Variant report

Variant	esv3436715
Chromosome Location	chr7:122064827-122070606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-3	chr7:122066015-122066265	ENSG00000240499.3
2	lnc-PTPRZ1-3	chr7:122066015-122066212	ENSG00000240499.3
3	lnc-PTPRZ1-4	chr7:122067230-122067495	ENSG00000228276.1

Extended variants
information (count: 215 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149701521	chr7:122064836-122064837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201595081	chr7:122064839-122064840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67930883	chr7:122064840-122064841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368728397	chr7:122064845-122064846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140598326	chr7:122064902-122064903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546439944	chr7:122064927-122064928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201537224	chr7:122064933-122064934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553743922	chr7:122064944-122064945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199773704	chr7:122065029-122065030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187702564	chr7:122065036-122065037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191190855	chr7:122065038-122065039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114291563	chr7:122065042-122065043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575266822	chr7:122065077-122065078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373319465	chr7:122065094-122065095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10266852	chr7:122065102-122065103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560726133	chr7:122065108-122065109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10251678	chr7:122065119-122065120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540123513	chr7:122065178-122065179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145853657	chr7:122065192-122065193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557737288	chr7:122065206-122065207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12706411	chr7:122065219-122065220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568406674	chr7:122065224-122065225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571564903	chr7:122065247-122065248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531013417	chr7:122065277-122065278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76636080	chr7:122065278-122065279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567851584	chr7:122065285-122065286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183261733	chr7:122065315-122065316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34926002	chr7:122065322-122065323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558536378	chr7:122065327-122065328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527674040	chr7:122065347-122065348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113817189	chr7:122065385-122065386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553610167	chr7:122065396-122065397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567127295	chr7:122065442-122065443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538981577	chr7:122065457-122065458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370066287	chr7:122065463-122065464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76429478	chr7:122065482-122065483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530517157	chr7:122065504-122065505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71159797	chr7:122065505-122065506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544550729	chr7:122065574-122065575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543898122	chr7:122065586-122065587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9886205	chr7:122065593-122065594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554282148	chr7:122065603-122065604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574203118	chr7:122065629-122065630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138867071	chr7:122065631-122065632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140757848	chr7:122065699-122065700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188531983	chr7:122065714-122065715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10270700	chr7:122065716-122065717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375554189	chr7:122065744-122065745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565279505	chr7:122065765-122065766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558367241	chr7:122065788-122065789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122007400-122073000	Weak transcription	Lung	lung
2	chr7:122013800-122081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:122022400-122095000	Weak transcription	Gastric	stomach
4	chr7:122047000-122155400	Weak transcription	Left Ventricle	heart
5	chr7:122055800-122071200	Weak transcription	Fetal Lung	lung
6	chr7:122056200-122122200	Weak transcription	Liver	Liver
7	chr7:122056600-122069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:122057000-122071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:122061200-122065800	Weak transcription	Pancreas	Pancrea
10	chr7:122061200-122095200	Weak transcription	Aorta	Aorta
11	chr7:122065800-122066400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:122066000-122066400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:122066000-122066400	Enhancers	HUVEC	blood vessel
14	chr7:122066400-122069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:122066400-122070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:122066400-122070000	Weak transcription	HUVEC	blood vessel
17	chr7:122068800-122069000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:122069000-122071400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:122069000-122078400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:122069200-122071600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:122069200-122072200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:122069400-122071800	Enhancers	Brain Germinal Matrix	brain
23	chr7:122069600-122071800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:122069600-122071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:122069600-122072400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:122069800-122071600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:122069800-122071800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:122069800-122072200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:122070000-122071200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:122070000-122071400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:122070000-122071800	Enhancers	HUVEC	blood vessel
32	chr7:122070200-122070400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:122070200-122070600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:122070200-122071200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:122070200-122071200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:122070200-122071200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:122070200-122071400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:122070200-122071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:122070200-122072000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:122070400-122071000	Enhancers	Brain Anterior Caudate	brain
41	chr7:122070400-122071200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:122070400-122074200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:122070600-122071400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:122070600-122071600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links