Variant report

Variant	nsv900864
Chromosome Location	chr13:90110725-90173515
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	chr13:90166877-90167409	HepG2	liver:	n/a	n/a
2	ATF3	chr13:90166748-90167411	A549	lung:	n/a	n/a
3	BATF	chr13:90117655-90117965	GM12878	blood:	n/a	chr13:90117764-90117775
4	BCL3	chr13:90166802-90167246	A549	lung:	n/a	n/a
5	BCL3	chr13:90166728-90167467	A549	lung:	n/a	n/a
6	BRCA1	chr13:90166960-90167339	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr13:90166579-90167503	A549	lung:	n/a	n/a
8	CEBPB	chr13:90110184-90110994	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr13:90127861-90128178	HepG2	liver:	n/a	chr13:90128018-90128029
10	CEBPB	chr13:90171065-90171290	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr13:90166162-90166377	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr13:90166942-90167297	MCF-7	breast:	n/a	n/a
13	CEBPB	chr13:90120635-90120885	H1-hESC	embryonic stem cell:	n/a	chr13:90120722-90120733
14	CEBPB	chr13:90120558-90120849	A549	lung:	n/a	chr13:90120722-90120733
15	CEBPB	chr13:90120640-90120770	K562	blood:	n/a	chr13:90120722-90120733
16	CEBPB	chr13:90127840-90128138	A549	lung:	n/a	chr13:90128018-90128029
17	CEBPB	chr13:90166750-90167502	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr13:90127859-90128113	Hela-S3	cervix:	n/a	chr13:90128018-90128029
19	CEBPB	chr13:90166987-90167427	A549	lung:	n/a	n/a
20	CEBPB	chr13:90127850-90128161	IMR90	lung:	n/a	chr13:90128018-90128029
21	CEBPB	chr13:90166838-90167348	A549	lung:	n/a	n/a
22	CEBPB	chr13:90166633-90167478	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr13:90120562-90120885	HepG2	liver:	n/a	chr13:90120722-90120733
24	CEBPB	chr13:90167086-90167299	HepG2	liver:	n/a	n/a
25	CEBPB	chr13:90120552-90120888	IMR90	lung:	n/a	chr13:90120722-90120733
26	CHD2	chr13:90166745-90167267	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr13:90128500-90128650	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr13:90113723-90113776	Lung_OC	lung:	n/a	n/a
29	CTCF	chr13:90171940-90172090	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr13:90142840-90142990	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr13:90171860-90172010	HCPEpiC	choroid plexus:	n/a	n/a
32	EBF1	chr13:90117767-90117833	GM12878	blood:	n/a	n/a
33	ELK1	chr13:90166907-90167271	Hela-S3	cervix:	n/a	n/a
34	EP300	chr13:90166578-90167664	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr13:90110235-90110771	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr13:90148737-90149156	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr13:90166484-90167479	A549	lung:	n/a	n/a
38	EP300	chr13:90148706-90149032	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr13:90166683-90167353	Hela-S3	cervix:	n/a	n/a
40	EP300	chr13:90166874-90167245	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr13:90166435-90167581	A549	lung:	n/a	n/a
42	EP300	chr13:90148552-90150501	SK-N-SH	brain:	n/a	chr13:90149262-90149276
43	EP300	chr13:90166708-90167505	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr13:90110136-90110844	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr13:90138371-90138735	SK-N-SH_RA	brain:	n/a	chr13:90138375-90138384
46	EP300	chr13:90148735-90149180	SK-N-SH	brain:	n/a	n/a
47	EP300	chr13:90137998-90138992	SK-N-SH	brain:	n/a	chr13:90138375-90138384
48	EP300	chr13:90138334-90138656	SK-N-SH_RA	brain:	n/a	chr13:90138375-90138384
49	ESR1	chr13:90166791-90167275	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr13:90166969-90167268	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:90172699..90174465-chr13:90182640..90184619,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-11	chr13:90152628-90152763	XLOC_010685
2	lnc-SLITRK6-11	chr13:90129862-90130391	XLOC_010685

