Variant report

Variant	nsv873170
Chromosome Location	chr1:215367248-215440975
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:215409558..215413015-chr1:215413539..215417993,3	MCF-7	breast:
2	chr1:215398980..215400593-chr1:215403515..215406240,2	MCF-7	breast:
3	chr1:215425382..215427460-chr1:215429504..215431007,2	MCF-7	breast:
4	chr1:215361168..215363733-chr1:215415498..215417578,2	MCF-7	breast:
5	chr1:215409558..215413015-chr1:215413539..215417993,3	MCF-7	breast:
6	chr1:215293562..215295636-chr1:215380314..215382077,2	K562	blood:
7	chr1:215398980..215400593-chr1:215403515..215406240,2	MCF-7	breast:
8	chr1:215370070..215372970-chr1:215440375..215442931,2	MCF-7	breast:
9	chr1:215396676..215399240-chr3:64135650..64138383,2	MCF-7	breast:
10	chr1:215438804..215441774-chr1:215443283..215445065,2	MCF-7	breast:
11	chr1:215370070..215372970-chr1:215440375..215442931,2	MCF-7	breast:
12	chr1:215425382..215427460-chr1:215429504..215431007,2	MCF-7	breast:
13	chr1:215433758..215436228-chr1:215449645..215451805,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCNK2	hsa-miR-124-3p	chr1:215408961-215408968
2	KCNK2	hsa-miR-124-3p	chr1:215408947-215408968

Extended variants
information (count: 2284 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2284 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6700379	chr1:215367248-215367249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183854223	chr1:215367271-215367272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs66733224	chr1:215367347-215367348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200420743	chr1:215367351-215367352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201259188	chr1:215367357-215367358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201909343	chr1:215367358-215367359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557385053	chr1:215367389-215367390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574247334	chr1:215367400-215367401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367935321	chr1:215367402-215367403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555361214	chr1:215367434-215367435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77659515	chr1:215367437-215367438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201544582	chr1:215367458-215367459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6688065	chr1:215367565-215367566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146255082	chr1:215367619-215367620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564332397	chr1:215367621-215367622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532969022	chr1:215367656-215367657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142226524	chr1:215367670-215367671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563460141	chr1:215367754-215367755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529108319	chr1:215367762-215367763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548975101	chr1:215367772-215367773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565727582	chr1:215367782-215367783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373107198	chr1:215367796-215367797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551563207	chr1:215367839-215367840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17024396	chr1:215367907-215367908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562042735	chr1:215367933-215367934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529432802	chr1:215368000-215368001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557482973	chr1:215368009-215368010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567969209	chr1:215368051-215368052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536934197	chr1:215368106-215368107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555445402	chr1:215368114-215368115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140393079	chr1:215368144-215368145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534747722	chr1:215368170-215368171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557586161	chr1:215368171-215368172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577641352	chr1:215368237-215368238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543257957	chr1:215368244-215368245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149941939	chr1:215368303-215368304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371312018	chr1:215368307-215368308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573638555	chr1:215368312-215368313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374646942	chr1:215368319-215368320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565618538	chr1:215368336-215368337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80246222	chr1:215368442-215368443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1556907	chr1:215368514-215368515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368795291	chr1:215368539-215368540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530711448	chr1:215368555-215368556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186845428	chr1:215368640-215368641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530994708	chr1:215368654-215368655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202146353	chr1:215368706-215368707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200177622	chr1:215368707-215368708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397982890	chr1:215368717-215368718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202028293	chr1:215368718-215368719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215356000-215368400	Weak transcription	Fetal Brain Female	brain
2	chr1:215364000-215367400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:215365000-215367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:215366800-215370200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:215366800-215371200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:215367000-215369200	Weak transcription	NHDF-Ad	bronchial
7	chr1:215367000-215374400	Weak transcription	Osteobl	bone
8	chr1:215367400-215368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:215367400-215370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:215369200-215370200	Strong transcription	NHDF-Ad	bronchial
11	chr1:215370200-215370600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:215370200-215371200	Weak transcription	NHDF-Ad	bronchial
13	chr1:215370600-215370800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:215370600-215374200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:215370800-215371400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:215371200-215371600	Strong transcription	NHDF-Ad	bronchial
17	chr1:215371200-215372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:215371400-215371600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:215371400-215371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:215371400-215371600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:215371400-215374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:215371600-215372200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:215371600-215374200	Weak transcription	NHDF-Ad	bronchial
24	chr1:215371800-215373000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:215371800-215373000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:215372200-215375800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:215372800-215374000	Enhancers	Brain Germinal Matrix	brain
28	chr1:215372800-215375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:215373000-215373800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:215373000-215374600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:215373000-215375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:215373000-215375600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:215373200-215373400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:215373200-215373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:215373200-215374200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:215373200-215375000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:215373200-215375000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:215373200-215375200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:215373200-215375200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:215373200-215375200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:215373400-215375200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:215373600-215374600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:215373800-215375600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:215374200-215374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:215374200-215375000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:215374200-215375000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:215374200-215375000	Enhancers	NHDF-Ad	bronchial
48	chr1:215374400-215374800	Enhancers	Osteobl	bone
49	chr1:215374600-215375800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:215374600-215376400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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