Variant report

Variant	nsv887668
Chromosome Location	chr7:13325060-13467202
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	BACH1	chr7:13338320-13338338	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:13363506-13363706	HepG2	liver:	n/a	chr7:13363605-13363614 chr7:13363605-13363614
4	CBX3	chr7:13414806-13415132	HCT-116	colon:	n/a	n/a
5	CEBPB	chr7:13461450-13461742	A549	lung:	n/a	n/a
6	CEBPB	chr7:13375900-13376197	HepG2	liver:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
7	CEBPB	chr7:13375888-13376199	Hela-S3	cervix:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
8	CEBPB	chr7:13454228-13454447	A549	lung:	n/a	chr7:13454269-13454280
9	CEBPB	chr7:13424379-13424625	HepG2	liver:	n/a	chr7:13424477-13424489
10	CEBPB	chr7:13464282-13464439	HepG2	liver:	n/a	chr7:13464322-13464333
11	CEBPB	chr7:13461413-13461784	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:13327405-13327682	IMR90	lung:	n/a	chr7:13327528-13327539
13	CEBPB	chr7:13424372-13424669	Hela-S3	cervix:	n/a	chr7:13424477-13424489
14	CEBPB	chr7:13407444-13407738	A549	lung:	n/a	chr7:13407573-13407584
15	CEBPB	chr7:13454108-13454398	H1-hESC	embryonic stem cell:	n/a	chr7:13454269-13454280
16	CEBPB	chr7:13461438-13461715	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr7:13375926-13376200	A549	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
18	CEBPB	chr7:13447844-13448027	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr7:13407442-13407740	HepG2	liver:	n/a	chr7:13407573-13407584
20	CEBPB	chr7:13327424-13327653	HepG2	liver:	n/a	chr7:13327528-13327539
21	CEBPB	chr7:13407432-13407714	IMR90	lung:	n/a	chr7:13407573-13407584
22	CEBPB	chr7:13375871-13376239	IMR90	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
23	CEBPB	chr7:13454129-13454456	HepG2	liver:	n/a	chr7:13454269-13454280
24	CEBPB	chr7:13428611-13428734	HepG2	liver:	n/a	n/a
25	CEBPB	chr7:13429221-13429334	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:13380101-13380195	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:13424344-13424673	IMR90	lung:	n/a	chr7:13424477-13424489
28	CEBPB	chr7:13329670-13329774	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr7:13461446-13461733	IMR90	lung:	n/a	n/a
30	CTCF	chr7:13392422-13392571	Gliobla	brain:	n/a	n/a
31	CTCF	chr7:13450920-13451070	AG09309	skin:	n/a	n/a
32	CTCF	chr7:13450840-13450990	BJ	skin:	n/a	n/a
33	CTCF	chr7:13349300-13349450	HMF	breast:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
34	CTCF	chr7:13349300-13349450	BJ	skin:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
35	CTCF	chr7:13399455-13399585	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:13450948-13450989	LNCaP	prostate:	n/a	n/a
37	CTCF	chr7:13392435-13392533	HepG2	liver:	n/a	n/a
38	CTCF	chr7:13417597-13417662	GM20000	blood:	n/a	n/a
39	CTCF	chr7:13454260-13454410	HCPEpiC	choroid plexus:	n/a	chr7:13454303-13454311
40	CTCF	chr7:13392480-13392630	A549	lung:	n/a	n/a
41	CTCF	chr7:13399472-13399532	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr7:13349320-13349470	HA-sp	spinal cord:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
43	CTCF	chr7:13399380-13399530	GM12872	blood:	n/a	n/a
44	CTCF	chr7:13349306-13349409	Hela-S3	cervix:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
45	CTCF	chr7:13349280-13349430	AoAF	blood vessel:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
46	CTCF	chr7:13349280-13349430	HCPEpiC	choroid plexus:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
47	CTCF	chr7:13399440-13399590	AG09309	skin:	n/a	n/a
48	CTCF	chr7:13451388-13451505	Gliobla	brain:	n/a	chr7:13451447-13451468 chr7:13451465-13451483
49	CTCF	chr7:13349300-13349450	AG04450	lung:	n/a	chr7:13349360-13349373 chr7:13349357-13349375 chr7:13349358-13349374
50	CTCF	chr7:13399451-13399563	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
2	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
3	chr7:13329395..13332098-chr7:13334412..13336783,2	K562	blood:
4	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
5	chr7:13330558..13332098-chr7:13335283..13337491,2	K562	blood:
6	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
7	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:
8	chr7:5569725..5570695-chr7:13330190..13330690,2	HCT-116	colon:
9	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
10	chr7:13328653..13330831-chr7:13330931..13333736,2	K562	blood:
11	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
12	chr7:13338594..13340126-chr7:13765044..13766926,2	K562	blood:
13	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
14	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
15	chr7:13328653..13330831-chr7:13330931..13333736,2	K562	blood:
16	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
17	chr7:13330558..13332098-chr7:13335283..13337491,2	K562	blood:
18	chr7:13329395..13332098-chr7:13334412..13336783,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-5	chr7:13345351-13345669	NONHSAT119251
2	lnc-ETV1-2	chr7:13403958-13404165	XLOC_006358
3	lnc-ETV1-5	chr7:13367594-13367712	NONHSAT119251
4	lnc-ETV1-2	chr7:13404637-13404674	XLOC_006358
5	lnc-ETV1-5	chr7:13371162-13371199	NONHSAT119251
6	lnc-ETV1-5	chr7:13370483-13370690	NONHSAT119251
7	lnc-ETV1-5	chr7:13346253-13346410	NONHSAT119251
8	lnc-ETV1-2	chr7:13378826-13379144	XLOC_006358
9	lnc-ETV1-2	chr7:13401069-13401187	XLOC_006358
10	lnc-ETV1-2	chr7:13379728-13379885	XLOC_006358
11	lnc-ARL4A-1	chr7:13349834-13349948	XLOC_005988

