Variant report

Variant	nsv873852
Chromosome Location	chr2:35818107-35926513
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
2	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
3	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:
4	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:
5	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
6	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
7	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
8	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
9	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
10	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:

No data

Extended variants
information (count: 3277 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3277 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574010552	chr2:35820008-35820009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141668433	chr2:35820032-35820033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554986775	chr2:35820052-35820053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2719118	chr2:35820095-35820096	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114707796	chr2:35820134-35820135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150540792	chr2:35820149-35820150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577528563	chr2:35820176-35820177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190225648	chr2:35820196-35820197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563152596	chr2:35820231-35820232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560960198	chr2:35820259-35820260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139443117	chr2:35820264-35820265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560943001	chr2:35820275-35820276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528147445	chr2:35820280-35820281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546694122	chr2:35820288-35820289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571046174	chr2:35820300-35820301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2719117	chr2:35820301-35820302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182811411	chr2:35820307-35820308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568800570	chr2:35820360-35820361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577707341	chr2:35820372-35820373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536555038	chr2:35820378-35820379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186640273	chr2:35820384-35820385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367838351	chr2:35820392-35820393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566878111	chr2:35820401-35820402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560200429	chr2:35820440-35820441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs116222763	chr2:35820469-35820470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559077611	chr2:35820477-35820478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192721455	chr2:35820480-35820481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544815707	chr2:35820481-35820482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556806166	chr2:35820499-35820500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185455074	chr2:35820514-35820515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs1371412	chr2:35820551-35820552	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189127850	chr2:35820559-35820560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs13024477	chr2:35820598-35820599	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528076187	chr2:35820601-35820602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539872439	chr2:35820607-35820608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74878255	chr2:35820610-35820611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531376565	chr2:35820632-35820633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113216923	chr2:35820637-35820638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532113669	chr2:35820640-35820641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs34720653	chr2:35820686-35820687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13025220	chr2:35820687-35820688	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529915261	chr2:35820722-35820723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1347939	chr2:35820735-35820736	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566687510	chr2:35820739-35820740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538498489	chr2:35820782-35820783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559038473	chr2:35820851-35820852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79756753	chr2:35820967-35820968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1371413	chr2:35820977-35820978	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556767247	chr2:35820980-35820981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78303126	chr2:35820990-35820991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35820000-35821600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35823200-35826000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35823400-35825200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:35823400-35825200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:35823400-35825200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:35825000-35825200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:35826800-35827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35827800-35833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35833400-35834200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35834200-35851800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35846200-35846400	Enhancers	Lung	lung
12	chr2:35846400-35846600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:35849200-35849600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:35849200-35849800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:35849200-35849800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:35849200-35849800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35876000-35876800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:35876200-35878600	Enhancers	Fetal Intestine Large	intestine
20	chr2:35876600-35877200	Enhancers	Fetal Intestine Small	intestine
21	chr2:35876800-35877200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:35876800-35877200	Enhancers	Small Intestine	intestine
23	chr2:35877000-35877600	Enhancers	Liver	Liver
24	chr2:35891000-35892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:35901800-35902000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:35902000-35902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:35902600-35903200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:35902800-35903600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:35907400-35907600	Enhancers	Pancreas	Pancrea
31	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
33	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
38	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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