Variant report

Variant	nsv872941
Chromosome Location	chr1:195770204-195820337
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
2	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:
3	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
4	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
5	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
6	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
7	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
8	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
9	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
10	chr1:195798467..195799379-chr17:58126930..58127634,2	MCF-7	breast:
11	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
12	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
13	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
14	chr1:195772551..195774478-chr1:195777510..195779769,2	MCF-7	breast:
15	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-3	chr1:195783910-195784002	NONHSAT008592
2	lnc-KCNT2-3	chr1:195779787-195779962	NONHSAT008592

No data

Extended variants
information (count: 1838 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1838 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12729459	chr1:195770204-195770205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544653233	chr1:195770280-195770281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559770110	chr1:195770290-195770291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180831958	chr1:195770294-195770295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187434348	chr1:195770297-195770298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561345520	chr1:195770307-195770308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531960022	chr1:195770324-195770325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550190269	chr1:195770427-195770428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142836359	chr1:195770434-195770435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532545906	chr1:195770468-195770469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547812093	chr1:195770475-195770476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568484890	chr1:195770490-195770491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566136303	chr1:195770494-195770495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12063116	chr1:195770495-195770496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535491905	chr1:195770535-195770536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548694302	chr1:195770554-195770555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150617778	chr1:195770560-195770561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191810623	chr1:195770589-195770590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12090024	chr1:195770590-195770591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182968546	chr1:195770626-195770627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10921918	chr1:195770627-195770628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553368397	chr1:195770630-195770631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571780172	chr1:195770660-195770661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542335274	chr1:195770739-195770740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561071849	chr1:195770753-195770754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576549355	chr1:195770848-195770849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139668360	chr1:195770857-195770858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565528476	chr1:195770922-195770923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532862083	chr1:195771016-195771017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200085570	chr1:195771017-195771018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559764619	chr1:195771082-195771083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369607909	chr1:195771083-195771084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548386164	chr1:195771101-195771102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570180677	chr1:195771117-195771118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531361034	chr1:195771133-195771134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549957236	chr1:195771158-195771159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571174010	chr1:195771172-195771173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373566122	chr1:195771208-195771209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553677811	chr1:195771241-195771242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565319450	chr1:195771248-195771249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536283910	chr1:195771265-195771266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185720225	chr1:195771293-195771294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576088691	chr1:195771336-195771337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543608930	chr1:195771343-195771344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557964403	chr1:195771363-195771364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577544740	chr1:195771368-195771369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541731624	chr1:195771418-195771419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560132216	chr1:195771419-195771420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9427617	chr1:195771429-195771430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542211146	chr1:195771431-195771432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195764400-195789400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:195774800-195775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:195775000-195775400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:195775200-195775400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:195789400-195790000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:195789600-195793400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:195790000-195790600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr1:195790600-195793800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:195793400-195794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:195793600-195794200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:195793800-195794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:195793800-195794400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:195793800-195794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:195793800-195794400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:195793800-195794600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:195794000-195794400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:195794200-195800400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:195794400-195796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:195794400-195797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:195794400-195797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:195794400-195797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:195794400-195797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:195794400-195797600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:195794600-195797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:195796800-195798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:195796800-195798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:195797200-195797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:195797400-195797800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:195797400-195797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:195797400-195797800	Enhancers	HMEC	breast
31	chr1:195797400-195798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:195797400-195798200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:195797400-195798200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:195797400-195798600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:195797600-195798200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:195797800-195798200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:195797800-195800400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:195798000-195800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:195798200-195800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:195798200-195800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:195798200-195800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:195798200-195800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:195798600-195800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:195800200-195800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:195800200-195800800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:195800400-195800800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:195800400-195801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:195800400-195801200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:195800400-195801200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:195800400-195801200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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