Variant report

Variant	nsv874108
Chromosome Location	chr2:52351522-52463610
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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

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

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

No data

Extended variants
information (count: 1419 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4356688	chr2:52351522-52351523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541503718	chr2:52351523-52351524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4356689	chr2:52351542-52351543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189607478	chr2:52351560-52351561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532245804	chr2:52351605-52351606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552042400	chr2:52351608-52351609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142449066	chr2:52351625-52351626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181496843	chr2:52351646-52351647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568390950	chr2:52351667-52351668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575452489	chr2:52351680-52351681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115059429	chr2:52351701-52351702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79292534	chr2:52351718-52351719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577226792	chr2:52351724-52351725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186176745	chr2:52351749-52351750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561947587	chr2:52351796-52351797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11679763	chr2:52351815-52351816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573373266	chr2:52351840-52351841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145958070	chr2:52351864-52351865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562018647	chr2:52351930-52351931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190985704	chr2:52351932-52351933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542976652	chr2:52351972-52351973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563302149	chr2:52351973-52351974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368781420	chr2:52352038-52352039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74638697	chr2:52352057-52352058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562817198	chr2:52352064-52352065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373752593	chr2:52352074-52352075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71406644	chr2:52352091-52352092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139889119	chr2:52352092-52352093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145335682	chr2:52352102-52352103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13019281	chr2:52352115-52352116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559217985	chr2:52352124-52352125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13412365	chr2:52352125-52352126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183305968	chr2:52352178-52352179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568236325	chr2:52352222-52352223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371671059	chr2:52352262-52352263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548425942	chr2:52352265-52352266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568326813	chr2:52352280-52352281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11681070	chr2:52352281-52352282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550653597	chr2:52352330-52352331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138675758	chr2:52352408-52352409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186510679	chr2:52352425-52352426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376482445	chr2:52352426-52352427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553414792	chr2:52352438-52352439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191006506	chr2:52352440-52352441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11681131	chr2:52352442-52352443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs13424500	chr2:52352465-52352466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555553294	chr2:52352477-52352478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113194799	chr2:52352485-52352486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140780246	chr2:52352509-52352510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539541211	chr2:52352523-52352524	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52345000-52355000	Weak transcription	Osteobl	bone
2	chr2:52350600-52354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:52352800-52353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:52353200-52354200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:52353600-52355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:52354200-52355000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:52354200-52355600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:52354200-52355600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:52354400-52355600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:52354800-52355200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:52354800-52355400	Enhancers	NHLF	lung
12	chr2:52354800-52355600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:52355000-52355800	Enhancers	Osteobl	bone
14	chr2:52362200-52363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:52366600-52367200	Enhancers	Fetal Brain Female	brain
16	chr2:52366600-52367600	Enhancers	Fetal Brain Male	brain
17	chr2:52367600-52368000	Weak transcription	Fetal Brain Male	brain
18	chr2:52367600-52368600	Enhancers	Fetal Heart	heart
19	chr2:52367800-52368400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:52368000-52368400	Enhancers	Fetal Brain Male	brain
21	chr2:52368400-52372000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:52370400-52371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:52370400-52372400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:52370400-52372400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:52372000-52372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:52373000-52373400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:52385200-52385800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:52385800-52389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:52389200-52389600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:52389200-52389600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:52389800-52390000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:52408000-52408400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:52412800-52413000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:52419200-52419400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:52419200-52421200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:52419200-52421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:52419400-52420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:52420400-52421600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:52427600-52427800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:52434800-52435000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:52435000-52435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:52435200-52435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:52435400-52435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:52435600-52435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:52436800-52437200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:52436800-52438600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:52437400-52438000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:52442000-52443800	Enhancers	Fetal Heart	heart
50	chr2:52443800-52448600	Weak transcription	Fetal Heart	heart

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