Variant report

Variant	nsv967453
Chromosome Location	chr7:11593345-11604917
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	chr7:11467068..11467774-chr7:11597036..11597764,2	MCF-7	breast:

Extended variants
information (count: 566 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192016490	chr7:11593371-11593372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376303206	chr7:11593382-11593383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185322252	chr7:11593420-11593421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147063196	chr7:11593432-11593433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138358903	chr7:11593433-11593434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527609400	chr7:11593467-11593468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547346625	chr7:11593471-11593472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550943397	chr7:11593473-11593474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34	chr7:11593493-11593494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532749856	chr7:11593526-11593527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7811211	chr7:11593539-11593540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114380055	chr7:11593547-11593548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535528685	chr7:11593551-11593552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368102260	chr7:11593555-11593556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370201737	chr7:11593586-11593587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550747822	chr7:11593587-11593588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566250115	chr7:11593616-11593617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546606318	chr7:11593626-11593627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535344659	chr7:11593666-11593667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73056403	chr7:11593667-11593668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143852377	chr7:11593698-11593699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543500752	chr7:11593722-11593723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113121598	chr7:11593730-11593731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs33	chr7:11593734-11593735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542688386	chr7:11593737-11593738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561565443	chr7:11593762-11593763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7792687	chr7:11593797-11593798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs32	chr7:11593806-11593807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147238584	chr7:11593812-11593813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187798667	chr7:11593827-11593828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549837232	chr7:11593837-11593838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563253475	chr7:11593838-11593839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529020322	chr7:11593873-11593874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138702104	chr7:11593875-11593876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10235604	chr7:11593882-11593883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534860973	chr7:11593894-11593895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7792827	chr7:11593911-11593912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116315607	chr7:11593942-11593943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113291369	chr7:11593946-11593947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10235721	chr7:11593963-11593964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375802615	chr7:11593995-11593996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372659118	chr7:11594005-11594006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556960568	chr7:11594010-11594011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10279074	chr7:11594015-11594016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548401339	chr7:11594055-11594056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149334413	chr7:11594057-11594058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34682129	chr7:11594060-11594061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62434467	chr7:11594080-11594081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564291584	chr7:11594093-11594094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577888638	chr7:11594112-11594113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
2	chr7:11582800-11595000	Weak transcription	Fetal Kidney	kidney
3	chr7:11582800-11598600	Weak transcription	Fetal Lung	lung
4	chr7:11596800-11597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:11597000-11597400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:11597000-11597400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:11597000-11597400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:11597000-11597400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:11597000-11597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:11597000-11597800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:11597200-11597600	Enhancers	Liver	Liver
12	chr7:11597200-11597800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:11597200-11597800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:11597200-11598800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:11598600-11598800	ZNF genes & repeats	Fetal Lung	lung
16	chr7:11598800-11600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:11600200-11600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:11602800-11606800	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