Variant report

Variant	nsv8035
Chromosome Location	chr7:5881296-5888516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 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	CTCF	chr7:5887261-5887329	GM13976	blood:	n/a	n/a
3	CTCF	chr7:5888322-5888393	GM13976	blood:	n/a	n/a
4	MYC	chr7:5887331-5887392	MCF-7	breast:	n/a	n/a
5	MYC	chr7:5887536-5887680	GM12878	blood:	n/a	n/a
6	PAX5	chr7:5886877-5887310	GM12878	blood:	n/a	n/a
7	PAX5	chr7:5886958-5887229	GM12878	blood:	n/a	n/a
8	PAX5	chr7:5886978-5887170	GM12878	blood:	n/a	n/a
9	PAX5	chr7:5886793-5887376	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:5885184-5885316	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:5886716-5886719	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:5887510-5887554	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:5886985-5886993	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:5887139-5887178	K562	blood:	n/a	n/a
15	POLR2A	chr7:5886994-5887029	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:5886731-5886809	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:5886866-5886872	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:5887251-5887353	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:5886651-5886665	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:5885050-5885071	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:5886672-5886675	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:5886720-5886862	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:5886812-5886872	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:5886713-5886730	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:5887179-5887185	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:5887115-5887125	K562	blood:	n/a	n/a
27	POLR2A	chr7:5887167-5887175	MCF-7	breast:	n/a	n/a
28	USF1	chr7:5886487-5886618	HepG2	liver:	n/a	chr7:5886574-5886585
29	USF1	chr7:5886442-5886662	HepG2	liver:	n/a	chr7:5886574-5886585

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5885244-5885294	SK-N-SH	brain:	n/a
2	chr7:5885244-5885294	SK-N-SH	brain:	n/a
3	chr7:5887023-5887073	HCPEpiC	choroid plexus:	n/a
4	chr7:5887023-5887073	HEK293	kidney:	embryo
5	chr7:5886722-5886772	HEK293	kidney:	embryo
6	chr7:5887023-5887073	HAEpiC	amniotic membrane:	n/a
7	chr7:5886722-5886772	ProgFib	skin:	n/a
8	chr7:5883645-5883695	MCF10A-Er-Src	breast:	n/a
9	chr7:5885244-5885294	PFSK-1	brain:	n/a
10	chr7:5888077-5888127	NH-A	brain:	n/a
11	chr7:5887023-5887073	BJ	skin:	n/a
12	chr7:5885244-5885294	GM12892	blood:	n/a
13	chr7:5887023-5887073	LNCaP	prostate:	n/a
14	chr7:5886722-5886772	H1-hESC	embryonic stem cell:	embryo
15	chr7:5888077-5888127	GM19239	blood:	n/a
16	chr7:5883645-5883695	HRCEpiC	kidney:	n/a
17	chr7:5883645-5883695	A549	lung:	n/a
18	chr7:5883645-5883695	ovcar-3	ovarian:	n/a
19	chr7:5888077-5888127	Jurkat	blood:	n/a
20	chr7:5887023-5887073	HEEpiC	esophagus:	n/a
21	chr7:5887023-5887073	HUVEC	blood vessel:	n/a
22	chr7:5883645-5883695	HCPEpiC	choroid plexus:	n/a
23	chr7:5887023-5887073	AG10803	skin:	n/a
24	chr7:5883645-5883695	GM19239	blood:	n/a
25	chr7:5888077-5888127	HCT-116	colon:	n/a
26	chr7:5883645-5883695	SAEC	small airway:	n/a
27	chr7:5886722-5886772	SK-N-SH	brain:	n/a
28	chr7:5883645-5883695	PANC-1	pancreas:	n/a
29	chr7:5886722-5886772	MCF10A-Er-Src	breast:	n/a
30	chr7:5887023-5887073	Hepatocyte	liver:	n/a
31	chr7:5885244-5885294	HAEpiC	amniotic membrane:	n/a
32	chr7:5886722-5886772	IMR90	lung:	fetal
33	chr7:5885244-5885294	MCF10A-Er-Src	breast:	n/a
34	chr7:5888077-5888127	HRPEpiC	eye:	n/a
35	chr7:5883645-5883695	U87	brain:	n/a
36	chr7:5888077-5888127	HAEpiC	amniotic membrane:	n/a
37	chr7:5885244-5885294	AG10803	skin:	n/a
38	chr7:5883645-5883695	ECC-1	luminal epithelium:	n/a
39	chr7:5887023-5887073	AoSMC	blood vessel:	n/a
40	chr7:5888077-5888127	HMEC	breast:	n/a
41	chr7:5886722-5886772	PrEC	prostate:	n/a
42	chr7:5887023-5887073	NHDF-neo	bronchial:	n/a
43	chr7:5886722-5886772	AG04449	skin:	fetal
44	chr7:5888077-5888127	HepG2	liver:	n/a
45	chr7:5885244-5885294	HEEpiC	esophagus:	n/a
46	chr7:5886722-5886772	SK-N-SH_RA	brain:	n/a
47	chr7:5886722-5886772	BE2_C	brain:	n/a
48	chr7:5888077-5888127	HUVEC	blood vessel:	n/a
49	chr7:5888077-5888127	PFSK-1	brain:	n/a
50	chr7:5885244-5885294	HRCEpiC	kidney:	n/a

