	MAFK	chr13:96037853-96038428	K562	blood:	n/a	n/a
47	MAFK	chr13:96038235-96038320	HepG2	liver:	n/a	n/a
48	MAX	chr13:96039721-96039826	GM12878	blood:	n/a	n/a
49	MAX	chr13:96039696-96039734	NB4	blood:	n/a	n/a
50	MAX	chr13:96038038-96038349	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLDN10-3	chr13:96046303-96046708	NONHSAT034759

Variant related genes	Relation type
MEMO1P5	TF binding region

Extended variants
information (count: 421 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:421 , 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	rs7982352	chr13:96035883-96035884	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186946336	chr13:96035917-96035918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529349929	chr13:96035926-96035927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145099849	chr13:96035969-96035970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9524957	chr13:96035970-96035971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76709680	chr13:96035976-96035977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113930130	chr13:96035977-96035978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565711319	chr13:96035991-96035992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534715559	chr13:96036037-96036038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115751111	chr13:96036094-96036095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12584767	chr13:96036129-96036130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111841993	chr13:96036136-96036137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149726030	chr13:96036204-96036205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574160929	chr13:96036273-96036274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536297901	chr13:96036290-96036291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575967336	chr13:96036347-96036348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572842165	chr13:96036349-96036350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545002752	chr13:96036383-96036384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558611771	chr13:96036405-96036406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7323782	chr13:96036419-96036420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544219404	chr13:96036470-96036471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9284285	chr13:96036493-96036494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529872167	chr13:96036497-96036498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145445999	chr13:96036525-96036526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559408539	chr13:96036546-96036547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191360597	chr13:96036574-96036575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147668169	chr13:96036625-96036626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571349429	chr13:96036626-96036627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142324885	chr13:96036631-96036632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142469126	chr13:96036634-96036635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151333764	chr13:96036721-96036722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140596489	chr13:96036751-96036752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9561867	chr13:96036794-96036795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150467619	chr13:96036821-96036822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183121436	chr13:96036839-96036840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531141777	chr13:96036855-96036856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558576130	chr13:96036874-96036875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34012018	chr13:96036885-96036886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528561428	chr13:96036886-96036887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545020202	chr13:96036905-96036906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55920221	chr13:96036907-96036908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138413498	chr13:96036943-96036944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140291854	chr13:96036952-96036953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145303460	chr13:96036958-96036959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137890324	chr13:96036967-96036968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113716298	chr13:96037011-96037012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142321106	chr13:96037026-96037027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566935023	chr13:96037049-96037050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9524958	chr13:96037067-96037068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545109580	chr13:96037109-96037110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Intellectual disability	22102821	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96033000-96040000	Weak transcription	Right Atrium	heart
2	chr13:96033200-96037600	Weak transcription	Hela-S3	cervix
3	chr13:96033400-96037600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:96033400-96037600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:96033400-96037600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:96033400-96037800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr13:96033400-96037800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:96033400-96038800	Weak transcription	Adipose Nuclei	Adipose
9	chr13:96033600-96038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:96033600-96038000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:96033800-96038800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:96034000-96037200	Weak transcription	K562	blood
13	chr13:96034200-96037400	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:96035200-96036000	Enhancers	GM12878-XiMat	blood
15	chr13:96035200-96036200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:96035600-96036200	Enhancers	HSMM	muscle
17	chr13:96036000-96037600	Weak transcription	GM12878-XiMat	blood
18	chr13:96037200-96038400	Enhancers	K562	blood
19	chr13:96037400-96041600	Enhancers	Colon Smooth Muscle	Colon
20	chr13:96037600-96037800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:96037600-96038000	Enhancers	Hela-S3	cervix
22	chr13:96037600-96038200	Enhancers	HepG2	liver
23	chr13:96037600-96038400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr13:96037600-96038400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr13:96037600-96040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:96037800-96039000	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:96037800-96041200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:96038000-96038200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:96038000-96038200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr13:96038000-96038200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:96038000-96041600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr13:96038200-96038800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:96038400-96038600	Weak transcription	GM12878-XiMat	blood
34	chr13:96038600-96039800	Enhancers	GM12878-XiMat	blood
35	chr13:96038800-96039000	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:96038800-96039200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr13:96038800-96040400	Enhancers	Adipose Nuclei	Adipose
38	chr13:96038800-96040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:96038800-96041000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:96039000-96039200	Enhancers	Psoas Muscle	Psoas
41	chr13:96039000-96039400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:96039000-96040200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr13:96039000-96040800	Enhancers	Fetal Stomach	stomach
44	chr13:96039200-96041200	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:96039400-96041400	Enhancers	Rectal Smooth Muscle	rectum
46	chr13:96039600-96040000	Enhancers	Psoas Muscle	Psoas
47	chr13:96039600-96040200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:96039600-96041000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr13:96039800-96040000	Active TSS	GM12878-XiMat	blood
50	chr13:96039800-96040200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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