Variant report

Variant	nsv5655
Chromosome Location	chr7:21728469-21773203
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	chr7:21749676-21749744	K562	blood:	n/a	n/a
2	CTCF	chr7:21762160-21762310	MCF-7	breast:	n/a	chr7:21762162-21762169
3	CTCF	chr7:21762400-21762550	GM12866	blood:	n/a	n/a
4	CTCF	chr7:21762020-21762170	HMF	breast:	n/a	chr7:21762162-21762169
5	CTCF	chr7:21730484-21730559	K562	blood:	n/a	chr7:21730532-21730553
6	CTCF	chr7:21762020-21762170	GM12878	blood:	n/a	chr7:21762162-21762169
7	CTCF	chr7:21730503-21730557	MCF-7	breast:	n/a	chr7:21730532-21730553
8	CTCF	chr7:21762020-21762170	HL-60	blood:	n/a	chr7:21762162-21762169
9	CTCF	chr7:21762140-21762290	HUVEC	blood vessel:	n/a	chr7:21762162-21762169
10	CTCF	chr7:21730480-21730770	HAc	cerebellar:	n/a	chr7:21730532-21730553
11	CTCF	chr7:21762200-21762350	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr7:21761920-21762070	GM12868	blood:	n/a	n/a
13	CTCF	chr7:21730460-21730610	HCFaa	heart:	n/a	chr7:21730532-21730553
14	CTCF	chr7:21762100-21762250	BE2_C	brain:	n/a	chr7:21762162-21762169
15	CTCF	chr7:21730476-21730593	ProgFib	skin:	n/a	chr7:21730532-21730553
16	CTCF	chr7:21762140-21762290	GM12872	blood:	n/a	chr7:21762162-21762169
17	CTCF	chr7:21762120-21762270	HBMEC	blood vessel:	n/a	chr7:21762162-21762169
18	CTCF	chr7:21762120-21762270	MCF-7	breast:	n/a	chr7:21762162-21762169
19	CTCF	chr7:21762020-21762170	RPTEC	kidney:	n/a	chr7:21762162-21762169
20	CTCF	chr7:21730440-21730590	GM12865	blood:	n/a	chr7:21730532-21730553
21	CTCF	chr7:21762040-21762190	GM12865	blood:	n/a	chr7:21762162-21762169
22	CTCF	chr7:21762120-21762270	GM12869	blood:	n/a	chr7:21762162-21762169
23	CTCF	chr7:21730260-21730762	MCF-7	breast:	n/a	chr7:21730532-21730553
24	CTCF	chr7:21730440-21730590	HBMEC	blood vessel:	n/a	chr7:21730532-21730553
25	CTCF	chr7:21762040-21762190	HA-sp	spinal cord:	n/a	chr7:21762162-21762169
26	CTCF	chr7:21744100-21744250	HepG2	liver:	n/a	n/a
27	CTCF	chr7:21762120-21762270	AG10803	skin:	n/a	chr7:21762162-21762169
28	CTCF	chr7:21730472-21730554	NHEK	skin:	n/a	chr7:21730532-21730553
29	CTCF	chr7:21730499-21730612	HUVEC	blood vessel:	n/a	chr7:21730532-21730553
30	CTCF	chr7:21730857-21730946	LNCaP	prostate:	n/a	n/a
31	CTCF	chr7:21762040-21762190	HRE	kidney:	n/a	chr7:21762162-21762169
32	CTCF	chr7:21762240-21762390	RPTEC	kidney:	n/a	n/a
33	CTCF	chr7:21730460-21730610	GM12864	blood:	n/a	chr7:21730532-21730553
34	CTCF	chr7:21762120-21762270	SAEC	small airway:	n/a	chr7:21762162-21762169
35	CTCF	chr7:21762100-21762250	HFF	foreskin:	n/a	chr7:21762162-21762169
36	CTCF	chr7:21730460-21730610	NHEK	skin:	n/a	chr7:21730532-21730553
37	CTCF	chr7:21730480-21730630	Caco-2	colon:	n/a	chr7:21730532-21730553
38	CTCF	chr7:21762040-21762190	A549	lung:	n/a	chr7:21762162-21762169
39	CTCF	chr7:21762060-21762210	HVMF	connective:	n/a	chr7:21762162-21762169
40	CTCF	chr7:21762040-21762190	GM12873	blood:	n/a	chr7:21762162-21762169
41	CTCF	chr7:21762072-21762232	K562	blood:	n/a	chr7:21762162-21762169
42	CTCF	chr7:21762060-21762210	HMEC	breast:	n/a	chr7:21762162-21762169
43	CTCF	chr7:21730524-21730541	Medullo	brain:	n/a	n/a
44	CTCF	chr7:21744160-21744310	Caco-2	colon:	n/a	n/a
45	CTCF	chr7:21731031-21731081	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:21759625-21759665	ProgFib	skin:	n/a	n/a
47	CTCF	chr7:21730480-21730630	HPF	lung:	n/a	chr7:21730532-21730553
48	CTCF	chr7:21762060-21762210	HEK293	kidney:	n/a	chr7:21762162-21762169
49	CTCF	chr7:21762100-21762250	GM12870	blood:	n/a	chr7:21762162-21762169
50	CTCF	chr7:21761820-21761970	HVMF	connective:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:21732239-21732289	GM06990	blood:	n/a
2	chr7:21732239-21732289	GM19239	blood:	n/a
3	chr7:21732239-21732289	ProgFib	skin:	n/a
4	chr7:21732239-21732289	Jurkat	blood:	n/a
5	chr7:21732239-21732289	PANC-1	pancreas:	n/a
6	chr7:21732239-21732289	A549	lung:	n/a
7	chr7:21732239-21732289	HCF	heart:	n/a
8	chr7:21732239-21732289	AG09309	skin:	n/a
9	chr7:21732239-21732289	HEEpiC	esophagus:	n/a
10	chr7:21732239-21732289	CMK	blood:	n/a
11	chr7:21732239-21732289	K562	blood:	n/a
12	chr7:21732239-21732289	HRPEpiC	eye:	n/a
13	chr7:21732239-21732289	IMR90	lung:	fetal
14	chr7:21732239-21732289	Hela-S3	cervix:	n/a
15	chr7:21732239-21732289	AG10803	skin:	n/a
16	chr7:21732239-21732289	NHBE	bronchial:	n/a
