Variant report

Variant	nsv1026639
Chromosome Location	chr7:13388534-13506460
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	ATF1	chr7:13411680-13411767	K562	blood:	n/a	n/a
2	BRCA1	chr7:13506329-13506376	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr7:13414806-13415132	HCT-116	colon:	n/a	n/a
4	CEBPB	chr7:13503816-13503969	A549	lung:	n/a	n/a
5	CEBPB	chr7:13424379-13424625	HepG2	liver:	n/a	chr7:13424477-13424489
6	CEBPB	chr7:13407444-13407738	A549	lung:	n/a	chr7:13407573-13407584
7	CEBPB	chr7:13454228-13454447	A549	lung:	n/a	chr7:13454269-13454280
8	CEBPB	chr7:13497903-13498142	A549	lung:	n/a	chr7:13498068-13498079
9	CEBPB	chr7:13424344-13424673	IMR90	lung:	n/a	chr7:13424477-13424489
10	CEBPB	chr7:13502716-13502916	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:13428611-13428734	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:13497892-13498210	HepG2	liver:	n/a	chr7:13498068-13498079
13	CEBPB	chr7:13454129-13454456	HepG2	liver:	n/a	chr7:13454269-13454280
14	CEBPB	chr7:13461413-13461784	HepG2	liver:	n/a	n/a
15	CEBPB	chr7:13407442-13407740	HepG2	liver:	n/a	chr7:13407573-13407584
16	CEBPB	chr7:13454108-13454398	H1-hESC	embryonic stem cell:	n/a	chr7:13454269-13454280
17	CEBPB	chr7:13475037-13475130	HepG2	liver:	n/a	chr7:13475040-13475051
18	CEBPB	chr7:13429221-13429334	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:13467943-13468107	A549	lung:	n/a	chr7:13468018-13468029 chr7:13467998-13468011
20	CEBPB	chr7:13461438-13461715	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr7:13464282-13464439	HepG2	liver:	n/a	chr7:13464322-13464333
22	CEBPB	chr7:13461450-13461742	A549	lung:	n/a	n/a
23	CEBPB	chr7:13461446-13461733	IMR90	lung:	n/a	n/a
24	CEBPB	chr7:13447844-13448027	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr7:13407432-13407714	IMR90	lung:	n/a	chr7:13407573-13407584
26	CEBPB	chr7:13424372-13424669	Hela-S3	cervix:	n/a	chr7:13424477-13424489
27	CEBPB	chr7:13497921-13498207	IMR90	lung:	n/a	chr7:13498068-13498079
28	CTCF	chr7:13450900-13451050	AG09319	gingival:	n/a	n/a
29	CTCF	chr7:13450880-13451030	Caco-2	colon:	n/a	n/a
30	CTCF	chr7:13450920-13451070	HPF	lung:	n/a	n/a
31	CTCF	chr7:13450967-13450975	K562	blood:	n/a	n/a
32	CTCF	chr7:13450840-13450990	BJ	skin:	n/a	n/a
33	CTCF	chr7:13450905-13451037	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr7:13392435-13392533	HepG2	liver:	n/a	n/a
35	CTCF	chr7:13399528-13399532	LNCaP	prostate:	n/a	n/a
36	CTCF	chr7:13450860-13451010	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr7:13392460-13392610	HMEC	breast:	n/a	n/a
38	CTCF	chr7:13399472-13399532	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:13454300-13454405	Gliobla	brain:	n/a	chr7:13454303-13454311
40	CTCF	chr7:13450917-13451023	LNCaP	prostate:	n/a	n/a
41	CTCF	chr7:13399400-13399550	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr7:13450880-13451030	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:13428876-13428907	Lung_OC	lung:	n/a	n/a
44	CTCF	chr7:13450840-13450990	GM06990	blood:	n/a	n/a
45	CTCF	chr7:13450813-13451077	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:13450860-13451010	AG09319	gingival:	n/a	n/a
47	CTCF	chr7:13392450-13392554	ProgFib	skin:	n/a	n/a
48	CTCF	chr7:13399360-13399558	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:13399460-13399610	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr7:13399400-13399550	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
2	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
3	chr7:13486434..13489093-chr7:13519344..13521855,2	K562	blood:
4	chr7:13499598..13502293-chr7:13502924..13505317,2	MCF-7	breast:
5	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
6	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
7	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:
8	chr7:13499598..13502293-chr7:13502924..13505317,2	MCF-7	breast:
9	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-2	chr7:13401069-13401187	XLOC_006358
2	lnc-ETV1-2	chr7:13403958-13404165	XLOC_006358
3	lnc-ETV1-2	chr7:13404637-13404674	XLOC_006358

