Variant report

Variant	esv1793209
Chromosome Location	chr7:39509401-39523947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38944229..38945857-chr7:39522828..39525500,2	K562	blood:
2	chr7:39515006..39518001-chr7:39520059..39523009,2	K562	blood:
3	chr7:39515006..39518001-chr7:39520059..39523009,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU6F2-1	chr7:39510687-39510841	NONHSAT120203

Extended variants
information (count: 269 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2024107	chr7:39509401-39509402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2024106	chr7:39509448-39509449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs566167233	chr7:39509470-39509471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2024105	chr7:39509515-39509516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs77401336	chr7:39509516-39509517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577882567	chr7:39509554-39509555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2024104	chr7:39509559-39509560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151260303	chr7:39509570-39509571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573612679	chr7:39509585-39509586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185780409	chr7:39509616-39509617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140451056	chr7:39509626-39509627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114504670	chr7:39509735-39509736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375455739	chr7:39509756-39509757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541245951	chr7:39509821-39509822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79367585	chr7:39509866-39509867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533348298	chr7:39509930-39509931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138490879	chr7:39509950-39509951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190382581	chr7:39510004-39510005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529344595	chr7:39510018-39510019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369742923	chr7:39510023-39510024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566181542	chr7:39510049-39510050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535093245	chr7:39510075-39510076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557684231	chr7:39510084-39510085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571456093	chr7:39510106-39510107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372590274	chr7:39510160-39510161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71560127	chr7:39510183-39510184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72139712	chr7:39510184-39510185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143494166	chr7:39510187-39510188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200496697	chr7:39510204-39510205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76431806	chr7:39510205-39510206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60821161	chr7:39510225-39510226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536826316	chr7:39510249-39510250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75643609	chr7:39510282-39510283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573845771	chr7:39510289-39510290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74644381	chr7:39510309-39510310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183731850	chr7:39510336-39510337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186194364	chr7:39510349-39510350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544735189	chr7:39510369-39510370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564807134	chr7:39510412-39510413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533621732	chr7:39510421-39510422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371032894	chr7:39510422-39510423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76773274	chr7:39510430-39510431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564016387	chr7:39510437-39510438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145128273	chr7:39510524-39510525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549422351	chr7:39510542-39510543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10242016	chr7:39510547-39510548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191438445	chr7:39510568-39510569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528479249	chr7:39510585-39510586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138574538	chr7:39510614-39510615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1558162	chr7:39510623-39510624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39505000-39512800	Weak transcription	Fetal Kidney	kidney
2	chr7:39508800-39511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39511200-39511400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39511400-39511800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39511800-39513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:39512200-39512400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:39512800-39513200	Enhancers	Fetal Kidney	kidney
8	chr7:39520200-39520600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:39520600-39520800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:39520600-39520800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:39520800-39522800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:39522600-39523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:39522800-39523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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