Variant report

Variant	nsv535715
Chromosome Location	chr2:52346504-52471153
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:52357469..52360071-chr20:52739539..52742222,2	MCF-7	breast:
2	chr2:52367783..52370728-chr2:52370744..52372935,2	K562	blood:
3	chr2:52335533..52337278-chr2:52346386..52348387,2	K562	blood:
4	chr2:52444137..52446093-chr2:52447228..52448981,2	K562	blood:
5	chr2:52367783..52370728-chr2:52370744..52372935,2	K562	blood:
6	chr2:52444137..52446093-chr2:52447228..52448981,2	K562	blood:
7	chr2:52344101..52346354-chr2:52360940..52363061,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-10	chr2:52470105-52470654	NONHSAT070667
2	lnc-CHAC2-10	chr2:52453760-52453813	NONHSAT070667

No data

Extended variants
information (count: 1790 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1790 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184620173	chr2:52346509-52346510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116290834	chr2:52346545-52346546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543487734	chr2:52346550-52346551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188636694	chr2:52346553-52346554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569820530	chr2:52346585-52346586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149237957	chr2:52346599-52346600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193274744	chr2:52346600-52346601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566859704	chr2:52346622-52346623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535523198	chr2:52346654-52346655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61487485	chr2:52346681-52346682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61373479	chr2:52346688-52346689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2355807	chr2:52346715-52346716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs184981170	chr2:52346757-52346758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79471900	chr2:52346778-52346779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72796244	chr2:52346815-52346816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139866840	chr2:52346821-52346822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181663477	chr2:52346828-52346829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572786534	chr2:52346841-52346842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541495164	chr2:52346868-52346869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183973127	chr2:52346900-52346901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556610927	chr2:52346942-52346943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530643215	chr2:52346964-52346965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188643864	chr2:52346967-52346968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576321043	chr2:52346974-52346975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368238704	chr2:52346979-52346980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139739269	chr2:52346997-52346998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574882276	chr2:52347047-52347048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367688149	chr2:52347095-52347096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548049047	chr2:52347132-52347133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17042557	chr2:52347143-52347144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57038762	chr2:52347145-52347146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555547212	chr2:52347172-52347173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200819741	chr2:52347202-52347203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180797550	chr2:52347205-52347206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186182984	chr2:52347299-52347300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541182958	chr2:52347395-52347396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535820721	chr2:52347403-52347404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76889102	chr2:52347437-52347438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568976014	chr2:52347455-52347456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72618645	chr2:52347468-52347469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72618646	chr2:52347524-52347525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144504565	chr2:52347581-52347582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148425204	chr2:52347585-52347586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554429908	chr2:52347589-52347590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574277282	chr2:52347648-52347649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541817156	chr2:52347707-52347708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555414585	chr2:52347838-52347839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61633618	chr2:52347853-52347854	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369566657	chr2:52347900-52347901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142591266	chr2:52347915-52347916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52343200-52347200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:52345000-52355000	Weak transcription	Osteobl	bone
3	chr2:52347200-52350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:52347400-52347800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:52350600-52354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:52352800-52353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:52353200-52354200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:52353600-52355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:52354200-52355000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:52354200-52355600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:52354200-52355600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:52354400-52355600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:52354800-52355200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:52354800-52355400	Enhancers	NHLF	lung
15	chr2:52354800-52355600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:52355000-52355800	Enhancers	Osteobl	bone
17	chr2:52362200-52363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:52366600-52367200	Enhancers	Fetal Brain Female	brain
19	chr2:52366600-52367600	Enhancers	Fetal Brain Male	brain
20	chr2:52367600-52368000	Weak transcription	Fetal Brain Male	brain
21	chr2:52367600-52368600	Enhancers	Fetal Heart	heart
22	chr2:52367800-52368400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:52368000-52368400	Enhancers	Fetal Brain Male	brain
24	chr2:52368400-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:52370400-52371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:52370400-52372400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:52370400-52372400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:52372000-52372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:52373000-52373400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:52385200-52385800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:52385800-52389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:52389200-52389600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:52389200-52389600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:52389800-52390000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:52412800-52413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:52419200-52419400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:52419200-52421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:52419200-52421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:52419400-52420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:52420400-52421600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:52427600-52427800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:52434800-52435000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:52435000-52435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:52435200-52435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:52435400-52435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:52435600-52435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:52436800-52437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:52436800-52438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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