Variant report

Variant	nsv605997
Chromosome Location	chr7:5882645-5886435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:5883193-5883252	GM13976	blood:	n/a	n/a
2	POLR2A	chr7:5885050-5885071	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:5885184-5885316	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5883645-5883695	AoSMC	blood vessel:	n/a
2	chr7:5883645-5883695	CMK	blood:	n/a
3	chr7:5885244-5885294	AG09319	gingival:	n/a
4	chr7:5885244-5885294	HNPCEpiC	eye:	n/a
5	chr7:5883645-5883695	Jurkat	blood:	n/a
6	chr7:5883645-5883695	NHBE	bronchial:	n/a
7	chr7:5883645-5883695	NB4	blood:	n/a
8	chr7:5883645-5883695	BE2_C	brain:	n/a
9	chr7:5883645-5883695	AG10803	skin:	n/a
10	chr7:5885244-5885294	AG04449	skin:	fetal
11	chr7:5883645-5883695	IMR90	lung:	fetal
12	chr7:5883645-5883695	AG09319	gingival:	n/a
13	chr7:5883645-5883695	GM12878	blood:	n/a
14	chr7:5883645-5883695	Hela-S3	cervix:	n/a
15	chr7:5883645-5883695	SK-N-SH_RA	brain:	n/a
16	chr7:5885244-5885294	HRE	kidney:	n/a
17	chr7:5885244-5885294	ECC-1	luminal epithelium:	n/a
18	chr7:5885244-5885294	GM12878	blood:	n/a
19	chr7:5883645-5883695	HL-60	blood:	n/a
20	chr7:5885244-5885294	SAEC	small airway:	n/a
21	chr7:5885244-5885294	HIPEpiC	eye:	n/a
22	chr7:5885244-5885294	PrEC	prostate:	n/a
23	chr7:5883645-5883695	PFSK-1	brain:	n/a
24	chr7:5885244-5885294	HRPEpiC	eye:	n/a
25	chr7:5885244-5885294	Caco-2	colon:	n/a
26	chr7:5883645-5883695	SKMC	muscle:	n/a
27	chr7:5883645-5883695	NH-A	brain:	n/a
28	chr7:5883645-5883695	SK-N-MC	brain:	n/a
29	chr7:5883645-5883695	HAEpiC	amniotic membrane:	n/a
30	chr7:5885244-5885294	U87	brain:	n/a
31	chr7:5883645-5883695	HepG2	liver:	n/a
32	chr7:5883645-5883695	HUVEC	blood vessel:	n/a
33	chr7:5883645-5883695	HCF	heart:	n/a
34	chr7:5885244-5885294	HL-60	blood:	n/a
35	chr7:5885244-5885294	ProgFib	skin:	n/a
36	chr7:5885244-5885294	MCF10A-Er-Src	breast:	n/a
37	chr7:5885244-5885294	T-47D	breast:	n/a
38	chr7:5885244-5885294	MCF-7	breast:	n/a
39	chr7:5883645-5883695	ProgFib	skin:	n/a
40	chr7:5885244-5885294	AoSMC	blood vessel:	n/a
41	chr7:5883645-5883695	AG09309	skin:	n/a
42	chr7:5885244-5885294	LNCaP	prostate:	n/a
43	chr7:5883645-5883695	GM12891	blood:	n/a
44	chr7:5885244-5885294	SK-N-SH	brain:	n/a
45	chr7:5885244-5885294	HAEpiC	amniotic membrane:	n/a
46	chr7:5885244-5885294	SK-N-SH_RA	brain:	n/a
47	chr7:5883645-5883695	HIPEpiC	eye:	n/a
48	chr7:5885244-5885294	HCF	heart:	n/a
49	chr7:5883645-5883695	HCPEpiC	choroid plexus:	n/a
50	chr7:5883645-5883695	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5877107..5878733-chr7:5880762..5883645,2	K562	blood:
2	chr7:5875724..5878623-chr7:5880700..5882793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF815P	TF binding region
ZNF815P	CpG island

