Variant report

Variant	nsv933320
Chromosome Location	chr7:21840543-21882825
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	chr7:21877891..21879922-chr7:21953587..21955400,2	MCF-7	breast:

Extended variants
information (count: 1704 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1704 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7794141	chr7:21840560-21840561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151223097	chr7:21840570-21840571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572233861	chr7:21840592-21840593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140361814	chr7:21840613-21840614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117089053	chr7:21840633-21840634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565145600	chr7:21840638-21840639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375014643	chr7:21840647-21840648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572357343	chr7:21840714-21840715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374677158	chr7:21840734-21840735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367600609	chr7:21840737-21840738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116368970	chr7:21840745-21840746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376710623	chr7:21840779-21840780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369182142	chr7:21840783-21840784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372186391	chr7:21840784-21840785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377042231	chr7:21840818-21840819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369682703	chr7:21840819-21840820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373830685	chr7:21840839-21840840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373762766	chr7:21840846-21840847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192345130	chr7:21840853-21840854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368988134	chr7:21840856-21840857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372517354	chr7:21840861-21840862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540654085	chr7:21840875-21840876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76424325	chr7:21840900-21840901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115760995	chr7:21840947-21840948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72657390	chr7:21840948-21840949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560113359	chr7:21840968-21840969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72657391	chr7:21840977-21840978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527577522	chr7:21840979-21840980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115012115	chr7:21840980-21840981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567449168	chr7:21840981-21840982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143929746	chr7:21840997-21840998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556102828	chr7:21841006-21841007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79728877	chr7:21841048-21841049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538760257	chr7:21841059-21841060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558908695	chr7:21841063-21841064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572148673	chr7:21841070-21841071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76242802	chr7:21841080-21841081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554870753	chr7:21841121-21841122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34828593	chr7:21841128-21841129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574814521	chr7:21841179-21841180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146526650	chr7:21841198-21841199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79918564	chr7:21841218-21841219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371374367	chr7:21841224-21841225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531388607	chr7:21841230-21841231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544820441	chr7:21841269-21841270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138750192	chr7:21841271-21841272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17145488	chr7:21841304-21841305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149350601	chr7:21841317-21841318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567535219	chr7:21841331-21841332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188845976	chr7:21841346-21841347	Weak transcription	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21834400-21848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:21845000-21846600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:21845600-21846200	Enhancers	Fetal Kidney	kidney
4	chr7:21845600-21847000	Enhancers	Liver	Liver
5	chr7:21845800-21846200	Enhancers	Fetal Intestine Small	intestine
6	chr7:21846600-21847000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:21846800-21847200	Enhancers	Pancreas	Pancrea
8	chr7:21847000-21847600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:21858400-21859000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:21858400-21859600	Enhancers	Primary T cells from cord blood	blood
11	chr7:21859800-21860400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:21860400-21882200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:21866000-21866600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:21866400-21866600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:21866600-21868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:21867000-21868200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:21868000-21870600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:21868200-21869000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:21868200-21869000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:21868200-21869800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:21868400-21868800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:21868400-21868800	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:21868400-21869000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:21868400-21869000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:21868400-21869000	Enhancers	Thymus	Thymus
26	chr7:21868400-21869200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:21868400-21869200	Enhancers	Primary T cells from cord blood	blood
28	chr7:21868600-21868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:21868600-21869000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:21868600-21869000	Enhancers	Brain Anterior Caudate	brain
31	chr7:21868600-21869000	Enhancers	Fetal Thymus	thymus
32	chr7:21868600-21869600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:21868800-21869000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:21869800-21884400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:21881000-21881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:21881000-21881200	Enhancers	Pancreas	Pancrea
37	chr7:21881200-21881400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:21881200-21884400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:21882200-21882800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:21882400-21882600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links