Variant report

Variant	nsv967495
Chromosome Location	chr7:121660234-121666665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:121664779-121664800	GM20000	blood:	n/a	n/a
2	E2F4	chr7:121664080-121664364	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr7:121663985-121664107	HepG2	liver:	n/a	chr7:121664049-121664060 chr7:121664049-121664060 chr7:121664048-121664062
4	MAFK	chr7:121663959-121664107	HepG2	liver:	n/a	chr7:121664049-121664060 chr7:121664049-121664060 chr7:121664048-121664062
5	MYC	chr7:121660893-121660965	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:121661640-121661730	Gliobla	brain:	n/a	n/a
7	POLR2A	chr7:121661677-121661777	A549	lung:	n/a	n/a
8	POLR2A	chr7:121664006-121664144	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121660575-121660625	AG04450	lung:	fetal
2	chr7:121660575-121660625	Hela-S3	cervix:	n/a
3	chr7:121660575-121660625	SAEC	small airway:	n/a
4	chr7:121660575-121660625	HCM	heart:	n/a
5	chr7:121660575-121660625	IMR90	lung:	fetal
6	chr7:121660575-121660625	HIPEpiC	eye:	n/a
7	chr7:121660575-121660625	HCPEpiC	choroid plexus:	n/a
8	chr7:121660575-121660625	AoSMC	blood vessel:	n/a
9	chr7:121660575-121660625	AG04449	skin:	fetal
10	chr7:121660575-121660625	SK-N-SH	brain:	n/a
11	chr7:121660575-121660625	RPTEC	kidney:	n/a
12	chr7:121660575-121660625	AG10803	skin:	n/a
13	chr7:121660575-121660625	Jurkat	blood:	n/a
14	chr7:121660575-121660625	LNCaP	prostate:	n/a
15	chr7:121660575-121660625	NHBE	bronchial:	n/a
16	chr7:121660575-121660625	HRCEpiC	kidney:	n/a
17	chr7:121660575-121660625	HNPCEpiC	eye:	n/a
18	chr7:121660575-121660625	SK-N-MC	brain:	n/a
19	chr7:121660575-121660625	HL-60	blood:	n/a
20	chr7:121660575-121660625	U87	brain:	n/a
21	chr7:121660575-121660625	HCF	heart:	n/a
22	chr7:121660575-121660625	GM19239	blood:	n/a
23	chr7:121660575-121660625	HUVEC	blood vessel:	n/a
24	chr7:121660575-121660625	BJ	skin:	n/a
25	chr7:121660575-121660625	NT2-D1	testis:	n/a
26	chr7:121660575-121660625	MCF-7	breast:	n/a
27	chr7:121660575-121660625	AG09309	skin:	n/a
28	chr7:121660575-121660625	MCF10A-Er-Src	breast:	n/a
29	chr7:121660575-121660625	BE2_C	brain:	n/a
30	chr7:121660575-121660625	PFSK-1	brain:	n/a
31	chr7:121660575-121660625	NH-A	brain:	n/a
32	chr7:121660575-121660625	GM12878	blood:	n/a
33	chr7:121660575-121660625	T-47D	breast:	n/a
34	chr7:121660575-121660625	Caco-2	colon:	n/a
35	chr7:121660575-121660625	HAEpiC	amniotic membrane:	n/a
36	chr7:121660575-121660625	ovcar-3	ovarian:	n/a
37	chr7:121660575-121660625	K562	blood:	n/a
38	chr7:121660575-121660625	SK-N-SH_RA	brain:	n/a
39	chr7:121660575-121660625	GM06990	blood:	n/a
40	chr7:121660575-121660625	HCT-116	colon:	n/a
41	chr7:121660575-121660625	HEEpiC	esophagus:	n/a
42	chr7:121660575-121660625	A549	lung:	n/a
43	chr7:121660575-121660625	HepG2	liver:	n/a
44	chr7:121660575-121660625	GM12891	blood:	n/a
45	chr7:121660575-121660625	HEK293	kidney:	embryo
46	chr7:121660575-121660625	HRE	kidney:	n/a
47	chr7:121660575-121660625	GM12892	blood:	n/a
48	chr7:121660575-121660625	SKMC	muscle:	n/a
49	chr7:121660575-121660625	HMEC	breast:	n/a
50	chr7:121660575-121660625	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
PTPRZ1	TF binding region
PTPRZ1	CpG island

Extended variants
information (count: 189 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574560419	chr7:121660251-121660252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540256091	chr7:121660262-121660263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180837599	chr7:121660291-121660292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573089902	chr7:121660302-121660303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7808078	chr7:121660334-121660335	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564980572	chr7:121660479-121660480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530741812	chr7:121660565-121660566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1147503	chr7:121660578-121660579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560987455	chr7:121660591-121660592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186516883	chr7:121660600-121660601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546650403	chr7:121660623-121660624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554722380	chr7:121660628-121660629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144576114	chr7:121660686-121660687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191419352	chr7:121660711-121660712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539008449	chr7:121660748-121660749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372637723	chr7:121660787-121660788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183057116	chr7:121660790-121660791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201782662	chr7:121660881-121660882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199564076	chr7:121660882-121660883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200896129	chr7:121660887-121660888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67717638	chr7:121660888-121660889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538449974	chr7:121660889-121660890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398095344	chr7:121660894-121660895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1147502	chr7:121660930-121660931	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs574623428	chr7:121661142-121661143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75109749	chr7:121661152-121661153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72058613	chr7:121661198-121661199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534013890	chr7:121661210-121661211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553790179	chr7:121661220-121661221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576901633	chr7:121661232-121661233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577166946	chr7:121661235-121661236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10263099	chr7:121661269-121661270	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185935403	chr7:121661290-121661291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576256790	chr7:121661330-121661331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575419587	chr7:121661364-121661365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543725465	chr7:121661379-121661380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77449094	chr7:121661393-121661394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561045382	chr7:121661399-121661400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142253604	chr7:121661403-121661404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546713654	chr7:121661419-121661420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559943861	chr7:121661473-121661474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191098342	chr7:121661493-121661494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551854519	chr7:121661535-121661536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562426645	chr7:121661541-121661542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569558255	chr7:121661607-121661608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151282733	chr7:121661634-121661635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565055847	chr7:121661637-121661638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548409264	chr7:121661688-121661689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568305721	chr7:121661728-121661729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531959985	chr7:121661793-121661794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121652200-121679000	Weak transcription	NHEK	skin
4	chr7:121652400-121683200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121653800-121670200	Weak transcription	Fetal Brain Male	brain
6	chr7:121653800-121672600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:121653800-121673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:121654000-121661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:121654000-121664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:121654000-121672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:121654000-121672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:121654000-121673200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:121654000-121675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:121654000-121675600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:121654000-121679000	Weak transcription	Fetal Brain Female	brain
16	chr7:121654000-121679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:121654200-121671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:121655600-121699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:121656800-121661800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121657600-121663000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:121659200-121662000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:121660000-121664000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:121661200-121662200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:121661800-121664000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:121662000-121664000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:121662200-121666600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:121663000-121663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:121663800-121705600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:121664000-121664600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:121664000-121665200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:121664000-121665400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:121664000-121669000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:121664600-121668200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:121665200-121666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:121665400-121667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:121666000-121667400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:121666600-121667000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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