Variant report

Variant	nsv470099
Chromosome Location	chr7:13373793-13445846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	CBX3	chr7:13414806-13415132	HCT-116	colon:	n/a	n/a
3	CEBPB	chr7:13429221-13429334	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:13407442-13407740	HepG2	liver:	n/a	chr7:13407573-13407584
5	CEBPB	chr7:13424344-13424673	IMR90	lung:	n/a	chr7:13424477-13424489
6	CEBPB	chr7:13407444-13407738	A549	lung:	n/a	chr7:13407573-13407584
7	CEBPB	chr7:13428611-13428734	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:13375926-13376200	A549	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
9	CEBPB	chr7:13407432-13407714	IMR90	lung:	n/a	chr7:13407573-13407584
10	CEBPB	chr7:13375871-13376239	IMR90	lung:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
11	CEBPB	chr7:13375888-13376199	Hela-S3	cervix:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
12	CEBPB	chr7:13424372-13424669	Hela-S3	cervix:	n/a	chr7:13424477-13424489
13	CEBPB	chr7:13380101-13380195	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:13375900-13376197	HepG2	liver:	n/a	chr7:13376050-13376063 chr7:13376051-13376062
15	CEBPB	chr7:13424379-13424625	HepG2	liver:	n/a	chr7:13424477-13424489
16	CTCF	chr7:13399460-13399610	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr7:13399444-13399565	Gliobla	brain:	n/a	n/a
18	CTCF	chr7:13399409-13399591	Fibrobl	skin:	n/a	n/a
19	CTCF	chr7:13399474-13399563	GM12891	blood:	n/a	n/a
20	CTCF	chr7:13399462-13399581	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:13399451-13399563	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:13399472-13399532	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr7:13417597-13417662	GM20000	blood:	n/a	n/a
24	CTCF	chr7:13392435-13392533	HepG2	liver:	n/a	n/a
25	CTCF	chr7:13399360-13399558	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr7:13399482-13399573	ProgFib	skin:	n/a	n/a
27	CTCF	chr7:13399440-13399590	AG09309	skin:	n/a	n/a
28	CTCF	chr7:13399456-13399581	A549	lung:	n/a	n/a
29	CTCF	chr7:13399447-13399568	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:13399440-13399590	AG09319	gingival:	n/a	n/a
31	CTCF	chr7:13399460-13399610	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr7:13399400-13399550	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr7:13399528-13399532	LNCaP	prostate:	n/a	n/a
34	CTCF	chr7:13409820-13409970	AG09319	gingival:	n/a	n/a
35	CTCF	chr7:13399460-13399589	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:13392460-13392610	HMEC	breast:	n/a	n/a
37	CTCF	chr7:13392450-13392554	ProgFib	skin:	n/a	n/a
38	CTCF	chr7:13428876-13428907	Lung_OC	lung:	n/a	n/a
39	CTCF	chr7:13399400-13399550	HEK293	kidney:	n/a	n/a
40	CTCF	chr7:13399480-13399630	RPTEC	kidney:	n/a	n/a
41	CTCF	chr7:13399380-13399530	GM12872	blood:	n/a	n/a
42	CTCF	chr7:13392422-13392571	Gliobla	brain:	n/a	n/a
43	CTCF	chr7:13392480-13392630	A549	lung:	n/a	n/a
44	CTCF	chr7:13427440-13427590	NHLF	lung:	n/a	n/a
45	CTCF	chr7:13441017-13441081	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr7:13399380-13399530	HMEC	breast:	n/a	n/a
47	CTCF	chr7:13399400-13399550	HepG2	liver:	n/a	n/a
48	CTCF	chr7:13399448-13399571	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:13399455-13399585	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:13392497-13392510	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
2	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
3	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:
4	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:

(count:5 , 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	chr7:13401069-13401187	XLOC_006358
3	lnc-ETV1-2	chr7:13379728-13379885	XLOC_006358
4	lnc-ETV1-2	chr7:13403958-13404165	XLOC_006358
5	lnc-ETV1-2	chr7:13378826-13379144	XLOC_006358

No data

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

Extended variants
information (count: 328 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs987101	chr7:13373793-13373794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370785549	chr7:13373794-13373795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534481771	chr7:13375452-13375453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549727039	chr7:13375455-13375456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551330531	chr7:13375472-13375473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541388194	chr7:13375475-13375476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7803659	chr7:13375517-13375518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547986283	chr7:13375558-13375559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142245782	chr7:13375576-13375577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183114895	chr7:13375595-13375596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536491319	chr7:13375608-13375609	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555428575	chr7:13375635-13375636	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552819398	chr7:13375659-13375660	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566446803	chr7:13375730-13375731	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538677020	chr7:13375733-13375734	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75529326	chr7:13375734-13375735	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575610383	chr7:13375748-13375749	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146197922	chr7:13375765-13375766	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554767227	chr7:13375779-13375780	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147859704	chr7:13375801-13375802	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140435481	chr7:13375827-13375828	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150415201	chr7:13375891-13375892	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528459725	chr7:13375897-13375898	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114465775	chr7:13375917-13375918	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138209174	chr7:13375921-13375922	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565192866	chr7:13375972-13375973	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10259023	chr7:13376014-13376015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531120328	chr7:13376055-13376056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371588711	chr7:13376065-13376066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557437792	chr7:13376074-13376075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567826066	chr7:13376080-13376081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530264621	chr7:13376111-13376112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373068629	chr7:13376112-13376113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577237597	chr7:13376149-13376150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567013738	chr7:13376205-13376206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546663871	chr7:13376209-13376210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199578996	chr7:13376228-13376229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78128301	chr7:13376229-13376230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376255460	chr7:13376236-13376237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370329633	chr7:13376250-13376251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558593440	chr7:13376276-13376277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569135641	chr7:13376277-13376278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538166219	chr7:13376302-13376303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556868115	chr7:13376307-13376308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372726099	chr7:13376352-13376353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574561383	chr7:13376395-13376396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540097594	chr7:13376422-13376423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553431188	chr7:13376436-13376437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573005270	chr7:13376450-13376451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111535613	chr7:13376463-13376464	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13372200-13373800	Enhancers	Fetal Brain Male	brain
2	chr7:13375400-13375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:13375400-13376600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:13375600-13376000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:13375600-13376000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:13375600-13376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:13375600-13376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:13375600-13376600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:13376000-13376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:13376200-13376600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:13390000-13390200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:13392200-13392800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:13444200-13444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:13445600-13445800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:13445800-13447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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