Variant report

Variant	nsv1022267
Chromosome Location	chr7:14551894-14607627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:
2	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:

Extended variants
information (count: 663 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151249666	chr7:14561609-14561610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185921117	chr7:14561621-14561622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376944210	chr7:14561623-14561624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191827676	chr7:14561633-14561634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539457474	chr7:14561640-14561641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555865887	chr7:14561642-14561643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569781766	chr7:14561645-14561646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535192160	chr7:14561648-14561649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184068462	chr7:14561651-14561652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574695238	chr7:14561655-14561656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11767890	chr7:14561667-14561668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115551205	chr7:14561680-14561681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187418796	chr7:14561683-14561684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12699626	chr7:14561710-14561711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562729916	chr7:14561765-14561766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578212446	chr7:14561808-14561809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531689203	chr7:14561815-14561816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541958713	chr7:14561846-14561847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139291724	chr7:14561853-14561854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375127393	chr7:14561865-14561866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547600916	chr7:14561871-14561872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150013865	chr7:14561876-14561877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533074897	chr7:14561883-14561884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74462462	chr7:14561950-14561951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545130019	chr7:14561960-14561961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535382761	chr7:14561975-14561976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147715640	chr7:14561983-14561984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73057439	chr7:14561987-14561988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11771647	chr7:14562010-14562011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541937876	chr7:14562014-14562015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553941302	chr7:14562061-14562062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577506449	chr7:14562072-14562073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544584749	chr7:14562079-14562080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75025213	chr7:14562086-14562087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11767969	chr7:14562108-14562109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9691428	chr7:14562166-14562167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146903162	chr7:14562167-14562168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181468718	chr7:14562195-14562196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115957532	chr7:14562239-14562240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527765956	chr7:14562334-14562335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541278014	chr7:14562373-14562374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564266170	chr7:14562401-14562402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540537329	chr7:14562407-14562408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533109830	chr7:14562432-14562433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550342788	chr7:14562472-14562473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34844756	chr7:14562485-14562486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569905221	chr7:14562504-14562505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149009328	chr7:14562536-14562537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560702842	chr7:14562551-14562552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143003045	chr7:14562601-14562602	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14561600-14563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:14562800-14563200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:14584800-14585200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:14585200-14585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:14585800-14586400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:14595400-14601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:14596400-14597000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:14596400-14597200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:14596600-14597000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:14601400-14602800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr7:14601400-14603800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:14603200-14604200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr7:14603800-14624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:14604200-14624000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:14606200-14606600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:14606600-14609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links