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

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

No data

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

Extended variants
information (count: 476 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17135834	chr7:5881297-5881298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116964157	chr7:5881298-5881299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs112214150	chr7:5881301-5881302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186438311	chr7:5881333-5881334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200096030	chr7:5881344-5881345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369248014	chr7:5881353-5881354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13236479	chr7:5881354-5881355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189292686	chr7:5881395-5881396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142843384	chr7:5881429-5881430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568669257	chr7:5881432-5881433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536360794	chr7:5881440-5881441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377463834	chr7:5881486-5881487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548247398	chr7:5881510-5881511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374478212	chr7:5881517-5881518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75027983	chr7:5881542-5881543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151057925	chr7:5881549-5881550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370291657	chr7:5881562-5881563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534182085	chr7:5881581-5881582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10251193	chr7:5881601-5881602	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557480046	chr7:5881646-5881647	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140094445	chr7:5881658-5881659	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544490438	chr7:5881664-5881665	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577470197	chr7:5881694-5881695	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10251333	chr7:5881709-5881710	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10251444	chr7:5881731-5881732	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556812363	chr7:5881732-5881733	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575051188	chr7:5881735-5881736	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs308096	chr7:5881748-5881749	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143710713	chr7:5881774-5881775	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371433498	chr7:5881792-5881793	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138100114	chr7:5881839-5881840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77501881	chr7:5881840-5881841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200989781	chr7:5881855-5881856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372755483	chr7:5881857-5881858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12670021	chr7:5881867-5881868	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180891920	chr7:5881876-5881877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146716533	chr7:5881880-5881881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60388674	chr7:5881901-5881902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532280129	chr7:5881913-5881914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544065641	chr7:5881924-5881925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562361727	chr7:5881942-5881943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529816570	chr7:5881964-5881965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369957399	chr7:5882005-5882006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186434584	chr7:5882016-5882017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10251858	chr7:5882048-5882049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550318648	chr7:5882052-5882053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35363040	chr7:5882066-5882067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527730331	chr7:5882076-5882077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531492180	chr7:5882095-5882096	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373524782	chr7:5882106-5882107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5863600-5896800	Weak transcription	Esophagus	oesophagus
2	chr7:5863800-5881600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:5863800-5887000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:5863800-5891400	Weak transcription	Liver	Liver
5	chr7:5863800-5891400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:5863800-5896200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:5864200-5893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:5867600-5885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:5869200-5881600	Weak transcription	Fetal Stomach	stomach
10	chr7:5871200-5882600	Weak transcription	Fetal Brain Male	brain
11	chr7:5871400-5890600	Weak transcription	Brain Germinal Matrix	brain
12	chr7:5871400-5904600	Weak transcription	Spleen	Spleen
13	chr7:5871600-5889200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:5871600-5891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:5871600-5896400	Weak transcription	Fetal Brain Female	brain
16	chr7:5873200-5896200	Weak transcription	Lung	lung
17	chr7:5873800-5881600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:5874400-5881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:5875400-5896600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:5876400-5896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:5877200-5881600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:5877400-5881600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:5877400-5881600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:5877400-5896200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:5877600-5891400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:5878200-5888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:5878400-5886800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:5878600-5885400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:5878600-5885600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:5878600-5898000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:5878800-5881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:5878800-5882200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:5878800-5889600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:5879000-5881400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:5879000-5881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:5879000-5884600	Weak transcription	Brain Anterior Caudate	brain
37	chr7:5879200-5881600	Weak transcription	Primary T cells from cord blood	blood
38	chr7:5879200-5881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:5879200-5886200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:5879200-5886600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:5880400-5882400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:5880800-5885200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:5881200-5883600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:5881400-5882800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:5881600-5881800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:5881600-5882000	Strong transcription	Fetal Stomach	stomach
47	chr7:5881600-5882400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:5881600-5882400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:5881600-5882400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:5881600-5882600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links