Variant related genes	Relation type
LINC01040	TF binding region

Extended variants
information (count: 906 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs620909	chr13:90110725-90110726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565043846	chr13:90110766-90110767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149625348	chr13:90110773-90110774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561333227	chr13:90110807-90110808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540117796	chr13:90110813-90110814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144331377	chr13:90110815-90110816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113347902	chr13:90110820-90110821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75433981	chr13:90110829-90110830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75126675	chr13:90110830-90110831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544357439	chr13:90110837-90110838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183679874	chr13:90110838-90110839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544048821	chr13:90110854-90110855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563808688	chr13:90110875-90110876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530870085	chr13:90110910-90110911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574402	chr13:90110932-90110933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547176025	chr13:90110935-90110936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561262859	chr13:90110938-90110939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567940103	chr13:90110945-90110946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528822625	chr13:90110953-90110954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547297999	chr13:90110956-90110957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571811902	chr13:90111022-90111023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75245784	chr13:90111082-90111083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550846777	chr13:90111116-90111117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568941509	chr13:90111117-90111118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188827429	chr13:90111148-90111149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554173787	chr13:90111150-90111151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572492656	chr13:90111168-90111169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs471682	chr13:90111187-90111188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532896457	chr13:90111199-90111200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139032956	chr13:90111208-90111209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577018005	chr13:90111221-90111222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192090859	chr13:90111252-90111253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562534528	chr13:90111261-90111262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78304285	chr13:90111290-90111291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56307179	chr13:90111298-90111299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184104017	chr13:90111310-90111311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528508319	chr13:90111370-90111371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188496339	chr13:90111384-90111385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191528648	chr13:90111385-90111386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532653426	chr13:90111400-90111401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551204876	chr13:90111410-90111411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569332525	chr13:90111436-90111437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535729222	chr13:90111446-90111447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535979223	chr13:90111495-90111496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547899741	chr13:90111527-90111528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184551863	chr13:90111548-90111549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566202422	chr13:90111570-90111571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142219961	chr13:90111578-90111579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558091136	chr13:90111642-90111643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577109106	chr13:90111645-90111646	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
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	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
abnormal development	18461090	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90106600-90111600	Enhancers	NHEK	skin
2	chr13:90107000-90111600	Enhancers	HMEC	breast
3	chr13:90107200-90111400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:90107200-90111400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:90108200-90111600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:90109600-90111200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:90109800-90110800	Enhancers	Adipose Nuclei	Adipose
8	chr13:90109800-90111000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:90109800-90111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:90111600-90112600	Weak transcription	HMEC	breast
11	chr13:90114600-90115600	Enhancers	Fetal Heart	heart
12	chr13:90116200-90117200	Weak transcription	HMEC	breast
13	chr13:90117200-90118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:90117200-90118200	Enhancers	HMEC	breast
15	chr13:90117800-90118000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:90118000-90119000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:90119000-90119600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:90138200-90138600	Enhancers	Fetal Heart	heart
19	chr13:90138600-90139400	Weak transcription	Fetal Heart	heart
20	chr13:90139400-90139600	Enhancers	Fetal Heart	heart
21	chr13:90148600-90149000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:90148600-90149000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:90148600-90149000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:90148600-90149000	Enhancers	Fetal Heart	heart
25	chr13:90149000-90149800	Weak transcription	Fetal Heart	heart
26	chr13:90149800-90150000	Enhancers	Fetal Heart	heart
27	chr13:90150000-90151000	Weak transcription	Fetal Heart	heart
28	chr13:90151000-90151200	Enhancers	Fetal Heart	heart
29	chr13:90160000-90160400	Enhancers	A549	lung
30	chr13:90162600-90164800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:90163400-90165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:90163600-90165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:90164000-90164200	ZNF genes & repeats	Fetal Lung	lung
34	chr13:90164200-90167000	Weak transcription	Fetal Lung	lung
35	chr13:90165200-90165400	Enhancers	A549	lung
36	chr13:90165200-90166000	Enhancers	HUVEC	blood vessel
37	chr13:90165200-90168000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr13:90165200-90168000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:90165400-90165800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:90165400-90166600	Flanking Active TSS	A549	lung
41	chr13:90165400-90166800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr13:90165400-90167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:90165400-90167800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:90165600-90165800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:90165600-90166000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr13:90165600-90167600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:90165600-90167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:90165600-90167800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:90165800-90166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:90165800-90166800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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