Variant report

Variant	esv3505576
Chromosome Location	chr7:25338477-25343275
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	chr7:25331750..25334223-chr7:25338530..25341196,2	K562	blood:

Extended variants
information (count: 218 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529106436	chr7:25338477-25338478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115481164	chr7:25338479-25338480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569276208	chr7:25338481-25338482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145604559	chr7:25338504-25338505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543068135	chr7:25338507-25338508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9691472	chr7:25338512-25338513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148898019	chr7:25338538-25338539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568531012	chr7:25338543-25338544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537474819	chr7:25338557-25338558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557313788	chr7:25338568-25338569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577564840	chr7:25338575-25338576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534047708	chr7:25338580-25338581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560657883	chr7:25338589-25338590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553697421	chr7:25338600-25338601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111986983	chr7:25338628-25338629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143464603	chr7:25338632-25338633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541981303	chr7:25338634-25338635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369494268	chr7:25338646-25338647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150929464	chr7:25338652-25338653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544659006	chr7:25338686-25338687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377138389	chr7:25338714-25338715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9690814	chr7:25338718-25338719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533459061	chr7:25338723-25338724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142112676	chr7:25338724-25338725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145821537	chr7:25338740-25338741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539801001	chr7:25338811-25338812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549140698	chr7:25338839-25338840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192646301	chr7:25338852-25338853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537536298	chr7:25338870-25338871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9690828	chr7:25338904-25338905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372983762	chr7:25338906-25338907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139249802	chr7:25338916-25338917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533861796	chr7:25338950-25338951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554008761	chr7:25338951-25338952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141712274	chr7:25338959-25338960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536481440	chr7:25338966-25338967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184427292	chr7:25338973-25338974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575856490	chr7:25338984-25338985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544669410	chr7:25338986-25338987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564480794	chr7:25338995-25338996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188820773	chr7:25339002-25339003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181916035	chr7:25339026-25339027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370428689	chr7:25339050-25339051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150488617	chr7:25339059-25339060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573476943	chr7:25339069-25339070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138343483	chr7:25339079-25339080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372686667	chr7:25339114-25339115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561864492	chr7:25339120-25339121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562697560	chr7:25339147-25339148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186093068	chr7:25339180-25339181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Prostate cancer	16573809	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25336800-25342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:25336800-25342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:25336800-25342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:25336800-25342600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:25337000-25342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:25337400-25342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:25338400-25339600	Enhancers	Fetal Brain Male	brain
8	chr7:25339000-25339400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:25339200-25342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:25339400-25342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:25339600-25355000	Weak transcription	Fetal Brain Male	brain
12	chr7:25341400-25341600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:25341600-25342600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:25342200-25343600	Enhancers	Lung	lung
15	chr7:25342400-25342800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:25342400-25342800	Enhancers	Fetal Lung	lung
17	chr7:25342400-25343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:25342400-25343400	Enhancers	Fetal Heart	heart
19	chr7:25342400-25344200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:25342400-25344600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:25342400-25344600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:25342600-25343200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:25342600-25343200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:25342600-25343400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:25342600-25343600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:25342600-25343800	Enhancers	Colon Smooth Muscle	Colon
27	chr7:25342600-25344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:25342600-25344600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:25342600-25344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:25342600-25344800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:25342600-25344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:25342600-25345000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:25342800-25343000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:25342800-25343200	Enhancers	Brain Angular Gyrus	brain
35	chr7:25342800-25343200	Flanking Active TSS	Fetal Lung	lung
36	chr7:25342800-25343200	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:25342800-25343600	Enhancers	Right Ventricle	heart
38	chr7:25342800-25343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:25342800-25343800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:25342800-25343800	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:25342800-25344000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:25342800-25344400	Enhancers	Brain Germinal Matrix	brain
43	chr7:25342800-25344800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:25343000-25343200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:25343000-25343200	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:25343000-25343200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:25343000-25343200	Enhancers	Pancreas	Pancrea
48	chr7:25343000-25343200	Bivalent Enhancer	Small Intestine	intestine
49	chr7:25343000-25343400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:25343000-25343400	Enhancers	Liver	Liver

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