Variant report

Variant	nsv1007203
Chromosome Location	chr1:195672857-195902360
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:104)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:195735286..195738996-chr1:195739915..195743244,3	K562	blood:
2	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
3	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
4	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
5	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
6	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
7	chr1:195750720..195752669-chr1:195758254..195760737,2	MCF-7	breast:
8	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
9	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
10	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
11	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
12	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
13	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
14	chr1:195743372..195746056-chr1:195755378..195757167,2	K562	blood:
15	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
16	chr1:195735286..195738996-chr1:195739915..195743244,3	K562	blood:
17	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
18	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
19	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
20	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:
21	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:
22	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
23	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
24	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
25	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
26	chr1:195728899..195731213-chr1:195731741..195733671,2	K562	blood:
27	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
28	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
29	chr1:195728301..195731398-chr1:195733712..195736941,3	MCF-7	breast:
30	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
31	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
32	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
33	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
34	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
35	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
36	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
37	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
38	chr1:195729478..195731927-chr1:195733670..195735429,2	K562	blood:
39	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
40	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
41	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:
42	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
43	chr1:195798467..195799379-chr17:58126930..58127634,2	MCF-7	breast:
44	chr1:195720981..195722711-chr1:195730556..195732740,2	K562	blood:
45	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
46	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
47	chr1:195762140..195764635-chr1:195768082..195769673,2	K562	blood:
48	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
49	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
50	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-2	chr1:195727481-195728588	NONHSAT008590
2	lnc-KCNT2-2	chr1:195730397-195730538	NONHSAT008590
3	lnc-KCNT2-2	chr1:195732379-195732530	NONHSAT008590
4	lnc-KCNT2-3	chr1:195783910-195784002	NONHSAT008592
5	lnc-KCNT2-3	chr1:195779787-195779962	NONHSAT008592

No data

Extended variants
information (count: 6382 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6382 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11808673	chr1:195672857-195672858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540376907	chr1:195672869-195672870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542392222	chr1:195672888-195672889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141721960	chr1:195672905-195672906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369322366	chr1:195672906-195672907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575865757	chr1:195672920-195672921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562074293	chr1:195672990-195672991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185173189	chr1:195673014-195673015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116833667	chr1:195673035-195673036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73056343	chr1:195673044-195673045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150540966	chr1:195673076-195673077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190119408	chr1:195673171-195673172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72734140	chr1:195673187-195673188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139507660	chr1:195673207-195673208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548339359	chr1:195673208-195673209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569756337	chr1:195673218-195673219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530787915	chr1:195673246-195673247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149674095	chr1:195673248-195673249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58833757	chr1:195673262-195673263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534579201	chr1:195673263-195673264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147770931	chr1:195673319-195673320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16838827	chr1:195673333-195673334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578253865	chr1:195673390-195673391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535218716	chr1:195673494-195673495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557482876	chr1:195673501-195673502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575758095	chr1:195673505-195673506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539683216	chr1:195673508-195673509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181685359	chr1:195673614-195673615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573227000	chr1:195673615-195673616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12073430	chr1:195673632-195673633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185005485	chr1:195673645-195673646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188543174	chr1:195673652-195673653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140236077	chr1:195673666-195673667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544389646	chr1:195673693-195673694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563039677	chr1:195673701-195673702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530724240	chr1:195673741-195673742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552432263	chr1:195673780-195673781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181004475	chr1:195673803-195673804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184924556	chr1:195673807-195673808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190904755	chr1:195673825-195673826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145669522	chr1:195673830-195673831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17626633	chr1:195673838-195673839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550394121	chr1:195673862-195673863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182276877	chr1:195673920-195673921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568657280	chr1:195673936-195673937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539621589	chr1:195673938-195673939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527345273	chr1:195674016-195674017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186812652	chr1:195674043-195674044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12074591	chr1:195674114-195674115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555693885	chr1:195674122-195674123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Neuroblastoma	20406844	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195671200-195680200	Weak transcription	Esophagus	oesophagus
2	chr1:195675200-195675600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:195675600-195676000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:195676000-195676200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:195676200-195678200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:195677400-195678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:195678200-195678600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:195678200-195678600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:195678200-195678800	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:195678200-195679600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:195678400-195679400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:195678400-195679400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:195678800-195683000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:195679200-195679400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:195679400-195683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:195679400-195683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:195679600-195682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:195679800-195680200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:195680200-195680400	ZNF genes & repeats	Esophagus	oesophagus
20	chr1:195680400-195680800	Weak transcription	Esophagus	oesophagus
21	chr1:195682000-195686800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:195682800-195684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:195683000-195684600	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:195683000-195684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:195683000-195685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:195683400-195684000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:195683400-195684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:195683600-195684000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:195683600-195684200	Enhancers	A549	lung
30	chr1:195683600-195684600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:195683600-195684800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:195683600-195684800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:195683600-195684800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:195683800-195684600	Enhancers	NHDF-Ad	bronchial
35	chr1:195683800-195684800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:195684000-195684600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:195684000-195685000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:195684000-195685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:195684200-195684600	Weak transcription	A549	lung
40	chr1:195684600-195684800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:195684600-195684800	Enhancers	A549	lung
42	chr1:195684600-195686200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:195684600-195686200	Weak transcription	NHDF-Ad	bronchial
44	chr1:195684800-195686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:195684800-195686400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:195684800-195687200	Weak transcription	A549	lung
47	chr1:195684800-195688400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:195685000-195686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:195686200-195686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:195686200-195686800	Enhancers	NHDF-Ad	bronchial

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