17	chr7:21732239-21732289	ECC-1	luminal epithelium:	n/a
18	chr7:21732239-21732289	RPTEC	kidney:	n/a
19	chr7:21732239-21732289	AG04450	lung:	fetal
20	chr7:21732239-21732289	SAEC	small airway:	n/a
21	chr7:21732239-21732289	HMEC	breast:	n/a
22	chr7:21732239-21732289	GM12892	blood:	n/a
23	chr7:21732239-21732289	HRCEpiC	kidney:	n/a
24	chr7:21732239-21732289	HCM	heart:	n/a
25	chr7:21732239-21732289	MCF-7	breast:	n/a
26	chr7:21732239-21732289	SK-N-SH	brain:	n/a
27	chr7:21732239-21732289	MCF10A-Er-Src	breast:	n/a
28	chr7:21732239-21732289	HepG2	liver:	n/a
29	chr7:21732239-21732289	BJ	skin:	n/a
30	chr7:21732239-21732289	SK-N-SH_RA	brain:	n/a
31	chr7:21732239-21732289	T-47D	breast:	n/a
32	chr7:21732239-21732289	AG04449	skin:	fetal
33	chr7:21732239-21732289	NB4	blood:	n/a
34	chr7:21732239-21732289	HNPCEpiC	eye:	n/a
35	chr7:21732239-21732289	AG09319	gingival:	n/a
36	chr7:21732239-21732289	Hepatocyte	liver:	n/a
37	chr7:21732239-21732289	HL-60	blood:	n/a
38	chr7:21732239-21732289	SKMC	muscle:	n/a
39	chr7:21732239-21732289	ovcar-3	ovarian:	n/a
40	chr7:21732239-21732289	Caco-2	colon:	n/a
41	chr7:21732239-21732289	GM12891	blood:	n/a
42	chr7:21732239-21732289	BE2_C	brain:	n/a
43	chr7:21732239-21732289	LNCaP	prostate:	n/a
44	chr7:21732239-21732289	H1-hESC	embryonic stem cell:	embryo
45	chr7:21732239-21732289	HEK293	kidney:	embryo
46	chr7:21732239-21732289	SK-N-MC	brain:	n/a
47	chr7:21732239-21732289	U87	brain:	n/a
48	chr7:21732239-21732289	HAEpiC	amniotic membrane:	n/a
49	chr7:21732239-21732289	NHDF-neo	bronchial:	n/a
50	chr7:21732239-21732289	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:21759031..21761458-chr7:21766990..21768556,2	K562	blood:
2	chr7:21739013..21741392-chr7:21743576..21745490,2	K562	blood:
3	chr7:21295642..21296533-chr7:21730063..21731012,2	MCF-7	breast:
4	chr7:21759031..21761458-chr7:21766990..21768556,2	K562	blood:
5	chr7:21724497..21726711-chr7:21726889..21729751,2	K562	blood:
6	chr7:21739013..21741392-chr7:21743576..21745490,2	K562	blood:

Variant related genes	Relation type
DNAH11	TF binding region
DNAH11	CpG island

Extended variants
information (count: 976 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:976 , 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	rs377118701	chr7:21728473-21728474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74952561	chr7:21728501-21728502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189692384	chr7:21728537-21728538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544455030	chr7:21728565-21728566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369360423	chr7:21728567-21728568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375933510	chr7:21728585-21728586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551292783	chr7:21728599-21728600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2033884	chr7:21728627-21728628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11977662	chr7:21728630-21728631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546773954	chr7:21728649-21728650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566751519	chr7:21728805-21728806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528160389	chr7:21728809-21728810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547996370	chr7:21728876-21728877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568007782	chr7:21728978-21728979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536647088	chr7:21728984-21728985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375710952	chr7:21728995-21728996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557042806	chr7:21728998-21728999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570753001	chr7:21729041-21729042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117026725	chr7:21729043-21729044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573589688	chr7:21729048-21729049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553185403	chr7:21729062-21729063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4719672	chr7:21729064-21729065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535900315	chr7:21729085-21729086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74762888	chr7:21729094-21729095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575737995	