Variant report

Variant	nsv2673
Chromosome Location	chr2:35561110-35638100
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
2	chr2:35596481..35597984-chr2:35603805..35606386,2	MCF-7	breast:
3	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
4	chr2:35555522..35558497-chr2:35583892..35586551,2	MCF-7	breast:
5	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
6	chr2:35595251..35596880-chr2:35615132..35617116,2	MCF-7	breast:
7	chr2:35393157..35394354-chr2:35634679..35636139,8	MCF-7	breast:
8	chr2:35392713..35393658-chr2:35567942..35568821,2	MCF-7	breast:
9	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
10	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
11	chr2:35631189..35631709-chr5:42912392..42912906,2	MCF-7	breast:
12	chr2:35393099..35394069-chr2:35567966..35568823,5	MCF-7	breast:
13	chr2:35586832..35589112-chr2:35590477..35593289,2	K562	blood:
14	chr2:35594983..35597246-chr2:35598118..35600266,2	MCF-7	breast:
15	chr2:35522554..35524084-chr2:35594104..35596851,2	MCF-7	breast:
16	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:
17	chr2:35593503..35596340-chr2:35622993..35624579,2	MCF-7	breast:
18	chr2:35419204..35420824-chr2:35561387..35563219,2	MCF-7	breast:
19	chr2:35635532..35636321-chr7:108607888..108608786,2	MCF-7	breast:

No data

Extended variants
information (count: 725 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551215566	chr2:35562057-35562058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564786125	chr2:35562068-35562069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370548294	chr2:35562079-35562080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527476312	chr2:35562080-35562081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374224787	chr2:35562086-35562087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547944794	chr2:35562094-35562095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146181548	chr2:35562098-35562099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536320272	chr2:35562114-35562115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185771117	chr2:35562136-35562137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139096861	chr2:35562137-35562138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78701657	chr2:35562139-35562140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558484172	chr2:35562140-35562141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571910072	chr2:35562173-35562174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77268036	chr2:35562183-35562184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370848600	chr2:35562197-35562198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79321106	chr2:35562853-35562854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571948757	chr2:35562884-35562885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536607279	chr2:35562890-35562891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557245477	chr2:35562922-35562923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147833777	chr2:35562957-35562958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543983153	chr2:35562973-35562974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575900040	chr2:35563002-35563003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554087299	chr2:35563047-35563048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567801724	chr2:35563052-35563053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536393741	chr2:35563071-35563072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556230136	chr2:35563092-35563093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55799621	chr2:35563120-35563121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72784549	chr2:35563130-35563131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76677312	chr2:35563194-35563195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558503325	chr2:35563202-35563203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572268740	chr2:35563224-35563225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564548077	chr2:35563231-35563232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182765224	chr2:35563242-35563243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572877662	chr2:35563266-35563267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4377315	chr2:35563313-35563314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529893510	chr2:35563316-35563317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34273086	chr2:35563324-35563325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187446223	chr2:35563334-35563335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563356026	chr2:35563343-35563344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140809723	chr2:35563347-35563348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76584194	chr2:35563363-35563364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77578026	chr2:35563393-35563394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527981406	chr2:35563406-35563407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548067440	chr2:35563424-35563425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80170816	chr2:35563479-35563480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144770785	chr2:35563490-35563491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12471339	chr2:35563498-35563499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75476759	chr2:35563515-35563516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79912743	chr2:35563546-35563547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147864885	chr2:35563563-35563564	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35562000-35562200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:35562800-35564400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:35563800-35564200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:35563800-35564800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:35564000-35564200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:35564200-35566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:35566600-35568200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:35567000-35567200	ZNF genes & repeats	Gastric	stomach
9	chr2:35580200-35580400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:35580200-35580600	ZNF genes & repeats	Esophagus	oesophagus
11	chr2:35580200-35581600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:35580400-35581400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:35580400-35581800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:35581400-35581800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:35581600-35581800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:35593600-35594800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:35594000-35594400	Active TSS	Brain Angular Gyrus	brain
18	chr2:35594200-35594400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:35597600-35598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:35597600-35598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:35601400-35601800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:35616800-35617200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:35616800-35617200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:35629400-35630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:35629600-35630000	Enhancers	Fetal Lung	lung
26	chr2:35630800-35636200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:35632200-35632400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:35633200-35633800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:35633200-35634000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:35633400-35634000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:35633400-35634200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:35633400-35634200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:35633600-35635600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:35634200-35635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:35634600-35635600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:35635400-35635600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:35636200-35636400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:35636400-35637200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:35637200-35637400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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