Variant related genes	Relation type
ENSG00000237713	TF binding region
ENSG00000237713	chromatin interactions

Extended variants
information (count: 1070 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191224916	chr7:13390023-13390024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566690300	chr7:13390034-13390035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138611661	chr7:13390072-13390073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558276101	chr7:13390084-13390085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577567147	chr7:13390085-13390086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543419874	chr7:13390117-13390118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113152533	chr7:13390121-13390122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557197444	chr7:13390133-13390134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574015909	chr7:13390135-13390136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376683132	chr7:13390186-13390187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7796179	chr7:13390200-13390201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576382888	chr7:13392235-13392236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545405639	chr7:13392241-13392242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62445824	chr7:13392242-13392243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113191184	chr7:13392259-13392260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17657390	chr7:13392263-13392264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561906966	chr7:13392332-13392333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74909594	chr7:13392358-13392359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191080413	chr7:13392387-13392388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116289312	chr7:13392390-13392391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371761673	chr7:13392393-13392394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532513508	chr7:13392419-13392420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552623673	chr7:13392438-13392439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371334645	chr7:13392441-13392442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532027422	chr7:13392447-13392448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548641351	chr7:13392452-13392453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183657844	chr7:13392471-13392472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375535904	chr7:13392483-13392484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147300808	chr7:13392488-13392489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570229034	chr7:13392489-13392490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531216715	chr7:13392513-13392514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188855599	chr7:13392571-13392572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113529400	chr7:13392572-13392573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191543317	chr7:13392573-13392574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542732798	chr7:13392588-13392589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142466963	chr7:13392600-13392601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79257749	chr7:13392615-13392616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73066649	chr7:13392616-13392617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113777467	chr7:13392620-13392621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151335465	chr7:13392665-13392666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565300021	chr7:13392679-13392680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183407472	chr7:13392694-13392695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186928575	chr7:13392698-13392699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71548031	chr7:13392703-13392704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112752688	chr7:13392716-13392717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11976588	chr7:13392717-13392718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562860030	chr7:13392719-13392720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558998594	chr7:13392722-13392723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111815752	chr7:13392729-13392730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531195168	chr7:13392743-13392744	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13390000-13390200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:13392200-13392800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:13444200-13444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:13445600-13445800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:13445800-13447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:13446600-13448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:13447400-13448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13447600-13448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:13447600-13448400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:13447800-13448400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:13447800-13448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:13448400-13458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:13451600-13451800	Enhancers	Psoas Muscle	Psoas
14	chr7:13451800-13454200	Weak transcription	Psoas Muscle	Psoas
15	chr7:13453400-13454000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:13453400-13454200	Enhancers	Stomach Smooth Muscle	stomach
17	chr7:13453600-13454000	Enhancers	Fetal Heart	heart
18	chr7:13453600-13454800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:13454000-13454200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:13454000-13454200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:13454000-13454400	Enhancers	Fetal Brain Female	brain
22	chr7:13454000-13454400	Enhancers	NH-A	brain
23	chr7:13454000-13454800	Flanking Active TSS	Fetal Heart	heart
24	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:13454200-13454600	Active TSS	Left Ventricle	heart
27	chr7:13454200-13454600	Flanking Active TSS	Psoas Muscle	Psoas
28	chr7:13454200-13454600	Active TSS	Right Atrium	heart
29	chr7:13454200-13454600	Active TSS	Right Ventricle	heart
30	chr7:13454200-13454600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr7:13454400-13454600	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:13454400-13454800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:13454600-13454800	Active TSS	Stomach Smooth Muscle	stomach
34	chr7:13454600-13455600	Weak transcription	Psoas Muscle	Psoas
35	chr7:13454800-13455000	Enhancers	Fetal Heart	heart
36	chr7:13454800-13455000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:13455800-13456000	Enhancers	Psoas Muscle	Psoas
38	chr7:13458000-13458600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr7:13467000-13468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:13496600-13496800	Enhancers	Psoas Muscle	Psoas
41	chr7:13496600-13498000	Enhancers	Brain Germinal Matrix	brain
42	chr7:13497600-13497800	Enhancers	Psoas Muscle	Psoas
43	chr7:13497600-13497800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:13497600-13498000	Enhancers	Brain Hippocampus Middle	brain
45	chr7:13497600-13498000	Enhancers	Brain Substantia Nigra	brain
46	chr7:13499000-13499200	Enhancers	Psoas Muscle	Psoas
47	chr7:13499200-13499400	Enhancers	Left Ventricle	heart
48	chr7:13499200-13499400	Enhancers	Pancreas	Pancrea
49	chr7:13501600-13502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:13503200-13506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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