Variant report

Variant	nsv971516
Chromosome Location	chr7:8278805-8290307
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	BACH1	chr7:8290259-8290459	K562	blood:	n/a	n/a
2	BACH1	chr7:8285895-8286015	K562	blood:	n/a	n/a
3	CBX3	chr7:8282737-8283003	K562	blood:	n/a	n/a
4	CTCF	chr7:8289520-8289670	GM12864	blood:	n/a	n/a
5	FOSL2	chr7:8279339-8279626	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:8279279-8279664	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:8279323-8279675	T-47D	breast:	n/a	n/a
8	FOXA1	chr7:8279318-8279689	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:8279233-8279698	HepG2	liver:	n/a	n/a
10	FOXA1	chr7:8279220-8279685	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:8279287-8279614	T-47D	breast:	n/a	n/a
12	FOXA2	chr7:8279172-8279642	A549	lung:	n/a	n/a
13	FOXA2	chr7:8279362-8279639	HepG2	liver:	n/a	n/a
14	IRF1	chr7:8289452-8289515	K562	blood:	n/a	n/a
15	MAFF	chr7:8285659-8286188	K562	blood:	n/a	chr7:8285844-8285862
16	MAFF	chr7:8290209-8290535	HepG2	liver:	n/a	chr7:8290374-8290392
17	MAFF	chr7:8290223-8290530	K562	blood:	n/a	chr7:8290374-8290392
18	MAFF	chr7:8285609-8286245	HepG2	liver:	n/a	chr7:8285844-8285862
19	MAFK	chr7:8285800-8286204	Hela-S3	cervix:	n/a	chr7:8286109-8286126 chr7:8285850-8285861 chr7:8285850-8285861 chr7:8285845-8285861 chr7:8285845-8285860
20	MAFK	chr7:8285658-8286216	HepG2	liver:	n/a	chr7:8286109-8286126 chr7:8285850-8285861 chr7:8285850-8285861 chr7:8285845-8285861 chr7:8285845-8285860
21	MAFK	chr7:8285672-8286200	IMR90	lung:	n/a	chr7:8286109-8286126 chr7:8285850-8285861 chr7:8285850-8285861 chr7:8285845-8285861 chr7:8285845-8285860
22	MAFK	chr7:8285667-8286246	K562	blood:	n/a	chr7:8286109-8286126 chr7:8285850-8285861 chr7:8285850-8285861 chr7:8285845-8285861 chr7:8285845-8285860
23	MAFK	chr7:8289972-8290552	HepG2	liver:	n/a	chr7:8290377-8290386 chr7:8290380-8290391 chr7:8290379-8290390 chr7:8290380-8290391 chr7:8290375-8290390 chr7:8289985-8289994 chr7:8290378-8290392 chr7:8290375-8290391
24	MAFK	chr7:8290236-8290499	K562	blood:	n/a	chr7:8290377-8290386 chr7:8290380-8290391 chr7:8290379-8290390 chr7:8290380-8290391 chr7:8290375-8290390 chr7:8290378-8290392 chr7:8290375-8290391
25	MAFK	chr7:8290246-8290531	IMR90	lung:	n/a	chr7:8290377-8290386 chr7:8290380-8290391 chr7:8290379-8290390 chr7:8290380-8290391 chr7:8290375-8290390 chr7:8290378-8290392 chr7:8290375-8290391
26	MAFK	chr7:8285609-8286282	HepG2	liver:	n/a	chr7:8286109-8286126 chr7:8285850-8285861 chr7:8285850-8285861 chr7:8285845-8285861 chr7:8285845-8285860
27	MAFK	chr7:8290223-8290536	HepG2	liver:	n/a	chr7:8290377-8290386 chr7:8290380-8290391 chr7:8290379-8290390 chr7:8290380-8290391 chr7:8290375-8290390 chr7:8290378-8290392 chr7:8290375-8290391
28	MAZ	chr7:8279455-8279490	HepG2	liver:	n/a	n/a
29	MYC	chr7:8279440-8279524	MCF-7	breast:	n/a	n/a
30	MYC	chr7:8279395-8279432	MCF-7	breast:	n/a	n/a
31	MYC	chr7:8279380-8279470	MCF-7	breast:	n/a	n/a
32	MYC	chr7:8279508-8279520	HepG2	liver:	n/a	n/a
33	MYC	chr7:8279372-8279524	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:8287762-8287962	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr7:8279293-8279299	MCF-7	breast:	n/a	n/a
36	POLR2A	chr7:8279348-8279364	A549	lung:	n/a	n/a
37	POLR2A	chr7:8285670-8285735	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr7:8279346-8279529	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:8289206-8289258	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:8285680-8286207	K562	blood:	n/a	n/a
41	POLR2A	chr7:8279366-8279598	A549	lung:	n/a	n/a
42	POLR2A	chr7:8284482-8284635	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:8287117-8287780	K562	blood:	n/a	n/a
44	POLR2A	chr7:8288317-8290191	K562	blood:	n/a	n/a
45	POLR2A	chr7:8285615-8285700	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:8288084-8288106	K562	blood:	n/a	n/a
47	POLR2A	chr7:8289595-8289648	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:8279316-8279545	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:8279200-8279230	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:8288817-8288874	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:8282948..8287398-chr7:8300381..8302235,4	K562	blood:
2	chr6:26361510..26363442-chr7:8287254..8289999,2	MCF-7	breast:
3	chr7:8283296..8285798-chr7:8310323..8312776,2	K562	blood:
4	chr7:8285366..8287657-chr7:8296410..8298563,2	K562	blood:
5	chr7:8287605..8290341-chr7:8300139..8302051,2	K562	blood:
6	chr7:8288861..8290648-chr7:8293603..8295601,2	MCF-7	breast:
7	chr7:8284762..8287625-chr7:8298919..8300747,2	MCF-7	breast:

