Variant report

Variant	nsv873149
Chromosome Location	chr1:210749312-210793972
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210757426..210758481-chr1:211307046..211308192,11	K562	blood:
2	chr1:210770711..210771663-chr1:211306582..211307099,2	MCF-7	breast:
3	chr1:210545089..210547776-chr1:210752110..210754652,2	MCF-7	breast:
4	chr1:210757852..210758385-chr1:211308379..211308928,2	K562	blood:
5	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:
6	chr1:210545005..210547704-chr1:210772140..210773700,2	MCF-7	breast:
7	chr1:210757518..210759006-chr1:211307144..211308415,6	MCF-7	breast:
8	chr1:210757380..210759177-chr1:211306876..211309058,23	MCF-7	breast:
9	chr1:210757458..210758223-chr1:211123026..211123527,2	MCF-7	breast:
10	chr1:210739072..210739725-chr1:210757502..210758390,2	K562	blood:
11	chr1:210774618..210775333-chr2:171669099..171669650,2	MCF-7	breast:
12	chr1:210547126..210548698-chr1:210757721..210760261,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERTAD4-2	chr1:210785659-210785730	NONHSAT009269
2	lnc-SERTAD4-2	chr1:210785661-210785730	l_178_chr1:210785660-210796066_testes

No data

Variant related genes	Relation type
ENSG00000143473	chromatin interactions
ENSG00000234233	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1934 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12567982	chr1:210749312-210749313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369343227	chr1:210749330-210749331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538330740	chr1:210749335-210749336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186070443	chr1:210749357-210749358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61830061	chr1:210749392-210749393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543862432	chr1:210749448-210749449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75351989	chr1:210749503-210749504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139645405	chr1:210749566-210749567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142718231	chr1:210749594-210749595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560824541	chr1:210749603-210749604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528006916	chr1:210749655-210749656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199722939	chr1:210749673-210749674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375743066	chr1:210749680-210749681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115679493	chr1:210749720-210749721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531942404	chr1:210749728-210749729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550269142	chr1:210749768-210749769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568581773	chr1:210749781-210749782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529286336	chr1:210749782-210749783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181135554	chr1:210749787-210749788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566755569	chr1:210749798-210749799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558258807	chr1:210749809-210749810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533881124	chr1:210749820-210749821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558822068	chr1:210749822-210749823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534316951	chr1:210749841-210749842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370025595	chr1:210749849-210749850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185327127	chr1:210749866-210749867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12140141	chr1:210749872-210749873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574228311	chr1:210749873-210749874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190194361	chr1:210749874-210749875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565536602	chr1:210749881-210749882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572690676	chr1:210749904-210749905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534916571	chr1:210749937-210749938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546142311	chr1:210749946-210749947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151009006	chr1:210749951-210749952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182726001	chr1:210749975-210749976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544060833	chr1:210749982-210749983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551102142	chr1:210750017-210750018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188414342	chr1:210750021-210750022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529413396	chr1:210750041-210750042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547761111	chr1:210750050-210750051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12217125	chr1:210750063-210750064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs192253274	chr1:210750111-210750112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552026944	chr1:210750177-210750178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115178975	chr1:210750195-210750196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371335586	chr1:210750206-210750207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549593836	chr1:210750210-210750211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11588653	chr1:210750216-210750217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535238411	chr1:210750219-210750220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140744058	chr1:210750242-210750243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571915891	chr1:210750275-210750276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210739400-210753000	Weak transcription	HSMMtube	muscle
2	chr1:210752200-210761200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210753000-210753600	Genic enhancers	HSMMtube	muscle
4	chr1:210753600-210754800	Weak transcription	HSMMtube	muscle
5	chr1:210754600-210754800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:210754600-210755400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:210754600-210755600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:210754600-210756400	Enhancers	Fetal Heart	heart
9	chr1:210754600-210756800	Enhancers	Fetal Thymus	thymus
10	chr1:210754600-210757600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:210754800-210756800	Enhancers	Thymus	Thymus
12	chr1:210754800-210758600	Enhancers	HSMMtube	muscle
13	chr1:210755200-210757000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:210755400-210756200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:210755400-210756200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:210755400-210756800	Enhancers	Primary T cells from cord blood	blood
17	chr1:210755600-210756000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:210755600-210756200	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:210755600-210756200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:210756000-210756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:210756000-210756200	Enhancers	Left Ventricle	heart
22	chr1:210756000-210758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:210756200-210758200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:210756200-210761000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:210756200-210771800	Weak transcription	Left Ventricle	heart
26	chr1:210756400-210760000	Weak transcription	Fetal Heart	heart
27	chr1:210756800-210757400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:210756800-210757800	Weak transcription	Thymus	Thymus
29	chr1:210757000-210757200	Enhancers	HSMM	muscle
30	chr1:210757200-210761200	Weak transcription	HSMM	muscle
31	chr1:210757400-210757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:210757800-210758000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:210757800-210758200	Enhancers	Lung	lung
34	chr1:210757800-210758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:210757800-210758400	Enhancers	Fetal Brain Male	brain
36	chr1:210757800-210758600	Enhancers	A549	lung
37	chr1:210758000-210758200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:210758000-210758200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:210758000-210758200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:210758000-210758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:210758000-210758200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:210758000-210758200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:210758000-210758200	Enhancers	Brain Germinal Matrix	brain
44	chr1:210758000-210758200	Enhancers	Fetal Lung	lung
45	chr1:210758000-210758200	Enhancers	Fetal Muscle Leg	muscle
46	chr1:210758000-210758200	Enhancers	Fetal Thymus	thymus
47	chr1:210758000-210758200	Enhancers	Gastric	stomach
48	chr1:210758000-210758200	Enhancers	Thymus	Thymus
49	chr1:210758000-210758200	Enhancers	Osteobl	bone
50	chr1:210758000-210758400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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