chr7:21729115-21729116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544190738	chr7:21729120-21729121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183386570	chr7:21729121-21729122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142607484	chr7:21729131-21729132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540546318	chr7:21729133-21729134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531156950	chr7:21729134-21729135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560702414	chr7:21729182-21729183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529474396	chr7:21729189-21729190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2919227	chr7:21729190-21729191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549888077	chr7:21729192-21729193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138081239	chr7:21731601-21731602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4719673	chr7:21731625-21731626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143675793	chr7:21731660-21731661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80076384	chr7:21731663-21731664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117634525	chr7:21731669-21731670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564841509	chr7:21731675-21731676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572287402	chr7:21731679-21731680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189275114	chr7:21731693-21731694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147192782	chr7:21731765-21731766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140461413	chr7:21731770-21731771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75779689	chr7:21731807-21731808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563632057	chr7:21731818-21731819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74696832	chr7:21731826-21731827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552650131	chr7:21731873-21731874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79632625	chr7:21731896-21731897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528818799	chr7:21732037-21732038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21725000-21729200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:21731600-21732600	Enhancers	Brain Germinal Matrix	brain
3	chr7:21732200-21733000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:21732400-21733200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:21732600-21733000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:21732800-21733200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:21742000-21742400	Enhancers	Fetal Heart	heart
8	chr7:21744200-21744400	Enhancers	Fetal Brain Male	brain
9	chr7:21744200-21744400	Enhancers	Fetal Brain Female	brain
10	chr7:21744400-21745400	Weak transcription	Fetal Brain Female	brain
11	chr7:21744400-21745600	Weak transcription	Fetal Brain Male	brain
12	chr7:21745400-21746600	Enhancers	Fetal Brain Female	brain
13	chr7:21745600-21748600	Enhancers	Fetal Brain Male	brain
14	chr7:21746400-21747000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:21746600-21746800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:21746600-21747600	Weak transcription	Fetal Brain Female	brain
17	chr7:21747600-21747800	Enhancers	Fetal Brain Female	brain
18	chr7:21747800-21748400	Enhancers	Placenta	Placenta
19	chr7:21751200-21751400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:21751400-21752800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:21752800-21753000	ZNF genes & repeats	Aorta	Aorta
22	chr7:21752800-21753200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:21753000-21753200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:21753400-21754000	Weak transcription	Aorta	Aorta
25	chr7:21755200-21762000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:21757800-21758600	Enhancers	Fetal Lung	lung
27	chr7:21759400-21759800	Enhancers	Fetal Heart	heart
28	chr7:21759400-21759800	Enhancers	Left Ventricle	heart
29	chr7:21759800-21762600	Weak transcription	Fetal Heart	heart
30	chr7:21762600-21763000	Enhancers	Fetal Heart	heart
31	chr7:21772400-21772600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:21773200-21773800	Enhancers	Liver	Liver

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