Variant related genes	Relation type
ICA1	TF binding region
ENSG00000244239	chromatin interactions
ENSG00000229970	chromatin interactions
ENSG00000003147	chromatin interactions

Extended variants
information (count: 505 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192130978	chr7:8278830-8278831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566254717	chr7:8278886-8278887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532478768	chr7:8278901-8278902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185056197	chr7:8278968-8278969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533523604	chr7:8278984-8278985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189388936	chr7:8279022-8279023	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577825926	chr7:8279046-8279047	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs180951739	chr7:8279114-8279115	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62433202	chr7:8279166-8279167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566959601	chr7:8279209-8279210	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534443875	chr7:8279213-8279214	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184171408	chr7:8279243-8279244	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114264282	chr7:8279251-8279252	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537908857	chr7:8279252-8279253	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556219026	chr7:8279253-8279254	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574440737	chr7:8279256-8279257	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112501132	chr7:8279283-8279284	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371939435	chr7:8279328-8279329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554078075	chr7:8279381-8279382	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189882551	chr7:8279384-8279385	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181102653	chr7:8279417-8279418	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs6978888	chr7:8279420-8279421	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186530617	chr7:8279428-8279429	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs6977833	chr7:8279440-8279441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544270758	chr7:8279452-8279453	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562544740	chr7:8279453-8279454	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529995687	chr7:8279473-8279474	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548166068	chr7:8279518-8279519	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142999670	chr7:8279540-8279541	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs199593583	chr7:8279563-8279564	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs527954011	chr7:8279578-8279579	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190659110	chr7:8279627-8279628	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570931608	chr7:8279645-8279646	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181485060	chr7:8279706-8279707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549863517	chr7:8279712-8279713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548784315	chr7:8279740-8279741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568153796	chr7:8279764-8279765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535491127	chr7:8279769-8279770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553467686	chr7:8279771-8279772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151117232	chr7:8279785-8279786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539320010	chr7:8279814-8279815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367831749	chr7:8279839-8279840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376179959	chr7:8279840-8279841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141051323	chr7:8279852-8279853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56733942	chr7:8279868-8279869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113893411	chr7:8279869-8279870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557952930	chr7:8279878-8279879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9655065	chr7:8279888-8279889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544307555	chr7:8279931-8279932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562682362	chr7:8279963-8279964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Williams Syndrome	20824207	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Depressive disorder	21152026	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8249800-8279000	Weak transcription	Spleen	Spleen
2	chr7:8252600-8279400	Weak transcription	Placenta	Placenta
3	chr7:8255200-8279000	Weak transcription	Pancreas	Pancrea
4	chr7:8257200-8300200	Weak transcription	Fetal Stomach	stomach
5	chr7:8260600-8279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:8261200-8279000	Weak transcription	Right Ventricle	heart
7	chr7:8262800-8284400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:8267600-8300400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:8269400-8289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:8271000-8279200	Weak transcription	Lung	lung
11	chr7:8271400-8279000	Weak transcription	Right Atrium	heart
12	chr7:8272400-8294200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8273200-8294000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:8273800-8279200	Weak transcription	Gastric	stomach
15	chr7:8274000-8279000	Weak transcription	Liver	Liver
16	chr7:8274000-8279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:8274200-8279200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:8276800-8285600	Weak transcription	K562	blood
19	chr7:8277000-8279000	Weak transcription	Left Ventricle	heart
20	chr7:8279000-8279200	Enhancers	Liver	Liver
21	chr7:8279000-8279400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:8279000-8279400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:8279000-8279400	Enhancers	Right Atrium	heart
24	chr7:8279000-8279400	ZNF genes & repeats	Spleen	Spleen
25	chr7:8279000-8279600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:8279000-8279600	Enhancers	Pancreas	Pancrea
27	chr7:8279000-8279800	Enhancers	Left Ventricle	heart
28	chr7:8279000-8280400	Enhancers	Right Ventricle	heart
29	chr7:8279200-8279400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:8279200-8279400	Enhancers	HepG2	liver
31	chr7:8279200-8279600	Flanking Active TSS	Liver	Liver
32	chr7:8279200-8279600	Enhancers	Gastric	stomach
33	chr7:8279200-8279600	Enhancers	Lung	lung
34	chr7:8279400-8279600	Enhancers	Placenta	Placenta
35	chr7:8279400-8279800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:8279600-8280400	Enhancers	Stomach Mucosa	stomach
37	chr7:8279600-8280600	Enhancers	Liver	Liver
38	chr7:8279600-8289000	Weak transcription	Gastric	stomach
39	chr7:8279600-8293800	Weak transcription	Pancreas	Pancrea
40	chr7:8279800-8280000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:8284400-8284800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr7:8284800-8285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:8284800-8285600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:8285200-8298800	Weak transcription	Fetal Intestine Large	intestine
45	chr7:8285600-8286000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:8285600-8286000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:8285600-8286200	Enhancers	K562	blood
48	chr7:8286000-8289000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:8286000-8290600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr7:8286200-8299000	Weak transcription	K562	blood

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