Variant report

Variant	nsv887717
Chromosome Location	chr7:14944082-15008138
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	CEBPB	chr7:14949720-14949986	H1-hESC	embryonic stem cell:	n/a	chr7:14949816-14949827
2	CEBPB	chr7:14949737-14949944	HepG2	liver:	n/a	chr7:14949816-14949827
3	CEBPB	chr7:14949798-14949837	Hela-S3	cervix:	n/a	chr7:14949816-14949827
4	CTCF	chr7:14964152-14964333	GM12878	blood:	n/a	n/a
5	CTCF	chr7:14964108-14964368	IMR90	lung:	n/a	n/a
6	CTCF	chr7:14964146-14964299	LNCaP	prostate:	n/a	n/a
7	CTCF	chr7:14964160-14964310	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr7:14958027-14958081	GM20000	blood:	n/a	n/a
9	CTCF	chr7:14964520-14964670	AG10803	skin:	n/a	n/a
10	CTCF	chr7:14964240-14964390	HMEC	breast:	n/a	n/a
11	CTCF	chr7:14964158-14964335	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:14964140-14964290	HPF	lung:	n/a	n/a
13	CTCF	chr7:14964140-14964290	HMF	breast:	n/a	n/a
14	CTCF	chr7:14964144-14964300	Medullo	brain:	n/a	n/a
15	CTCF	chr7:14964120-14964270	HPF	lung:	n/a	n/a
16	CTCF	chr7:14964280-14964430	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr7:14964100-14964250	AG04450	lung:	n/a	n/a
18	CTCF	chr7:14964141-14964305	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr7:14964180-14964330	AG10803	skin:	n/a	n/a
20	CTCF	chr7:14964240-14964390	RPTEC	kidney:	n/a	n/a
21	CTCF	chr7:14964180-14964330	AG09319	gingival:	n/a	n/a
22	CTCF	chr7:14964160-14964310	BJ	skin:	n/a	n/a
23	CTCF	chr7:14964150-14964277	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:14964080-14964230	HCM	heart:	n/a	n/a
25	CTCF	chr7:14964160-14964310	AG10803	skin:	n/a	n/a
26	CTCF	chr7:14964140-14964290	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr7:14964140-14964290	AG09319	gingival:	n/a	n/a
28	CTCF	chr7:14998280-14998430	SK-N-SH_RA	brain:	n/a	chr7:14998380-14998398 chr7:14998387-14998395
29	CTCF	chr7:15001180-15001330	GM12866	blood:	n/a	n/a
30	CTCF	chr7:14964160-14964310	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr7:14964080-14964230	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr7:14964120-14964270	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr7:14964120-14964270	AG09309	skin:	n/a	n/a
34	CTCF	chr7:14998320-14998470	HPAF	blood vessel:	n/a	chr7:14998380-14998398 chr7:14998387-14998395
35	CTCF	chr7:14963924-14964343	HCT-116	colon:	n/a	n/a
36	CTCF	chr7:14964100-14964250	AG04449	skin:	n/a	n/a
37	CTCF	chr7:14980184-14980214	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr7:14964160-14964310	HCFaa	heart:	n/a	n/a
39	CTCF	chr7:14964120-14964270	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr7:14964140-14964290	HCPEpiC	choroid plexus:	n/a	n/a
41	E2F4	chr7:14987554-14987745	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr7:15000895-15001243	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr7:15000119-15001928	SK-N-SH	brain:	n/a	n/a
44	EP300	chr7:14965647-14966157	SK-N-SH	brain:	n/a	n/a
45	EP300	chr7:14965834-14966126	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr7:14965735-14966135	SK-N-SH_RA	brain:	n/a	n/a
47	FOS	chr7:14989649-14990009	MCF10A-Er-Src	breast:	n/a	chr7:14989823-14989834
48	FOS	chr7:14945390-14945778	HUVEC	blood vessel:	n/a	chr7:14945572-14945583
49	FOS	chr7:14989720-14989994	HUVEC	blood vessel:	n/a	chr7:14989823-14989834
50	FOS	chr7:14989649-14990016	MCF10A-Er-Src	breast:	n/a	chr7:14989823-14989834

