Variant report

Variant	nsv887671
Chromosome Location	chr7:13363605-13452449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

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	BHLHE40	chr7:13363506-13363706	HepG2	liver:	n/a	chr7:13363605-13363614 chr7:13363605-13363614
3	CBX3	chr7:13414806-13415132	HCT-116	colon:	n/a	n/a
4	CEBPB	chr7:13375900-13376197	HepG2	liver:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
5	CEBPB	chr7:13424372-13424669	Hela-S3	cervix:	n/a	chr7:13424477-13424489
6	CEBPB	chr7:13424344-13424673	IMR90	lung:	n/a	chr7:13424477-13424489
7	CEBPB	chr7:13429221-13429334	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:13428611-13428734	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:13407442-13407740	HepG2	liver:	n/a	chr7:13407573-13407584
10	CEBPB	chr7:13447844-13448027	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr7:13380101-13380195	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:13407432-13407714	IMR90	lung:	n/a	chr7:13407573-13407584
13	CEBPB	chr7:13407444-13407738	A549	lung:	n/a	chr7:13407573-13407584
14	CEBPB	chr7:13424379-13424625	HepG2	liver:	n/a	chr7:13424477-13424489
15	CEBPB	chr7:13375926-13376200	A549	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
16	CEBPB	chr7:13375888-13376199	Hela-S3	cervix:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
17	CEBPB	chr7:13375871-13376239	IMR90	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
18	CTCF	chr7:13450880-13451030	Caco-2	colon:	n/a	n/a
19	CTCF	chr7:13363700-13363850	AG04450	lung:	n/a	n/a
20	CTCF	chr7:13399400-13399550	HEK293	kidney:	n/a	n/a
21	CTCF	chr7:13450900-13451050	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr7:13392460-13392610	HMEC	breast:	n/a	n/a
23	CTCF	chr7:13450880-13451030	AG09309	skin:	n/a	n/a
24	CTCF	chr7:13450880-13451030	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr7:13399440-13399590	AG09309	skin:	n/a	n/a
26	CTCF	chr7:13450936-13451076	GM12878	blood:	n/a	n/a
27	CTCF	chr7:13450799-13451156	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:13450967-13450975	K562	blood:	n/a	n/a
29	CTCF	chr7:13399480-13399630	RPTEC	kidney:	n/a	n/a
30	CTCF	chr7:13399360-13399558	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:13399448-13399571	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:13450860-13451010	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr7:13441017-13441081	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr7:13399482-13399573	ProgFib	skin:	n/a	n/a
35	CTCF	chr7:13399444-13399565	Gliobla	brain:	n/a	n/a
36	CTCF	chr7:13417597-13417662	GM20000	blood:	n/a	n/a
37	CTCF	chr7:13409820-13409970	AG09319	gingival:	n/a	n/a
38	CTCF	chr7:13451388-13451505	Gliobla	brain:	n/a	chr7:13451447-13451468 chr7:13451465-13451483
39	CTCF	chr7:13399456-13399581	A549	lung:	n/a	n/a
40	CTCF	chr7:13450860-13451010	AG09319	gingival:	n/a	n/a
41	CTCF	chr7:13392450-13392554	ProgFib	skin:	n/a	n/a
42	CTCF	chr7:13399472-13399532	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr7:13363660-13363810	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr7:13450880-13451030	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:13450920-13451070	AG09309	skin:	n/a	n/a
46	CTCF	chr7:13399400-13399550	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr7:13399447-13399568	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:13450760-13450910	HMF	breast:	n/a	n/a
49	CTCF	chr7:13450813-13451077	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:13450900-13451050	AG09319	gingival:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
2	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
3	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:
4	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
5	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
6	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
7	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
8	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-2	chr7:13404637-13404674	XLOC_006358
2	lnc-ETV1-2	chr7:13403958-13404165	XLOC_006358
3	lnc-ETV1-2	chr7:13378826-13379144	XLOC_006358
4	lnc-ETV1-2	chr7:13401069-13401187	XLOC_006358
5	lnc-ETV1-5	chr7:13367594-13367712	NONHSAT119251
6	lnc-ETV1-5	chr7:13371162-13371199	NONHSAT119251
7	lnc-ETV1-2	chr7:13379728-13379885	XLOC_006358
8	lnc-ETV1-5	chr7:13370483-13370690	NONHSAT119251

No data

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

Extended variants
information (count: 994 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17167014	chr7:13363605-13363606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535044515	chr7:13363610-13363611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558411760	chr7:13363676-13363677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578215455	chr7:13363677-13363678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200748800	chr7:13363685-13363686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543990071	chr7:13363696-13363697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563733256	chr7:13363708-13363709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2884165	chr7:13363716-13363717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2357369	chr7:13363720-13363721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112924564	chr7:13363728-13363729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117176762	chr7:13363738-13363739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528062471	chr7:13363766-13363767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566906995	chr7:13363767-13363768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535891275	chr7:13363800-13363801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186946728	chr7:13365827-13365828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371190607	chr7:13365853-13365854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567063746	chr7:13365908-13365909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535950581	chr7:13365928-13365929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10268783	chr7:13365980-13365981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546870206	chr7:13365988-13365989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566483324	chr7:13366015-13366016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567190479	chr7:13366020-13366021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538520100	chr7:13366032-13366033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538850786	chr7:13366080-13366081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74481736	chr7:13366089-13366090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552781930	chr7:13366090-13366091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201140820	chr7:13366100-13366101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568810497	chr7:13366117-13366118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79270265	chr7:13366126-13366127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554567502	chr7:13366147-13366148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs574505684	chr7:13366195-13366196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575486077	chr7:13366233-13366234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533799551	chr7:13366377-13366378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553765193	chr7:13366404-13366405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577107557	chr7:13366421-13366422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs11771496	chr7:13366444-13366445	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555093776	chr7:13366456-13366457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563994297	chr7:13366465-13366466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562714477	chr7:13366484-13366485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575614998	chr7:13366487-13366488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200891419	chr7:13366521-13366522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11764756	chr7:13366526-13366527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540726659	chr7:13366536-13366537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561077234	chr7:13366537-13366538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191384994	chr7:13366542-13366543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546631727	chr7:13366556-13366557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115889256	chr7:13366564-13366565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs367574037	chr7:13366578-13366579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140933122	chr7:13366612-13366613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371374401	chr7:13366640-13366641	ZNF genes & repeats	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13361800-13363800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:13363600-13363800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13365800-13367400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:13367400-13368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:13368600-13370000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:13370000-13370400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:13370400-13371600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:13372200-13373800	Enhancers	Fetal Brain Male	brain
9	chr7:13375400-13375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:13375400-13376600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:13375600-13376000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:13375600-13376000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:13375600-13376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:13375600-13376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:13375600-13376600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:13376000-13376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:13376200-13376600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:13390000-13390200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:13392200-13392800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:13444200-13444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:13445600-13445800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:13445800-13447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:13446600-13448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:13447400-13448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:13447600-13448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:13447600-13448400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:13447800-13448400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:13447800-13448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:13448400-13458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:13451600-13451800	Enhancers	Psoas Muscle	Psoas
31	chr7:13451800-13454200	Weak transcription	Psoas Muscle	Psoas

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