Variant report

Variant	nsv470451
Chromosome Location	chr2:35520174-35634511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35392713..35393658-chr2:35567942..35568821,2	MCF-7	breast:
2	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
3	chr2:35524345..35526725-chr2:35531053..35532688,2	MCF-7	breast:
4	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
5	chr2:35524345..35526725-chr2:35531053..35532688,2	MCF-7	breast:
6	chr2:35419204..35420824-chr2:35561387..35563219,2	MCF-7	breast:
7	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
8	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
9	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
10	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
11	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
12	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
13	chr2:35523124..35525670-chr2:35529266..35531418,2	MCF-7	breast:
14	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
15	chr2:35393099..35394069-chr2:35567966..35568823,5	MCF-7	breast:
16	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
17	chr2:35534253..35536153-chr2:35536523..35538995,2	MCF-7	breast:
18	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
19	chr2:35438569..35439074-chr2:35522272..35523184,2	MCF-7	breast:
20	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
21	chr2:35534253..35536153-chr2:35536523..35538995,2	MCF-7	breast:
22	chr2:35523124..35525670-chr2:35529266..35531418,2	MCF-7	breast:
23	chr2:35515834..35519983-chr2:35520328..35526264,11	MCF-7	breast:
24	chr2:35631189..35631709-chr5:42912392..42912906,2	MCF-7	breast:
25	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
26	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:

No data

Extended variants
information (count: 1409 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1409 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514776	chr2:35520174-35520175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545576194	chr2:35520179-35520180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559060219	chr2:35520182-35520183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528167915	chr2:35520213-35520214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74894975	chr2:35520231-35520232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568995022	chr2:35520242-35520243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78272870	chr2:35520245-35520246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76262285	chr2:35520251-35520252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550420810	chr2:35520256-35520257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192141810	chr2:35520308-35520309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150420570	chr2:35520309-35520310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138232262	chr2:35520332-35520333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566181354	chr2:35520336-35520337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79372872	chr2:35520343-35520344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557128548	chr2:35520404-35520405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183964865	chr2:35520407-35520408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377687849	chr2:35520443-35520444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149173160	chr2:35520485-35520486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187206512	chr2:35520500-35520501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372489258	chr2:35520533-35520534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139077778	chr2:35520544-35520545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143310613	chr2:35520587-35520588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112328756	chr2:35520617-35520618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201575479	chr2:35520664-35520665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568184710	chr2:35520684-35520685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528180444	chr2:35520691-35520692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541874116	chr2:35520707-35520708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192132415	chr2:35520709-35520710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561551746	chr2:35520713-35520714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530554840	chr2:35520723-35520724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144837267	chr2:35520768-35520769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370606617	chr2:35520769-35520770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550289803	chr2:35520834-35520835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564019223	chr2:35520849-35520850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183025234	chr2:35520890-35520891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529307064	chr2:35520892-35520893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186927047	chr2:35520912-35520913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566243977	chr2:35520929-35520930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11695273	chr2:35520937-35520938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192773165	chr2:35520940-35520941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540616403	chr2:35520995-35520996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201906155	chr2:35521001-35521002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374722352	chr2:35521009-35521010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200368531	chr2:35521021-35521022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372152034	chr2:35521046-35521047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562382924	chr2:35521050-35521051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141952541	chr2:35521098-35521099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184311575	chr2:35521124-35521125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150528343	chr2:35521151-35521152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544212757	chr2:35521212-35521213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35520000-35525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35522800-35524000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:35523200-35524000	Enhancers	HUVEC	blood vessel
4	chr2:35523200-35524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:35523400-35523800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:35523400-35524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:35523600-35523800	Enhancers	Fetal Brain Male	brain
8	chr2:35523600-35524000	Enhancers	Fetal Lung	lung
9	chr2:35523800-35526600	Weak transcription	Fetal Brain Male	brain
10	chr2:35525000-35526600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35526600-35526800	Enhancers	Fetal Brain Male	brain
12	chr2:35526600-35527400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35526800-35527600	Weak transcription	Fetal Brain Male	brain
14	chr2:35527400-35527600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35527600-35528600	Enhancers	Fetal Brain Male	brain
16	chr2:35527600-35530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35530600-35530800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35538400-35539200	Enhancers	Brain Germinal Matrix	brain
19	chr2:35550600-35553200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35553200-35553400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35553400-35553600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:35553600-35554800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:35554200-35555800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:35554800-35555000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:35555000-35555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:35555200-35555600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:35555600-35556200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:35556200-35557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:35562000-35562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:35562800-35564400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:35563800-35564200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:35563800-35564800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:35564000-35564200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:35564200-35566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:35566600-35568200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:35567000-35567200	ZNF genes & repeats	Gastric	stomach
37	chr2:35580200-35580400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:35580200-35580600	ZNF genes & repeats	Esophagus	oesophagus
39	chr2:35580200-35581600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:35580400-35581400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:35580400-35581800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:35581400-35581800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:35581600-35581800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:35593600-35594800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:35594000-35594400	Active TSS	Brain Angular Gyrus	brain
46	chr2:35594200-35594400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:35597600-35598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:35597600-35598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:35601400-35601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:35616800-35617200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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