Variant report

Variant	nsv887607
Chromosome Location	chr7:11518918-11531679
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	chr7:11531532..11533937-chr7:11555026..11557667,2	K562	blood:

Extended variants
information (count: 588 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:588 , 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	rs4720989	chr7:11518918-11518919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528680746	chr7:11518928-11518929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145165622	chr7:11518970-11518971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs886355	chr7:11518972-11518973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184144029	chr7:11518996-11518997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188048324	chr7:11518998-11518999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578142448	chr7:11519006-11519007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543726108	chr7:11519044-11519045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149132282	chr7:11519079-11519080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560239305	chr7:11519110-11519111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs886356	chr7:11519116-11519117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76192686	chr7:11519154-11519155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375676689	chr7:11519161-11519162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386710307	chr7:11519260-11519261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146255221	chr7:11519267-11519268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61469997	chr7:11519270-11519271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78569601	chr7:11519346-11519347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147847731	chr7:11519353-11519354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10257754	chr7:11519365-11519366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533187296	chr7:11519390-11519391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146973109	chr7:11519450-11519451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570012954	chr7:11519470-11519471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140695388	chr7:11519489-11519490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376704041	chr7:11519495-11519496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368434448	chr7:11519496-11519497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67525952	chr7:11519497-11519498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370353033	chr7:11519498-11519499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372769233	chr7:11519499-11519500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376394149	chr7:11519505-11519506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370849082	chr7:11519509-11519510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373114681	chr7:11519514-11519515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528887669	chr7:11519532-11519533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12536556	chr7:11519605-11519606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565685464	chr7:11519664-11519665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573734779	chr7:11519666-11519667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148011595	chr7:11519674-11519675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557852259	chr7:11519703-11519704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571730217	chr7:11519708-11519709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10486132	chr7:11519719-11519720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557226229	chr7:11519751-11519752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538155580	chr7:11519763-11519764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574034645	chr7:11519782-11519783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542921739	chr7:11519839-11519840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116147353	chr7:11519880-11519881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573211459	chr7:11519889-11519890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552094507	chr7:11519944-11519945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115280117	chr7:11519959-11519960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565406978	chr7:11519964-11519965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115327825	chr7:11519965-11519966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114112208	chr7:11519972-11519973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:11498600-11519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:11513800-11519000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:11514000-11520600	Weak transcription	Fetal Kidney	kidney
5	chr7:11514200-11522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
7	chr7:11514800-11523000	Weak transcription	Placenta	Placenta
8	chr7:11515200-11521400	Weak transcription	Pancreas	Pancrea
9	chr7:11518000-11519000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:11518800-11519800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:11519000-11520400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:11519800-11520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:11519800-11520200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:11519800-11520200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:11520200-11523600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:11520400-11525000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:11521400-11521600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:11521400-11521600	ZNF genes & repeats	Pancreas	Pancrea
19	chr7:11521600-11538600	Weak transcription	Pancreas	Pancrea
20	chr7:11522200-11522600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:11523600-11524000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:11523600-11524000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:11525000-11526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:11525200-11525600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:11525200-11525600	Enhancers	Brain Anterior Caudate	brain
26	chr7:11526200-11526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:11527600-11528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:11527600-11530000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:11527600-11530200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:11528000-11528200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:11528000-11530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:11528000-11530200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:11528000-11530400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:11528200-11528600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:11528200-11530200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:11528400-11528800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:11528400-11529200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:11528400-11529400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:11528400-11529400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:11528400-11530000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:11528600-11528800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:11528600-11529400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:11528600-11529400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:11528800-11529200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:11528800-11529400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:11528800-11531400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:11529000-11529400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:11529200-11529400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:11529200-11529400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:11529400-11529800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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