Variant report

Variant	nsv874025
Chromosome Location	chr2:49707932-49808562
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	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
2	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:
3	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
4	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:
5	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
6	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
7	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
8	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
9	chr2:49778479..49781327-chr2:49781867..49783960,2	K562	blood:
10	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:

No data

Extended variants
information (count: 364 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571907150	chr2:49716435-49716436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538969619	chr2:49716455-49716456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539374956	chr2:49716463-49716464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547331228	chr2:49716470-49716471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116786000	chr2:49716494-49716495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191114300	chr2:49716517-49716518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563463125	chr2:49716525-49716526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554684365	chr2:49716553-49716554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181507241	chr2:49716564-49716565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537238477	chr2:49716612-49716613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144520023	chr2:49716616-49716617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577026283	chr2:49716647-49716648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74603215	chr2:49716661-49716662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554105091	chr2:49716674-49716675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571725369	chr2:49716722-49716723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542645497	chr2:49716725-49716726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186076343	chr2:49716733-49716734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531740779	chr2:49716743-49716744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190804297	chr2:49716749-49716750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146663417	chr2:49716761-49716762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532809185	chr2:49716826-49716827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1405967	chr2:49716827-49716828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555830982	chr2:49716852-49716853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1405966	chr2:49716853-49716854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529699007	chr2:49716879-49716880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548249682	chr2:49716947-49716948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114395410	chr2:49716949-49716950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544809193	chr2:49716954-49716955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537151104	chr2:49716985-49716986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564707341	chr2:49716993-49716994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370445683	chr2:49717001-49717002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531611617	chr2:49717022-49717023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570572985	chr2:49717026-49717027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373469734	chr2:49717078-49717079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140261420	chr2:49717149-49717150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10174121	chr2:49717165-49717166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540975749	chr2:49717173-49717174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187703830	chr2:49717183-49717184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147376564	chr2:49717206-49717207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554549725	chr2:49717244-49717245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11327264	chr2:49717268-49717269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192385711	chr2:49717321-49717322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182445177	chr2:49717327-49717328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533516190	chr2:49717334-49717335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565449833	chr2:49717336-49717337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532576772	chr2:49717358-49717359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559382938	chr2:49717363-49717364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7609453	chr2:49717400-49717401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371673192	chr2:49728018-49728019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537149255	chr2:49728034-49728035	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49716400-49717400	Enhancers	Stomach Smooth Muscle	stomach
2	chr2:49728000-49728600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:49743600-49744200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:49789200-49790000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:49789800-49790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:49790200-49791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:49791400-49791800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:49793600-49794200	Enhancers	Fetal Brain Male	brain
9	chr2:49794200-49796600	Weak transcription	Fetal Brain Male	brain
10	chr2:49796600-49797000	Enhancers	Fetal Brain Male	brain

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