No.	Distal block	Cell Line	Cell type
1	chr7:14995312..14997683-chr7:15009030..15011950,2	K562	blood:
2	chr7:14958102..14960838-chr7:14962374..14965166,2	K562	blood:
3	chr7:15003480..15005257-chr7:15044429..15047091,2	K562	blood:
4	chr7:14958102..14960838-chr7:14962374..14965166,2	K562	blood:
5	chr7:15002300..15004911-chr7:15009747..15012507,2	MCF-7	breast:

Variant related genes	Relation type
DGKB	TF binding region

Extended variants
information (count: 932 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs217601	chr7:14944082-14944083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576777120	chr7:14944087-14944088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545334248	chr7:14944127-14944128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559215598	chr7:14944209-14944210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373533714	chr7:14944292-14944293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187283286	chr7:14944316-14944317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544428477	chr7:14944322-14944323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561029655	chr7:14944325-14944326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530173185	chr7:14944369-14944370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116352345	chr7:14944378-14944379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560240233	chr7:14944392-14944393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192147435	chr7:14944398-14944399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552160854	chr7:14944443-14944444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377515557	chr7:14944462-14944463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183822748	chr7:14944477-14944478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548448577	chr7:14944478-14944479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568161773	chr7:14944493-14944494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144728319	chr7:14944512-14944513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11979311	chr7:14944516-14944517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148546637	chr7:14944536-14944537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141894364	chr7:14944545-14944546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10246860	chr7:14944557-14944558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375486550	chr7:14944566-14944567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558800927	chr7:14944604-14944605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377529927	chr7:14944636-14944637	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188626591	chr7:14944637-14944638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs193259126	chr7:14944648-14944649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184207526	chr7:14944651-14944652	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13242115	chr7:14944659-14944660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs78335487	chr7:14944663-14944664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs146110259	chr7:14944685-14944686	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574694955	chr7:14944697-14944698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540327162	chr7:14944733-14944734	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs188222568	chr7:14944735-14944736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs577147895	chr7:14944744-14944745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs217602	chr7:14944760-14944761	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562764858	chr7:14944834-14944835	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs531686446	chr7:14944847-14944848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548508488	chr7:14944853-14944854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs371049834	chr7:14944868-14944869	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532407016	chr7:14944870-14944871	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs57776825	chr7:14944885-14944886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs55752603	chr7:14944888-14944889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs558889261	chr7:14944898-14944899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191410772	chr7:14944918-14944919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529663415	chr7:14944931-14944932	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113885794	chr7:14944932-14944933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143869331	chr7:14944959-14944960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs73287457	chr7:14944961-14944962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs183895024	chr7:14944963-14944964	Weak transcription	TF binding region	1 gene(s)	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
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
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14943600-14945000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:14944000-14945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:14945000-14945200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:14945200-14945600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:14945200-14945600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:14945400-14945600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:14945400-14945600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:14945400-14945600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:14945400-14945600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:14945400-14945600	Enhancers	HUVEC	blood vessel
11	chr7:14945600-14946000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:14971000-14972600	Enhancers	Pancreas	Pancrea
13	chr7:14974400-14977600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:14974600-14976000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:14975400-14976600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:14975600-14976600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:14975800-14976400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:14975800-14976600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:14975800-14976600	Enhancers	Fetal Intestine Small	intestine
20	chr7:14975800-14976800	Enhancers	Colon Smooth Muscle	Colon
21	chr7:14976000-14976200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:14976000-14976400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:14976000-14976400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:14976000-14976600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:14976000-14976600	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:14976000-14976600	Enhancers	Osteobl	bone
27	chr7:14976200-14976400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:14976400-14977400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:14976600-14977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:14977000-14978000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:14977400-14978200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:14986000-14986400	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:14993000-14993800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:14993200-14993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:14993200-14993800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:14993600-14994000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:14993600-14996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:14993800-14994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:14993800-14995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:14994000-14998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:14994200-14996400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:14994400-14994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:14994800-14995200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:14995000-14995400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:14995200-14995600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:14995400-14997800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:14995600-14996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:14996400-14998200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:14996600-14996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:14996600-14998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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