Variant report

Variant	esv3477647
Chromosome Location	chr7:26139027-26142425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
2	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
3	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
4	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
5	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
6	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371165903	chr7:26139078-26139079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36117897	chr7:26139087-26139088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529816208	chr7:26139132-26139133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573945627	chr7:26139185-26139186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569641744	chr7:26139204-26139205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10261736	chr7:26139214-26139215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10261939	chr7:26139217-26139218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560679660	chr7:26139275-26139276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542907231	chr7:26139285-26139286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199610215	chr7:26139318-26139319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559619659	chr7:26139331-26139332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551796463	chr7:26139413-26139414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572871547	chr7:26139418-26139419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545014766	chr7:26139436-26139437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534716407	chr7:26139460-26139461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554324711	chr7:26139463-26139464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201276809	chr7:26139483-26139484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374723205	chr7:26139484-26139485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567862782	chr7:26139489-26139490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536812460	chr7:26139526-26139527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556781490	chr7:26139619-26139620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186580197	chr7:26139674-26139675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191822801	chr7:26139724-26139725	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147671644	chr7:26139725-26139726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183950240	chr7:26139726-26139727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531011239	chr7:26139767-26139768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140922195	chr7:26139832-26139833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536901091	chr7:26139834-26139835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530186144	chr7:26139842-26139843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543246609	chr7:26139918-26139919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550842501	chr7:26139959-26139960	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532319790	chr7:26140036-26140037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150220802	chr7:26140058-26140059	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565676915	chr7:26140095-26140096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111302097	chr7:26140115-26140116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190168957	chr7:26140133-26140134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369066452	chr7:26140309-26140310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7455110	chr7:26140313-26140314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200858333	chr7:26140335-26140336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546870384	chr7:26140371-26140372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs537136479	chr7:26140408-26140409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376230638	chr7:26140418-26140419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34310882	chr7:26140454-26140455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75675254	chr7:26140455-26140456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570219249	chr7:26140457-26140458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76151215	chr7:26140458-26140459	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs193014180	chr7:26140509-26140510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572427580	chr7:26140536-26140537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144098880	chr7:26140567-26140568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369550322	chr7:26140600-26140601	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	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
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
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
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:26135600-26139200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr7:26136200-26139200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:26136200-26140600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:26136200-26141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:26136400-26140400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:26136400-26142400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:26136800-26139600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:26137000-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:26137600-26140000	Weak transcription	Primary B cells from cord blood	blood
12	chr7:26137600-26140600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:26137600-26140800	Weak transcription	HepG2	liver
14	chr7:26137800-26139400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:26137800-26140400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:26137800-26141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:26137800-26141000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:26137800-26141000	Enhancers	Primary T cells from cord blood	blood
19	chr7:26137800-26141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:26138000-26140000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:26138000-26140400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:26138000-26140400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:26138000-26140600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:26138000-26140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:26138000-26141000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:26138000-26141000	Weak transcription	Thymus	Thymus
27	chr7:26138200-26139800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:26138200-26140000	Weak transcription	GM12878-XiMat	blood
29	chr7:26138200-26140600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:26138200-26140600	Weak transcription	Fetal Thymus	thymus
31	chr7:26138200-26141400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:26138800-26139200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:26138800-26140000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:26138800-26143600	Enhancers	Placenta	Placenta
35	chr7:26139000-26139200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:26139000-26140400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:26139000-26141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:26139200-26140200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:26139200-26141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:26139200-26141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:26139400-26141000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:26139600-26142400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:26139800-26140600	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:26140000-26140600	Enhancers	Primary B cells from cord blood	blood
45	chr7:26140000-26140600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:26140000-26140600	Enhancers	GM12878-XiMat	blood
47	chr7:26140000-26140800	Enhancers	HUVEC	blood vessel
48	chr7:26140000-26141000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:26140000-26141200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:26140000-26142400	Enhancers	HUES64 Cell Line	embryonic stem cell

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