Variant report

Variant	nsv1041037
Chromosome Location	chr13:62290172-62337672
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	CEBPB	chr13:62317223-62317406	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr13:62296454-62296643	A549	lung:	n/a	chr13:62296529-62296542 chr13:62296531-62296540 chr13:62296531-62296540 chr13:62296530-62296541 chr13:62296531-62296540 chr13:62296529-62296540 chr13:62296531-62296540
3	CEBPB	chr13:62296362-62296704	IMR90	lung:	n/a	chr13:62296529-62296542 chr13:62296531-62296540 chr13:62296531-62296540 chr13:62296530-62296541 chr13:62296531-62296540 chr13:62296529-62296540 chr13:62296531-62296540
4	CEBPB	chr13:62296355-62296688	HepG2	liver:	n/a	chr13:62296529-62296542 chr13:62296531-62296540 chr13:62296531-62296540 chr13:62296530-62296541 chr13:62296531-62296540 chr13:62296529-62296540 chr13:62296531-62296540
5	CEBPB	chr13:62303505-62303649	H1-hESC	embryonic stem cell:	n/a	chr13:62303562-62303573
6	CEBPB	chr13:62317118-62317406	IMR90	lung:	n/a	n/a
7	CEBPB	chr13:62303404-62303697	K562	blood:	n/a	chr13:62303562-62303573
8	CEBPB	chr13:62303410-62303713	HepG2	liver:	n/a	chr13:62303562-62303573
9	CEBPB	chr13:62303398-62303733	IMR90	lung:	n/a	chr13:62303562-62303573
10	CTCF	chr13:62319892-62319915	GM10266	blood:	n/a	n/a
11	CTCF	chr13:62322134-62322167	Lung_OC	lung:	n/a	n/a
12	CTCF	chr13:62297020-62297170	GM12864	blood:	n/a	n/a
13	CTCF	chr13:62302840-62302990	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr13:62311918-62311976	GM13977	blood:	n/a	n/a
15	E2F4	chr13:62320703-62320810	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr13:62302668-62302971	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr13:62302655-62302968	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr13:62301797-62302278	MCF10A-Er-Src	breast:	n/a	chr13:62301961-62301969 chr13:62301962-62301969
19	FOS	chr13:62302744-62302898	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr13:62301824-62302137	MCF10A-Er-Src	breast:	n/a	chr13:62301961-62301969 chr13:62301962-62301969
21	FOS	chr13:62301824-62302216	MCF10A-Er-Src	breast:	n/a	chr13:62301961-62301969 chr13:62301962-62301969
22	FOS	chr13:62302762-62302880	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr13:62301808-62302208	MCF10A-Er-Src	breast:	n/a	chr13:62301961-62301969 chr13:62301962-62301969
24	FOS	chr13:62296221-62296299	MCF10A-Er-Src	breast:	n/a	chr13:62296234-62296241 chr13:62296230-62296239
25	FOXA1	chr13:62302739-62302958	T-47D	breast:	n/a	n/a
26	FOXP2	chr13:62302620-62303071	SK-N-MC	brain:	n/a	n/a
27	FOXP2	chr13:62296396-62296669	SK-N-MC	brain:	n/a	n/a
28	GATA3	chr13:62309198-62309482	SH-SY5Y	brain:	n/a	n/a
29	IRF1	chr13:62307937-62308014	K562	blood:	n/a	n/a
30	JUND	chr13:62296111-62296331	HepG2	liver:	n/a	chr13:62296234-62296241 chr13:62296230-62296239 chr13:62296229-62296240
31	KAP1	chr13:62329579-62330827	HEK293	kidney:	n/a	n/a
32	KAP1	chr13:62329683-62331338	U2OS	brain:	n/a	n/a
33	MAFF	chr13:62335843-62336197	HepG2	liver:	n/a	chr13:62336001-62336019
34	MAFK	chr13:62297224-62297318	HepG2	liver:	n/a	chr13:62297265-62297280 chr13:62297268-62297282 chr13:62297270-62297281 chr13:62297269-62297280 chr13:62297230-62297245 chr13:62297265-62297281 chr13:62297269-62297280 chr13:62297270-62297281
35	MAFK	chr13:62335876-62336171	HepG2	liver:	n/a	chr13:62336003-62336018
36	MAFK	chr13:62336539-62336737	HepG2	liver:	n/a	chr13:62336608-62336619 chr13:62336606-62336620 chr13:62336608-62336628 chr13:62336607-62336618 chr13:62336607-62336618 chr13:62336611-62336625 chr13:62336610-62336626 chr13:62336607-62336623 chr13:62336608-62336619
37	MAFK	chr13:62303540-62303581	HepG2	liver:	n/a	n/a
38	MAFK	chr13:62335856-62336070	K562	blood:	n/a	chr13:62336003-62336018
39	MAFK	chr13:62335865-62336193	IMR90	lung:	n/a	chr13:62336003-62336018
40	MAFK	chr13:62297160-62297356	HepG2	liver:	n/a	chr13:62297265-62297280 chr13:62297268-62297282 chr13:62297270-62297281 chr13:62297269-62297280 chr13:62297230-62297245 chr13:62297265-62297281 chr13:62297269-62297280 chr13:62297270-62297281
41	MAFK	chr13:62335854-62336195	HepG2	liver:	n/a	chr13:62336003-62336018
42	MAFK	chr13:62303493-62303601	HepG2	liver:	n/a	n/a
43	MAX	chr13:62334077-62334114	NB4	blood:	n/a	chr13:62334086-62334096
44	MAZ	chr13:62327953-62328023	HepG2	liver:	n/a	n/a
45	MXI1	chr13:62311820-62311873	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr13:62334061-62334203	MCF10A-Er-Src	breast:	n/a	chr13:62334086-62334096
47	MYC	chr13:62302749-62302880	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr13:62302672-62302924	MCF10A-Er-Src	breast:	n/a	n/a
49	NFYB	chr13:62320230-62320365	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr13:62309598-62309677	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:62303864..62306706-chr13:62308709..62311523,2	K562	blood:
2	chr13:62303864..62306706-chr13:62308709..62311523,2	K562	blood:

Variant related genes	Relation type
ENSG00000212007	TF binding region

Extended variants
information (count: 443 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:443 , 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	rs141947598	chr13:62294847-62294848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571494914	chr13:62294953-62294954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538528043	chr13:62294991-62294992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556853985	chr13:62294997-62294998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575989756	chr13:62295000-62295001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9528382	chr13:62295007-62295008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555438153	chr13:62295013-62295014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568420863	chr13:62295019-62295020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574094430	chr13:62295021-62295022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541601072	chr13:62295080-62295081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190150949	chr13:62295152-62295153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578142423	chr13:62295162-62295163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543608113	chr13:62295172-62295173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545334198	chr13:62295200-62295201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563972431	chr13:62295204-62295205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539154932	chr13:62295215-62295216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9598346	chr13:62295244-62295245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549037696	chr13:62295298-62295299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370920594	chr13:62295323-62295324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566302492	chr13:62295332-62295333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535446228	chr13:62295377-62295378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560948822	chr13:62295394-62295395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138619031	chr13:62295426-62295427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546696166	chr13:62295458-62295459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35254207	chr13:62295473-62295474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571320185	chr13:62295520-62295521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376986686	chr13:62295526-62295527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181502199	chr13:62295545-62295546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78780099	chr13:62295553-62295554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555273431	chr13:62295592-62295593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537038635	chr13:62295608-62295609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186038255	chr13:62295619-62295620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142160601	chr13:62295692-62295693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544161970	chr13:62295699-62295700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77372258	chr13:62295713-62295714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34690958	chr13:62295823-62295824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553449897	chr13:62295825-62295826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578074510	chr13:62295835-62295836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117998684	chr13:62295859-62295860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557675191	chr13:62295860-62295861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190799488	chr13:62295876-62295877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542622628	chr13:62295878-62295879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565446656	chr13:62295894-62295895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369213713	chr13:62295907-62295908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577414354	chr13:62295939-62295940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534994155	chr13:62295987-62295988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554156432	chr13:62296042-62296043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528104410	chr13:62296071-62296072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539909755	chr13:62296083-62296084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34975909	chr13:62296173-62296174	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62294800-62295600	Weak transcription	Fetal Lung	lung
2	chr13:62295600-62296400	Enhancers	Fetal Lung	lung
3	chr13:62296400-62302000	Weak transcription	Fetal Lung	lung
4	chr13:62297800-62298600	Enhancers	Rectal Smooth Muscle	rectum
5	chr13:62298400-62298600	Enhancers	Fetal Stomach	stomach
6	chr13:62298600-62299200	Weak transcription	Fetal Stomach	stomach
7	chr13:62298600-62302000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:62299200-62300000	Enhancers	Fetal Stomach	stomach
9	chr13:62299400-62300000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:62300000-62302000	Weak transcription	Fetal Stomach	stomach
11	chr13:62301600-62303400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:62301800-62303000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:62301800-62303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:62302000-62302200	Enhancers	Fetal Stomach	stomach
15	chr13:62302000-62302200	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:62302000-62302400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:62302000-62302800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:62302000-62302800	Enhancers	Fetal Muscle Leg	muscle
19	chr13:62302000-62303000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:62302000-62303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:62302000-62303000	Enhancers	Stomach Smooth Muscle	stomach
22	chr13:62302000-62303000	Enhancers	NH-A	brain
23	chr13:62302000-62303200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr13:62302000-62303200	Enhancers	Colon Smooth Muscle	Colon
25	chr13:62302000-62303200	Enhancers	Fetal Kidney	kidney
26	chr13:62302000-62303200	Enhancers	Fetal Lung	lung
27	chr13:62302200-62302600	Weak transcription	Fetal Stomach	stomach
28	chr13:62302200-62302600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:62302200-62303000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr13:62302400-62303200	Enhancers	Adipose Nuclei	Adipose
31	chr13:62302600-62303000	Enhancers	Brain Angular Gyrus	brain
32	chr13:62302600-62303000	Enhancers	Fetal Stomach	stomach
33	chr13:62302600-62303200	Enhancers	Rectal Smooth Muscle	rectum
34	chr13:62302800-62303200	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:62310200-62310600	ZNF genes & repeats	Fetal Lung	lung
36	chr13:62310600-62312000	Weak transcription	Fetal Lung	lung
37	chr13:62312000-62312800	Enhancers	Fetal Lung	lung
38	chr13:62312600-62313000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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