Variant report

Variant	nsv1001840
Chromosome Location	chr2:35478302-35523704
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
2	chr2:35515834..35519983-chr2:35520328..35526264,11	MCF-7	breast:
3	chr2:35438569..35439074-chr2:35522272..35523184,2	MCF-7	breast:
4	chr2:35508463..35510186-chr2:35510352..35512886,2	K562	blood:
5	chr2:35494459..35497337-chr2:35509045..35511917,2	MCF-7	breast:
6	chr2:35508463..35510186-chr2:35510352..35512886,2	K562	blood:
7	chr2:35523124..35525670-chr2:35529266..35531418,2	MCF-7	breast:
8	chr2:35494459..35497337-chr2:35509045..35511917,2	MCF-7	breast:
9	chr2:35515834..35519983-chr2:35520328..35526264,11	MCF-7	breast:

No data

Extended variants
information (count: 331 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:331 , 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	rs186385012	chr2:35499019-35499020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377386665	chr2:35499064-35499065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545143182	chr2:35499089-35499090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145183220	chr2:35499093-35499094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550629198	chr2:35499138-35499139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569158012	chr2:35499139-35499140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188707339	chr2:35499161-35499162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180828304	chr2:35499175-35499176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566606178	chr2:35510237-35510238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532079435	chr2:35510305-35510306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116426026	chr2:35510318-35510319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555335670	chr2:35510422-35510423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575193230	chr2:35510423-35510424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577190094	chr2:35510464-35510465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192577227	chr2:35510465-35510466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116564382	chr2:35510479-35510480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183355025	chr2:35510528-35510529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560316915	chr2:35510553-35510554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138884262	chr2:35510599-35510600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187440379	chr2:35510608-35510609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562461953	chr2:35510627-35510628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530225976	chr2:35510642-35510643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11896952	chr2:35510682-35510683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551213221	chr2:35510700-35510701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571986131	chr2:35510754-35510755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191392887	chr2:35510764-35510765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533605345	chr2:35510782-35510783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546776302	chr2:35510793-35510794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566666959	chr2:35510818-35510819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201500623	chr2:35510831-35510832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183963330	chr2:35510923-35510924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548968954	chr2:35510940-35510941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568872514	chr2:35510965-35510966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12104627	chr2:35510979-35510980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189386916	chr2:35510983-35510984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17327447	chr2:35511035-35511036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139836450	chr2:35511065-35511066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534025900	chr2:35511120-35511121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559016965	chr2:35511170-35511171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192627260	chr2:35511209-35511210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6760367	chr2:35511212-35511213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573826829	chr2:35511214-35511215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542696085	chr2:35511223-35511224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142076923	chr2:35511240-35511241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575956789	chr2:35511296-35511297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544598724	chr2:35511305-35511306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564837234	chr2:35511317-35511318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369844653	chr2:35511325-35511326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17016409	chr2:35511366-35511367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150822324	chr2:35511368-35511369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35499000-35499200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:35510200-35511400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35517200-35518200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35517400-35517800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:35517800-35518000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:35517800-35518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:35517800-35518600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:35517800-35518600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:35517800-35518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:35518000-35518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:35518000-35518400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:35518000-35518800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:35518200-35518400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35518200-35518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:35518200-35519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:35518200-35519400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:35518200-35519800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:35518400-35520000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35519400-35520000	Enhancers	A549	lung
20	chr2:35520000-35525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35522800-35524000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:35523200-35524000	Enhancers	HUVEC	blood vessel
23	chr2:35523200-35524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:35523400-35523800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:35523400-35524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:35523600-35523800	Enhancers	Fetal Brain Male	brain
27	chr2:35523600-35524000	Enhancers	Fetal Lung	lung

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