Variant related genes	Relation type
ENSG00000237713	TF binding region
ENSG00000075624	chromatin interactions
ENSG00000237713	chromatin interactions

Extended variants
information (count: 2305 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10488260	chr7:13325060-13325061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115531522	chr7:13325077-13325078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17706589	chr7:13325097-13325098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144844419	chr7:13325111-13325112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562257510	chr7:13325153-13325154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574011359	chr7:13325154-13325155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536921965	chr7:13325187-13325188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557812505	chr7:13325191-13325192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531278518	chr7:13325239-13325240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111392134	chr7:13325241-13325242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192083903	chr7:13325273-13325274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545627668	chr7:13325300-13325301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577741074	chr7:13325311-13325312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564947149	chr7:13325342-13325343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537042642	chr7:13325357-13325358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575265622	chr7:13325384-13325385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544158871	chr7:13325419-13325420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560701330	chr7:13325432-13325433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529689589	chr7:13325446-13325447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148596512	chr7:13325473-13325474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560027994	chr7:13325478-13325479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532131675	chr7:13325526-13325527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375036513	chr7:13325531-13325532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1986159	chr7:13325533-13325534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201080831	chr7:13325564-13325565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147359788	chr7:13325586-13325587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111684342	chr7:13325593-13325594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145150273	chr7:13325618-13325619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55730229	chr7:13325629-13325630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186866245	chr7:13325635-13325636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113958207	chr7:13325656-13325657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573580985	chr7:13325659-13325660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191347111	chr7:13325660-13325661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558899221	chr7:13325661-13325662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112282303	chr7:13325662-13325663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117057083	chr7:13325691-13325692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184207696	chr7:13325697-13325698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189375443	chr7:13325719-13325720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7792522	chr7:13325751-13325752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193138145	chr7:13325752-13325753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6959652	chr7:13325758-13325759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185661098	chr7:13325763-13325764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201948514	chr7:13325769-13325770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139622224	chr7:13325772-13325773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138764508	chr7:13325789-13325790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111977283	chr7:13325790-13325791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73059089	chr7:13325857-13325858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531578670	chr7:13325858-13325859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561256510	chr7:13325881-13325882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550785353	chr7:13325890-13325891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13324400-13326600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:13325800-13328600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13326600-13326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:13326600-13326800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:13326600-13326800	Enhancers	Osteobl	bone
6	chr7:13326600-13327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:13326800-13328000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:13327000-13328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:13327000-13328200	Weak transcription	Osteobl	bone
10	chr7:13327200-13327600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:13327600-13328800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:13328000-13328600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:13328000-13328600	Enhancers	NHDF-Ad	bronchial
14	chr7:13328000-13328800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:13328000-13328800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:13328200-13328400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:13328200-13328600	Enhancers	Osteobl	bone
18	chr7:13328400-13332800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:13328600-13330600	Weak transcription	NHDF-Ad	bronchial
20	chr7:13328600-13330600	Weak transcription	Osteobl	bone
21	chr7:13328600-13332800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:13328800-13330400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:13328800-13330400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:13328800-13332000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:13330400-13331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:13330400-13331400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:13330600-13331000	Enhancers	NHDF-Ad	bronchial
28	chr7:13330600-13331000	Enhancers	Osteobl	bone
29	chr7:13331000-13332800	Weak transcription	Osteobl	bone
30	chr7:13331200-13332200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:13331400-13332600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:13332000-13332200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:13332200-13332600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:13332200-13333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:13332600-13333600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:13332600-13333800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:13332800-13333400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:13332800-13333400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:13332800-13333400	Enhancers	A549	lung
40	chr7:13332800-13333400	Enhancers	Osteobl	bone
41	chr7:13346800-13347600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:13347000-13347400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:13347000-13347400	Enhancers	Brain Germinal Matrix	brain
44	chr7:13347000-13347600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:13347000-13347800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:13347000-13348000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:13350000-13355000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr7:13350200-13353000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:13350800-13351000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:13350800-13351800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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