Variant report

Variant	nsv1002344
Chromosome Location	chr2:50326207-50518933
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:
2	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
3	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
4	chr2:50475641..50477316-chr2:50477684..50480524,2	K562	blood:
5	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:
6	chr2:50491641..50493832-chr2:50495172..50497236,2	MCF-7	breast:
7	chr2:50393318..50395919-chr2:50456799..50459520,2	K562	blood:
8	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:
9	chr2:50491641..50493832-chr2:50495172..50497236,2	MCF-7	breast:
10	chr2:49173436..49174023-chr2:50371199..50372057,2	MCF-7	breast:
11	chr2:50475641..50477316-chr2:50477684..50480524,2	K562	blood:
12	chr17:57913850..57916261-chr2:50331209..50333765,2	MCF-7	breast:
13	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
14	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
15	chr2:50393318..50395919-chr2:50456799..50459520,2	K562	blood:
16	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:
17	chr2:50343694..50346494-chr2:50347691..50350682,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 5125 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:5125 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560083504	chr2:50326221-50326222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527508794	chr2:50326234-50326235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540312296	chr2:50326235-50326236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186256627	chr2:50326241-50326242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143974169	chr2:50326291-50326292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190727606	chr2:50326304-50326305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575918771	chr2:50326321-50326322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550701977	chr2:50326329-50326330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547413341	chr2:50326344-50326345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372008393	chr2:50326357-50326358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569493550	chr2:50326422-50326423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533448626	chr2:50326451-50326452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552080215	chr2:50326457-50326458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566936611	chr2:50326460-50326461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183195298	chr2:50326462-50326463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62132528	chr2:50326471-50326472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527726077	chr2:50326483-50326484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199571565	chr2:50326502-50326503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374409075	chr2:50326503-50326504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397759156	chr2:50326511-50326512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79214764	chr2:50326512-50326513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567373628	chr2:50326539-50326540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541425461	chr2:50326572-50326573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537803334	chr2:50326585-50326586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555879914	chr2:50326587-50326588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577616967	chr2:50326597-50326598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75106717	chr2:50326605-50326606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561319589	chr2:50326651-50326652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554067881	chr2:50326705-50326706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199967071	chr2:50326717-50326718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571873287	chr2:50326725-50326726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12995106	chr2:50326742-50326743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186760480	chr2:50326786-50326787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561798468	chr2:50326792-50326793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559608801	chr2:50326796-50326797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530239147	chr2:50326810-50326811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192672674	chr2:50326819-50326820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183079115	chr2:50326836-50326837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139856502	chr2:50326954-50326955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533399443	chr2:50327024-50327025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551754606	chr2:50327027-50327028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115536207	chr2:50327042-50327043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188154717	chr2:50327125-50327126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192909627	chr2:50327133-50327134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2218978	chr2:50327134-50327135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570394544	chr2:50327135-50327136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367667266	chr2:50327141-50327142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367849944	chr2:50327150-50327151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537939405	chr2:50327184-50327185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73932930	chr2:50327186-50327187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50319200-50329800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50328800-50329000	Enhancers	Fetal Brain Female	brain
3	chr2:50329200-50330400	Enhancers	Fetal Brain Male	brain
4	chr2:50329800-50330000	Enhancers	Fetal Brain Female	brain
5	chr2:50329800-50331000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:50330400-50345600	Weak transcription	Fetal Brain Male	brain
7	chr2:50331600-50331800	Enhancers	Fetal Brain Female	brain
8	chr2:50335800-50336000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:50336000-50336200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:50336000-50338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:50336200-50338200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:50336600-50336800	Enhancers	Fetal Heart	heart
13	chr2:50336800-50337000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:50336800-50337800	Weak transcription	Fetal Heart	heart
15	chr2:50337000-50337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:50337000-50337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:50337200-50337400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:50337200-50337400	Enhancers	Brain Angular Gyrus	brain
19	chr2:50337400-50337600	Enhancers	Left Ventricle	heart
20	chr2:50337400-50338400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:50337400-50349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:50337600-50338200	Weak transcription	Left Ventricle	heart
23	chr2:50337800-50339000	Enhancers	Fetal Heart	heart
24	chr2:50337800-50339400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:50338200-50338400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:50338200-50338800	Enhancers	Left Ventricle	heart
27	chr2:50338400-50338800	Enhancers	Brain Angular Gyrus	brain
28	chr2:50338400-50339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:50338400-50343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:50339200-50342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:50339400-50343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:50340200-50340400	Enhancers	Fetal Intestine Large	intestine
33	chr2:50340400-50342600	Weak transcription	Fetal Intestine Large	intestine
34	chr2:50342600-50342800	Enhancers	Fetal Intestine Large	intestine
35	chr2:50342600-50343000	Enhancers	Small Intestine	intestine
36	chr2:50342600-50346000	Enhancers	Fetal Intestine Small	intestine
37	chr2:50342800-50343600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:50342800-50345800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:50343000-50343400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:50343000-50343400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:50343000-50343400	Weak transcription	Small Intestine	intestine
42	chr2:50343200-50343600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:50343200-50346000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:50343200-50346800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:50343200-50347200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:50343400-50343600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:50343400-50343600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:50343400-50343600	Enhancers	Fetal Kidney	kidney
49	chr2:50343400-50343800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:50343400-50344000	Enhancers	Stomach Mucosa	stomach

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