Variant report

Variant	nsv5656
Chromosome Location	chr7:21810397-21816672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21785213..21786764-chr7:21816105..21818005,2	K562	blood:
2	chr7:21816268..21818392-chr7:21823306..21824872,2	MCF-7	breast:
3	chr7:21813998..21816432-chr7:21818719..21821037,2	K562	blood:

Extended variants
information (count: 321 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557518256	chr7:21810431-21810432	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs144932257	chr7:21810473-21810474	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs563935438	chr7:21810483-21810484	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs138762601	chr7:21810516-21810517	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs543410735	chr7:21810577-21810578	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs563397435	chr7:21810593-21810594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs561677813	chr7:21810684-21810685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs569256468	chr7:21810791-21810792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552374731	chr7:21810801-21810802	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529595260	chr7:21810815-21810816	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559566831	chr7:21810831-21810832	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528329593	chr7:21810884-21810885	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191358418	chr7:21810892-21810893	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149314128	chr7:21810923-21810924	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536997960	chr7:21810943-21810944	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550960799	chr7:21811002-21811003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185653714	chr7:21811042-21811043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144556725	chr7:21811050-21811051	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549025607	chr7:21811059-21811060	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573082969	chr7:21811068-21811069	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539879246	chr7:21811091-21811092	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565675616	chr7:21811106-21811107	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148026933	chr7:21811109-21811110	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190714369	chr7:21811111-21811112	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574485766	chr7:21811124-21811125	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543018708	chr7:21811128-21811129	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556940514	chr7:21811152-21811153	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576945036	chr7:21811162-21811163	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546104928	chr7:21811186-21811187	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559726241	chr7:21811191-21811192	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534748858	chr7:21811197-21811198	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113619444	chr7:21811206-21811207	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141907350	chr7:21811260-21811261	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542009163	chr7:21811268-21811269	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571375487	chr7:21811278-21811279	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561999732	chr7:21811313-21811314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531049973	chr7:21811327-21811328	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181975130	chr7:21811346-21811347	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs147268717	chr7:21811379-21811380	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs116570966	chr7:21811421-21811422	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs187018897	chr7:21811422-21811423	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs140758836	chr7:21811460-21811461	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs5882824	chr7:21811470-21811471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs398003950	chr7:21811478-21811479	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs201259157	chr7:21811479-21811480	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs528930737	chr7:21811487-21811488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs535613983	chr7:21811535-21811536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs115980058	chr7:21811560-21811561	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs144620701	chr7:21811563-21811564	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs537131777	chr7:21811621-21811622	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21805400-21810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:21805600-21813800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:21805600-21813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:21805800-21810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:21806200-21812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:21807200-21811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:21808800-21811000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:21809400-21811000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:21809600-21810400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr7:21810000-21811200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:21810000-21812800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:21810000-21814000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:21810000-21814600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:21810200-21810600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:21810200-21811000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:21810200-21811200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:21810200-21813200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:21810400-21811000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:21810400-21812400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr7:21810400-21813000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:21810400-21813600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:21810600-21811400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:21810600-21813200	Enhancers	Colon Smooth Muscle	Colon
24	chr7:21810600-21813600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:21810800-21811000	Enhancers	Brain Germinal Matrix	brain
26	chr7:21810800-21811000	Enhancers	Brain Hippocampus Middle	brain
27	chr7:21810800-21811200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:21810800-21811200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:21810800-21811600	Enhancers	Brain Substantia Nigra	brain
30	chr7:21810800-21812000	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:21810800-21812200	Enhancers	Fetal Brain Female	brain
32	chr7:21810800-21812200	Enhancers	Fetal Heart	heart
33	chr7:21810800-21812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:21810800-21814000	Enhancers	Brain Angular Gyrus	brain
35	chr7:21811000-21811200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:21811000-21811200	Enhancers	Brain Anterior Caudate	brain
37	chr7:21811000-21811200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr7:21811000-21811200	Bivalent Enhancer	Fetal Kidney	kidney
39	chr7:21811000-21811400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr7:21811000-21811400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr7:21811000-21811600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:21811000-21811800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:21811000-21811800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:21811000-21813400	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:21811200-21811400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:21811200-21811400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:21811200-21811400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr7:21811200-21811600	Enhancers	Brain Hippocampus Middle	brain
49	chr7:21811200-21812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:21811200-21812600	Enhancers	Fetal Stomach	stomach

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