Extended variants
information (count: 251 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2240406	chr7:5882645-5882646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576061559	chr7:5882692-5882693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139426196	chr7:5882704-5882705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574393809	chr7:5882706-5882707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149557909	chr7:5882722-5882723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367841295	chr7:5882723-5882724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371281101	chr7:5882736-5882737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs308094	chr7:5882739-5882740	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572127724	chr7:5882759-5882760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546314103	chr7:5882761-5882762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370239555	chr7:5882782-5882783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564564057	chr7:5882796-5882797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60882759	chr7:5882800-5882801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373349454	chr7:5882814-5882815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140033944	chr7:5882840-5882841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529603017	chr7:5882849-5882850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143643544	chr7:5882850-5882851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556492376	chr7:5882865-5882866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs308093	chr7:5882867-5882868	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551892238	chr7:5882915-5882916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146819316	chr7:5882927-5882928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139296078	chr7:5882956-5882957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555756406	chr7:5882967-5882968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542517693	chr7:5882969-5882970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373971464	chr7:5883002-5883003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535771068	chr7:5883084-5883085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371127982	chr7:5883114-5883115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553767326	chr7:5883130-5883131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112142223	chr7:5883137-5883138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545678092	chr7:5883140-5883141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564229399	chr7:5883146-5883147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113865674	chr7:5883155-5883156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201527539	chr7:5883170-5883171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113013212	chr7:5883171-5883172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71008332	chr7:5883174-5883175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572460133	chr7:5883182-5883183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185952924	chr7:5883223-5883224	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs140865161	chr7:5883233-5883234	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190368380	chr7:5883234-5883235	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs183113447	chr7:5883248-5883249	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533620014	chr7:5883273-5883274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34206786	chr7:5883278-5883279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569789981	chr7:5883287-5883288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150173102	chr7:5883334-5883335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569873522	chr7:5883335-5883336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537571891	chr7:5883338-5883339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549444426	chr7:5883356-5883357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568082426	chr7:5883368-5883369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188245250	chr7:5883373-5883374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554084329	chr7:5883386-5883387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5863600-5896800	Weak transcription	Esophagus	oesophagus
2	chr7:5863800-5887000	Weak transcription	Primary B cells from cord blood	blood
3	chr7:5863800-5891400	Weak transcription	Liver	Liver
4	chr7:5863800-5891400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:5863800-5896200	Weak transcription	Adipose Nuclei	Adipose
6	chr7:5864200-5893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:5867600-5885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:5871400-5890600	Weak transcription	Brain Germinal Matrix	brain
9	chr7:5871400-5904600	Weak transcription	Spleen	Spleen
10	chr7:5871600-5889200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:5871600-5891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:5871600-5896400	Weak transcription	Fetal Brain Female	brain
13	chr7:5873200-5896200	Weak transcription	Lung	lung
14	chr7:5875400-5896600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:5876400-5896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:5877400-5896200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:5877600-5891400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:5878200-5888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:5878400-5886800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:5878600-5885400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:5878600-5885600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:5878600-5898000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:5878800-5889600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:5879000-5884600	Weak transcription	Brain Anterior Caudate	brain
25	chr7:5879200-5886200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:5879200-5886600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:5880800-5885200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:5881200-5883600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr7:5881400-5882800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:5881600-5882800	Strong transcription	Fetal Intestine Small	intestine
31	chr7:5881600-5883000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:5881600-5883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:5881600-5885000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:5881600-5886000	Strong transcription	Primary T cells from cord blood	blood
35	chr7:5881800-5885600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:5882000-5890800	Weak transcription	Fetal Stomach	stomach
37	chr7:5882200-5890800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:5882400-5888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:5882400-5896000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:5882400-5896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:5882400-5897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:5882600-5896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:5882800-5896800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:5882800-5896800	Weak transcription	Fetal Intestine Small	intestine
45	chr7:5883000-5889000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:5883000-5897400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:5883600-5883800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr7:5883600-5884400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:5884000-5888000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:5884400-5889800	Strong transcription	Primary monocytes fromperipheralblood	blood

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