Variant report

Variant	esv3391584
Chromosome Location	chr7:13049188-13050986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540764644	chr7:13049206-13049207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73678957	chr7:13049279-13049280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577808881	chr7:13049298-13049299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371334524	chr7:13049309-13049310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368412941	chr7:13049310-13049311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149433263	chr7:13049330-13049331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199618106	chr7:13049350-13049351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553682688	chr7:13049352-13049353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556776114	chr7:13049354-13049355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559240756	chr7:13049356-13049357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77358096	chr7:13049370-13049371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183339656	chr7:13049407-13049408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188698995	chr7:13049441-13049442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148192102	chr7:13049465-13049466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570952829	chr7:13049517-13049518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112344010	chr7:13049518-13049519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386710472	chr7:13049521-13049522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111424353	chr7:13049522-13049523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112692392	chr7:13049523-13049524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541047486	chr7:13049533-13049534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576938304	chr7:13049578-13049579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564369388	chr7:13049583-13049584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536175630	chr7:13049596-13049597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555627276	chr7:13049606-13049607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533083059	chr7:13049607-13049608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543553459	chr7:13049610-13049611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534315853	chr7:13049611-13049612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563380889	chr7:13049625-13049626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376791027	chr7:13049651-13049652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192813065	chr7:13049656-13049657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375240163	chr7:13049673-13049674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143601757	chr7:13049679-13049680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184976007	chr7:13049681-13049682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573730551	chr7:13049685-13049686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188110491	chr7:13049711-13049712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559676211	chr7:13049726-13049727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10279759	chr7:13049749-13049750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541387559	chr7:13049753-13049754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192869111	chr7:13049757-13049758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183791490	chr7:13049763-13049764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549987270	chr7:13049769-13049770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188106071	chr7:13049779-13049780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57747832	chr7:13049813-13049814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369789070	chr7:13049817-13049818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78710826	chr7:13049887-13049888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192523246	chr7:13049905-13049906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6961047	chr7:13049906-13049907	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534327144	chr7:13049910-13049911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115594630	chr7:13049922-13049923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571277555	chr7:13049968-13049969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13048000-13049200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13048400-13049200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13049000-13049200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:13049200-13057000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:13049800-13050400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links