Variant report

Variant	nsv966881
Chromosome Location	chr7:121869519-121884667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:121878353-121878599	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:121878401-121879106	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr7:121878882-121879118	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr7:121875882-121876016	GM20000	blood:	n/a	n/a
5	CTCF	chr7:121873140-121873166	GM20000	blood:	n/a	n/a
6	CTCF	chr7:121873549-121873594	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr7:121873571-121873599	MCF-7	breast:	n/a	n/a
8	ELF1	chr7:121878260-121878663	HCT-116	colon:	n/a	n/a
9	FOS	chr7:121871537-121871781	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:121870784-121870983	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:121870893-121871013	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:121870797-121870950	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr7:121871586-121871706	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:121870802-121871070	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA1	chr7:121878931-121879175	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:121880926-121881214	HepG2	liver:	n/a	n/a
17	FOXA1	chr7:121878743-121879167	HepG2	liver:	n/a	n/a
18	FOXA1	chr7:121878902-121879170	HepG2	liver:	n/a	n/a
19	FOXA1	chr7:121878915-121879165	T-47D	breast:	n/a	n/a
20	FOXA1	chr7:121878905-121879152	HepG2	liver:	n/a	n/a
21	FOXA1	chr7:121878834-121879153	T-47D	breast:	n/a	n/a
22	FOXA2	chr7:121878680-121879290	A549	lung:	n/a	n/a
23	FOXA2	chr7:121878905-121879154	HepG2	liver:	n/a	n/a
24	FOXA2	chr7:121878809-121879263	A549	lung:	n/a	n/a
25	GTF2F1	chr7:121878508-121878751	Hela-S3	cervix:	n/a	n/a
26	HEY1	chr7:121878491-121878645	HepG2	liver:	n/a	n/a
27	HEY1	chr7:121878837-121879124	HepG2	liver:	n/a	n/a
28	HEY1	chr7:121878855-121879110	HepG2	liver:	n/a	n/a
29	JUND	chr7:121871480-121871801	HepG2	liver:	n/a	chr7:121871641-121871652
30	JUND	chr7:121870794-121871042	HepG2	liver:	n/a	chr7:121870900-121870911
31	MAX	chr7:121878285-121879090	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:121878836-121879145	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:121878884-121879094	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:121878884-121879093	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:121878552-121879071	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:121884281-121884414	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:121878915-121879097	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:121878914-121879102	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:121878860-121879151	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:121878927-121879079	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:121878419-121878663	HCT-116	colon:	n/a	n/a
42	POLR2A	chr7:121878507-121878818	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:121878831-121879157	HCT-116	colon:	n/a	n/a
44	POLR2A	chr7:121878917-121879072	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:121878572-121878874	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:121877830-121879181	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:121878846-121879232	HCT-116	colon:	n/a	n/a
48	POLR2A	chr7:121878912-121879078	K562	blood:	n/a	n/a
49	POLR2A	chr7:121878483-121878751	HCT-116	colon:	n/a	n/a
50	POLR2A	chr7:121878535-121879070	HepG2	liver:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121878634-121878684	Hela-S3	cervix:	n/a
2	chr7:121878634-121878684	Hela-S3	cervix:	n/a
3	chr7:121878634-121878684	HEEpiC	esophagus:	n/a
4	chr7:121878634-121878684	HCPEpiC	choroid plexus:	n/a
5	chr7:121878634-121878684	NHBE	bronchial:	n/a
6	chr7:121878634-121878684	LNCaP	prostate:	n/a
7	chr7:121878634-121878684	AG10803	skin:	n/a
8	chr7:121878634-121878684	K562	blood:	n/a
9	chr7:121878634-121878684	CMK	blood:	n/a
10	chr7:121878634-121878684	GM12878	blood:	n/a
11	chr7:121878634-121878684	PrEC	prostate:	n/a
12	chr7:121878634-121878684	AG09319	gingival:	n/a
13	chr7:121878634-121878684	PANC-1	pancreas:	n/a
14	chr7:121878634-121878684	Jurkat	blood:	n/a
15	chr7:121878634-121878684	HL-60	blood:	n/a
16	chr7:121878634-121878684	ECC-1	luminal epithelium:	n/a
17	chr7:121878634-121878684	T-47D	breast:	n/a
18	chr7:121878634-121878684	SK-N-MC	brain:	n/a
19	chr7:121878634-121878684	RPTEC	kidney:	n/a
20	chr7:121878634-121878684	HNPCEpiC	eye:	n/a
21	chr7:121878634-121878684	HCF	heart:	n/a
22	chr7:121878634-121878684	HepG2	liver:	n/a
23	chr7:121878634-121878684	HCT-116	colon:	n/a
24	chr7:121878634-121878684	Caco-2	colon:	n/a
25	chr7:121878634-121878684	A549	lung:	n/a
26	chr7:121878634-121878684	HRPEpiC	eye:	n/a
27	chr7:121878634-121878684	H1-hESC	embryonic stem cell:	embryo
28	chr7:121878634-121878684	MCF10A-Er-Src	breast:	n/a
29	chr7:121878634-121878684	HUVEC	blood vessel:	n/a
30	chr7:121878634-121878684	AG04449	skin:	fetal
31	chr7:121878634-121878684	GM06990	blood:	n/a
32	chr7:121878634-121878684	GM12892	blood:	n/a
33	chr7:121878634-121878684	HEK293	kidney:	embryo
34	chr7:121878634-121878684	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:121878634-121878684	NHDF-neo	bronchial:	n/a
36	chr7:121878634-121878684	MCF-7	breast:	n/a
37	chr7:121878634-121878684	IMR90	lung:	fetal
38	chr7:121878634-121878684	PFSK-1	brain:	n/a
39	chr7:121878634-121878684	GM12891	blood:	n/a
40	chr7:121878634-121878684	AoSMC	blood vessel:	n/a
41	chr7:121878634-121878684	GM19239	blood:	n/a
42	chr7:121878634-121878684	HMEC	breast:	n/a
43	chr7:121878634-121878684	AG04450	lung:	fetal
44	chr7:121878634-121878684	SK-N-SH	brain:	n/a
45	chr7:121878634-121878684	SKMC	muscle:	n/a
46	chr7:121878634-121878684	Hepatocyte	liver:	n/a
47	chr7:121878634-121878684	ovcar-3	ovarian:	n/a
48	chr7:121878634-121878684	SK-N-SH_RA	brain:	n/a
49	chr7:121878634-121878684	AG09309	skin:	n/a
50	chr7:121878634-121878684	HAEpiC	amniotic membrane:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-10	chr7:121874585-121874957	NONHSAT123024

