Variant report

Variant	nsv887688
Chromosome Location	chr7:13445846-13492340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
2	chr7:13486434..13489093-chr7:13519344..13521855,2	K562	blood:
3	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
4	chr7:13456011..13457903-chr7:13461716..13464563,2	MCF-7	breast:
5	chr7:13434953..13437106-chr7:13448377..13450959,2	K562	blood:

Extended variants
information (count: 573 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:573 , 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	rs2723418	chr7:13445846-13445847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375494233	chr7:13445864-13445865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565209411	chr7:13445948-13445949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2723419	chr7:13445967-13445968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192663024	chr7:13445980-13445981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555498601	chr7:13446001-13446002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184651736	chr7:13446004-13446005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540656922	chr7:13446044-13446045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564077611	chr7:13446052-13446053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2568613	chr7:13446065-13446066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531821425	chr7:13446140-13446141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375708616	chr7:13446141-13446142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11761329	chr7:13446150-13446151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149455123	chr7:13446155-13446156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34152762	chr7:13446177-13446178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536095144	chr7:13446223-13446224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2723420	chr7:13446250-13446251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369115532	chr7:13446261-13446262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189050341	chr7:13446267-13446268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192950385	chr7:13446304-13446305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547589199	chr7:13446344-13446345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570795694	chr7:13446424-13446425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538946185	chr7:13446425-13446426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371503304	chr7:13446474-13446475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10277053	chr7:13446496-13446497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536035565	chr7:13446497-13446498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556033046	chr7:13446500-13446501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185150890	chr7:13446510-13446511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541094807	chr7:13446541-13446542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143877649	chr7:13446549-13446550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577523119	chr7:13446551-13446552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189628927	chr7:13446564-13446565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569219514	chr7:13446571-13446572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181109441	chr7:13446580-13446581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529175266	chr7:13446583-13446584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185488562	chr7:13446622-13446623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138696515	chr7:13446677-13446678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528295439	chr7:13446710-13446711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538015094	chr7:13446717-13446718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547821667	chr7:13446781-13446782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570898813	chr7:13446804-13446805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114952379	chr7:13446816-13446817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74964892	chr7:13446820-13446821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373036185	chr7:13446829-13446830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35331502	chr7:13446889-13446890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570348096	chr7:13446926-13446927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142763080	chr7:13446954-13446955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549435076	chr7:13446974-13446975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566219797	chr7:13446976-13446977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34290691	chr7:13447000-13447001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13445800-13447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13446600-13448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:13447400-13448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:13447600-13448000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:13447600-13448400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:13447800-13448400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:13447800-13448600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:13448400-13458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:13451600-13451800	Enhancers	Psoas Muscle	Psoas
10	chr7:13451800-13454200	Weak transcription	Psoas Muscle	Psoas
11	chr7:13453400-13454000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:13453400-13454200	Enhancers	Stomach Smooth Muscle	stomach
13	chr7:13453600-13454000	Enhancers	Fetal Heart	heart
14	chr7:13453600-13454800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:13454000-13454200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:13454000-13454200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:13454000-13454400	Enhancers	Fetal Brain Female	brain
18	chr7:13454000-13454400	Enhancers	NH-A	brain
19	chr7:13454000-13454800	Flanking Active TSS	Fetal Heart	heart
20	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr7:13454200-13454400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:13454200-13454600	Active TSS	Left Ventricle	heart
23	chr7:13454200-13454600	Flanking Active TSS	Psoas Muscle	Psoas
24	chr7:13454200-13454600	Active TSS	Right Atrium	heart
25	chr7:13454200-13454600	Active TSS	Right Ventricle	heart
26	chr7:13454200-13454600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr7:13454400-13454600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:13454400-13454800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:13454600-13454800	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:13454600-13455600	Weak transcription	Psoas Muscle	Psoas
31	chr7:13454800-13455000	Enhancers	Fetal Heart	heart
32	chr7:13454800-13455000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:13455800-13456000	Enhancers	Psoas Muscle	Psoas
34	chr7:13458000-13458600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr7:13467000-13468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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