Variant report

Variant	nsv873837
Chromosome Location	chr2:35304102-35364087
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	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
2	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
3	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
4	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
5	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:
6	chr2:35359597..35360193-chr6:115017299..115018148,2	MCF-7	breast:
7	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
8	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
9	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
10	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:

No data

Extended variants
information (count: 478 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117298514	chr2:35305054-35305055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550964691	chr2:35305094-35305095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367880491	chr2:35305101-35305102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10202198	chr2:35305102-35305103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533081599	chr2:35305103-35305104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10178895	chr2:35305111-35305112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566363966	chr2:35305124-35305125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114105498	chr2:35305134-35305135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13397641	chr2:35305135-35305136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568941887	chr2:35305188-35305189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537396528	chr2:35305249-35305250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151313515	chr2:35305298-35305299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577430370	chr2:35305338-35305339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72868285	chr2:35305346-35305347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572090719	chr2:35305351-35305352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10179188	chr2:35305372-35305373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573521831	chr2:35305377-35305378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186431306	chr2:35305392-35305393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13397975	chr2:35305420-35305421	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs527952710	chr2:35305453-35305454	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531309793	chr2:35305454-35305455	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575699026	chr2:35305485-35305486	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs59305276	chr2:35305493-35305494	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190443119	chr2:35305555-35305556	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181634006	chr2:35305568-35305569	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546518973	chr2:35305572-35305573	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185358065	chr2:35305578-35305579	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567664134	chr2:35305622-35305623	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529014535	chr2:35305651-35305652	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79995274	chr2:35305668-35305669	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114584585	chr2:35305674-35305675	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4670430	chr2:35305685-35305686	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4670431	chr2:35305749-35305750	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs539276093	chr2:35305794-35305795	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540131964	chr2:35305810-35305811	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4670432	chr2:35305832-35305833	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573063510	chr2:35305845-35305846	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573590483	chr2:35305853-35305854	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535629384	chr2:35305885-35305886	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs17016138	chr2:35305903-35305904	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370426457	chr2:35305953-35305954	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182615698	chr2:35305958-35305959	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs114280851	chr2:35305960-35305961	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542608351	chr2:35305980-35305981	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577663253	chr2:35306031-35306032	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12468552	chr2:35306062-35306063	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4670433	chr2:35306067-35306068	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs529171607	chr2:35306068-35306069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187582750	chr2:35306102-35306103	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562735270	chr2:35306183-35306184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35305000-35307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:35305200-35305600	Enhancers	NHDF-Ad	bronchial
3	chr2:35305200-35305800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:35305200-35306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:35305400-35305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:35305400-35306000	Active TSS	A549	lung
7	chr2:35305600-35306200	Enhancers	NH-A	brain
8	chr2:35305800-35306200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:35305800-35306400	Enhancers	Fetal Lung	lung
10	chr2:35306000-35306200	Flanking Active TSS	A549	lung
11	chr2:35306000-35306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35306200-35307200	Weak transcription	A549	lung
13	chr2:35306200-35307400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:35306600-35307000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:35307200-35307400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:35307200-35307600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:35307200-35307600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:35307200-35307600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:35307200-35307600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:35307200-35307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:35307200-35307600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:35307200-35307800	Enhancers	A549	lung
23	chr2:35307400-35307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:35307800-35309800	Weak transcription	A549	lung
25	chr2:35309800-35310200	Enhancers	A549	lung
26	chr2:35313400-35314000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:35314000-35314200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:35317200-35318000	Enhancers	A549	lung
29	chr2:35317200-35318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:35317800-35318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:35317800-35318400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:35338000-35338600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:35340000-35341600	Enhancers	Esophagus	oesophagus
34	chr2:35350200-35350600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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