No data

Variant related genes	Relation type
ENSG00000213302	TF binding region
ENSG00000213302	CpG island

Extended variants
information (count: 277 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:277 , 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	rs149184308	chr7:121870810-121870811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191351275	chr7:121870832-121870833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565615249	chr7:121870927-121870928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534644349	chr7:121870935-121870936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs369396727	chr7:121870939-121870940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559944240	chr7:121870976-121870977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373931312	chr7:121870993-121870994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs496031	chr7:121871004-121871005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569331567	chr7:121871015-121871016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75093086	chr7:121871517-121871518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533896540	chr7:121871572-121871573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565578123	chr7:121871584-121871585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554252062	chr7:121871692-121871693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371233690	chr7:121871707-121871708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181629023	chr7:121871708-121871709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs11521039	chr7:121871721-121871722	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147952687	chr7:121871741-121871742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2586973	chr7:121873151-121873152	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572924803	chr7:121873576-121873577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73440185	chr7:121874599-121874600	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573490858	chr7:121874630-121874631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554837809	chr7:121874632-121874633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs574774206	chr7:121874652-121874653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs115769184	chr7:121874666-121874667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs559439608	chr7:121874667-121874668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528494883	chr7:121874705-121874706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545135164	chr7:121874713-121874714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs183303778	chr7:121874714-121874715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs530949214	chr7:121874740-121874741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs185447832	chr7:121874786-121874787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs567568816	chr7:121874787-121874788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs540268902	chr7:121874804-121874805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs505005	chr7:121874829-121874830	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547282017	chr7:121874831-121874832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs661702	chr7:121874836-121874837	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540904615	chr7:121874842-121874843	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs148499375	chr7:121874843-121874844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10243816	chr7:121874877-121874878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs114083693	chr7:121874912-121874913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189811669	chr7:121874914-121874915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs568957110	chr7:121874921-121874922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs537980201	chr7:121874926-121874927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs10273487	chr7:121874932-121874933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs554800606	chr7:121874944-121874945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554162255	chr7:121877449-121877450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570940766	chr7:121877456-121877457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186432360	chr7:121877566-121877567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145459733	chr7:121877585-121877586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576721266	chr7:121877618-121877619	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189866884	chr7:121877644-121877645	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121877400-121877600	Enhancers	Hela-S3	cervix
2	chr7:121877600-121878000	Flanking Active TSS	Hela-S3	cervix
3	chr7:121877800-121878600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:121877800-121878800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:121878000-121879000	Active TSS	Hela-S3	cervix
6	chr7:121878200-121878800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:121878200-121878800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:121878200-121878800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:121878200-121878800	Active TSS	HepG2	liver
10	chr7:121878200-121879000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:121878200-121879000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:121878200-121879000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:121878200-121879200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:121878600-121879000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:121878600-121879000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:121878600-121879000	Active TSS	Placenta	Placenta
17	chr7:121879000-121879200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:121879000-121894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links