Variant report

Variant	nsv1014402
Chromosome Location	chr1:195792089-195877256
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
2	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
3	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
4	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
5	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
6	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
7	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
8	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
9	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
10	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
11	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
12	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
13	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
14	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
15	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
16	chr1:195803018..195804625-chr1:195806055..195808518,2	K562	blood:
17	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
18	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
19	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
20	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
21	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
22	chr1:195798467..195799379-chr17:58126930..58127634,2	MCF-7	breast:
23	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
24	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
25	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
26	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
27	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
28	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
29	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
30	chr1:195801949..195804625-chr1:195806180..195808826,3	K562	blood:
31	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
32	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
33	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
34	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
35	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
36	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
37	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
38	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
39	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
40	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
41	chr1:195797258..195800617-chr1:195801133..195805279,5	K562	blood:
42	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
43	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
44	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
45	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
46	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
47	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
48	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
49	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
50	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:

No data

Extended variants
information (count: 2480 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2480 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6683699	chr1:195792089-195792090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201737889	chr1:195792112-195792113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12065480	chr1:195792124-195792125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189770014	chr1:195792200-195792201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138732788	chr1:195792205-195792206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183595230	chr1:195792222-195792223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369778100	chr1:195792240-195792241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10218674	chr1:195792249-195792250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574613241	chr1:195792264-195792265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112728508	chr1:195792300-195792301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554449321	chr1:195792313-195792314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576223999	chr1:195792328-195792329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543351863	chr1:195792336-195792337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565190168	chr1:195792394-195792395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565746224	chr1:195792443-195792444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541045151	chr1:195792456-195792457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559462936	chr1:195792475-195792476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35815382	chr1:195792518-195792519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386369209	chr1:195792519-195792520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386369210	chr1:195792531-195792532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57213902	chr1:195792532-195792533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529793057	chr1:195792539-195792540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187846389	chr1:195792597-195792598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369621181	chr1:195792598-195792599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192182016	chr1:195792614-195792615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531136966	chr1:195792638-195792639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552553798	chr1:195792653-195792654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570823858	chr1:195792661-195792662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534670263	chr1:195792665-195792666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546566000	chr1:195792683-195792684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568148493	chr1:195792697-195792698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535564944	chr1:195792704-195792705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115134847	chr1:195792706-195792707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377197016	chr1:195792717-195792718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57446733	chr1:195792735-195792736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185087594	chr1:195792748-195792749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60001488	chr1:195792771-195792772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188062209	chr1:195792774-195792775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552989419	chr1:195792781-195792782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138746233	chr1:195792789-195792790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61137731	chr1:195792793-195792794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs61820577	chr1:195792835-195792836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530977834	chr1:195792838-195792839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57268177	chr1:195792866-195792867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146239869	chr1:195792883-195792884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57535547	chr1:195792884-195792885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74132954	chr1:195792928-195792929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568108241	chr1:195792980-195792981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192842535	chr1:195793065-195793066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56092586	chr1:195793166-195793167	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
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

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195789600-195793400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:195790600-195793800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:195793400-195794400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:195793600-195794200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:195793800-195794400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:195793800-195794400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:195793800-195794400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:195793800-195794400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:195793800-195794600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:195794000-195794400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:195794200-195800400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:195794400-195796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:195794400-195797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:195794400-195797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:195794400-195797400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:195794400-195797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:195794400-195797600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:195794600-195797800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:195796800-195798200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:195796800-195798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:195797200-195797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:195797400-195797800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:195797400-195797800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:195797400-195797800	Enhancers	HMEC	breast
25	chr1:195797400-195798000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:195797400-195798200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:195797400-195798200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:195797400-195798600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:195797600-195798200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:195797800-195798200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:195797800-195800400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:195798000-195800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:195798200-195800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:195798200-195800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:195798200-195800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:195798200-195800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:195798600-195800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:195800200-195800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:195800200-195800800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:195800400-195800800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:195800400-195801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:195800400-195801200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:195800400-195801200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:195800400-195801200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:195800400-195801200	Enhancers	K562	blood
46	chr1:195800600-195800800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr1:195800600-195801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:195801200-195801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:195801200-195804200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:195804200-195805200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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