Variant report

Variant	nsv887681
Chromosome Location	chr7:13399760-13467202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

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	chr7:13447844-13448027	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:13424379-13424625	HepG2	liver:	n/a	chr7:13424477-13424489
5	CEBPB	chr7:13461446-13461733	IMR90	lung:	n/a	n/a
6	CEBPB	chr7:13454129-13454456	HepG2	liver:	n/a	chr7:13454269-13454280
7	CEBPB	chr7:13424344-13424673	IMR90	lung:	n/a	chr7:13424477-13424489
8	CEBPB	chr7:13461413-13461784	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:13454228-13454447	A549	lung:	n/a	chr7:13454269-13454280
10	CEBPB	chr7:13428611-13428734	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:13424372-13424669	Hela-S3	cervix:	n/a	chr7:13424477-13424489
12	CEBPB	chr7:13454108-13454398	H1-hESC	embryonic stem cell:	n/a	chr7:13454269-13454280
13	CEBPB	chr7:13407442-13407740	HepG2	liver:	n/a	chr7:13407573-13407584
14	CEBPB	chr7:13407432-13407714	IMR90	lung:	n/a	chr7:13407573-13407584
15	CEBPB	chr7:13461438-13461715	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:13464282-13464439	HepG2	liver:	n/a	chr7:13464322-13464333
17	CEBPB	chr7:13461450-13461742	A549	lung:	n/a	n/a
18	CEBPB	chr7:13429221-13429334	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:13407444-13407738	A549	lung:	n/a	chr7:13407573-13407584
20	CTCF	chr7:13450936-13451076	GM12878	blood:	n/a	n/a
21	CTCF	chr7:13450880-13451030	Caco-2	colon:	n/a	n/a
22	CTCF	chr7:13450860-13451010	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr7:13450860-13451010	Caco-2	colon:	n/a	n/a
24	CTCF	chr7:13450880-13451030	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr7:13450880-13451030	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:13450880-13451030	HCFaa	heart:	n/a	n/a
27	CTCF	chr7:13450860-13451010	AG09319	gingival:	n/a	n/a
28	CTCF	chr7:13427440-13427590	NHLF	lung:	n/a	n/a
29	CTCF	chr7:13450800-13450950	HCT-116	colon:	n/a	n/a
30	CTCF	chr7:13450886-13451047	Gliobla	brain:	n/a	n/a
31	CTCF	chr7:13450920-13451070	HMF	breast:	n/a	n/a
32	CTCF	chr7:13450840-13450990	GM06990	blood:	n/a	n/a
33	CTCF	chr7:13450923-13451027	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:13417597-13417662	GM20000	blood:	n/a	n/a
35	CTCF	chr7:13450967-13450975	K562	blood:	n/a	n/a
36	CTCF	chr7:13450905-13451037	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr7:13454260-13454410	HCPEpiC	choroid plexus:	n/a	chr7:13454303-13454311
38	CTCF	chr7:13450813-13451077	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:13450799-13451156	MCF-7	breast:	n/a	n/a
40	CTCF	chr7:13450860-13451010	RPTEC	kidney:	n/a	n/a
41	CTCF	chr7:13441017-13441081	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr7:13450917-13451023	LNCaP	prostate:	n/a	n/a
43	CTCF	chr7:13450948-13450989	LNCaP	prostate:	n/a	n/a
44	CTCF	chr7:13428876-13428907	Lung_OC	lung:	n/a	n/a
45	CTCF	chr7:13409820-13409970	AG09319	gingival:	n/a	n/a
46	CTCF	chr7:13451388-13451505	Gliobla	brain:	n/a	chr7:13451447-13451468 chr7:13451465-13451483
47	CTCF	chr7:13450760-13450910	HMF	breast:	n/a	n/a
48	CTCF	chr7:13450900-13451050	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr7:13450920-13451070	AG09309	skin:	n/a	n/a
50	CTCF	chr7:13450720-13450870	RPTEC	kidney:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
2	chr7:13404337..13406494-chr7:13407462..13410168,2	K562	blood:
3	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
4	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
5	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:
6	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:

(count:3 , 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	chr7:13401069-13401187	XLOC_006358

No data

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

Extended variants
information (count: 716 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189060348	chr7:13401098-13401099	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546171048	chr7:13403978-13403979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187738491	chr7:13403988-13403989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531768646	chr7:13404009-13404010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142341698	chr7:13404027-13404028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556130467	chr7:13404035-13404036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561959978	chr7:13404060-13404061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527345153	chr7:13404144-13404145	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547093736	chr7:13404147-13404148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2116624	chr7:13404664-13404665	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2116626	chr7:13404870-13404871	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549344583	chr7:13404876-13404877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551455656	chr7:13407442-13407443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565293030	chr7:13407446-13407447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531185133	chr7:13407448-13407449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551340812	chr7:13407466-13407467	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79114494	chr7:13407468-13407469	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536878111	chr7:13407504-13407505	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546651215	chr7:13407526-13407527	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148197364	chr7:13407546-13407547	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539146634	chr7:13407572-13407573	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538742480	chr7:13407587-13407588	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558224688	chr7:13407593-13407594	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545429905	chr7:13407618-13407619	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141167868	chr7:13407630-13407631	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549877509	chr7:13407638-13407639	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537740874	chr7:13407640-13407641	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188176085	chr7:13407664-13407665	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574271572	chr7:13407667-13407668	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376124241	chr7:13407703-13407704	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540013075	chr7:13407704-13407705	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147378369	chr7:13407713-13407714	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573217467	chr7:13407746-13407747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527637746	chr7:13407753-13407754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545489383	chr7:13407823-13407824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191564199	chr7:13407825-13407826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139604136	chr7:13407860-13407861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530966433	chr7:13407877-13407878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377070352	chr7:13407897-13407898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550404489	chr7:13407926-13407927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530439228	chr7:13407927-13407928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577794069	chr7:13407935-13407936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546844895	chr7:13407938-13407939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567062334	chr7:13407979-13407980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10246750	chr7:13407985-13407986	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74670124	chr7:13407987-13407988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568498367	chr7:13407989-13407990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183666440	chr7:13408029-13408030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186489688	chr7:13408034-13408035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565608767	chr7:13408069-13408070	Inactive region	Chromatin interactive region	1 gene(s)	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13444200-13444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13445600-13445800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13445800-13447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:13446600-13448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:13447400-13448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:13447600-13448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:13447600-13448400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:13447800-13448400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:13447800-13448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:13448400-13458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:13451600-13451800	Enhancers	Psoas Muscle	Psoas
12	chr7:13451800-13454200	Weak transcription	Psoas Muscle	Psoas
13	chr7:13453400-13454000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:13453400-13454200	Enhancers	Stomach Smooth Muscle	stomach
15	chr7:13453600-13454000	Enhancers	Fetal Heart	heart
16	chr7:13453600-13454800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:13454000-13454200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:13454000-13454200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:13454000-13454400	Enhancers	Fetal Brain Female	brain
20	chr7:13454000-13454400	Enhancers	NH-A	brain
21	chr7:13454000-13454800	Flanking Active TSS	Fetal Heart	heart
22	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:13454200-13454600	Active TSS	Left Ventricle	heart
25	chr7:13454200-13454600	Flanking Active TSS	Psoas Muscle	Psoas
26	chr7:13454200-13454600	Active TSS	Right Atrium	heart
27	chr7:13454200-13454600	Active TSS	Right Ventricle	heart
28	chr7:13454200-13454600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:13454400-13454600	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr7:13454400-13454800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr7:13454600-13454800	Active TSS	Stomach Smooth Muscle	stomach
32	chr7:13454600-13455600	Weak transcription	Psoas Muscle	Psoas
33	chr7:13454800-13455000	Enhancers	Fetal Heart	heart
34	chr7:13454800-13455000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:13455800-13456000	Enhancers	Psoas Muscle	Psoas
36	chr7:13458000-13458600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr7:13467000-13468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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