Variant report

Variant	nsv548734
Chromosome Location	chr1:195859022-195874856
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
2	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
3	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
4	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
5	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
6	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
7	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
8	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
9	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
10	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
11	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
12	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
13	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
14	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
15	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
16	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
17	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
18	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
19	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:

No data

Extended variants
information (count: 478 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577310253	chr1:195862844-195862845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10494737	chr1:195862859-195862860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559873024	chr1:195862893-195862894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575203115	chr1:195862970-195862971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191167224	chr1:195863003-195863004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545913239	chr1:195863010-195863011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574805678	chr1:195863027-195863028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80089766	chr1:195863106-195863107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560874386	chr1:195863133-195863134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531543646	chr1:195863135-195863136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143200617	chr1:195863141-195863142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148272242	chr1:195863149-195863150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531959068	chr1:195863210-195863211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547023271	chr1:195863219-195863220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141288554	chr1:195863232-195863233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535938071	chr1:195863252-195863253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12066668	chr1:195863337-195863338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570106988	chr1:195863361-195863362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537680110	chr1:195863363-195863364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540929222	chr1:195863369-195863370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559275929	chr1:195863397-195863398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577648326	chr1:195863414-195863415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10801487	chr1:195863415-195863416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145465964	chr1:195863510-195863511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548197511	chr1:195863516-195863517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574780018	chr1:195863519-195863520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377491360	chr1:195863522-195863523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541918162	chr1:195863528-195863529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370567683	chr1:195863543-195863544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183298763	chr1:195863565-195863566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1451913	chr1:195863634-195863635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114504203	chr1:195863650-195863651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs137977571	chr1:195863661-195863662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142481705	chr1:195863674-195863675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145964183	chr1:195863713-195863714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529700302	chr1:195863722-195863723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139476882	chr1:195863732-195863733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536133314	chr1:195863742-195863743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35927743	chr1:195863770-195863771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532933833	chr1:195863780-195863781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112965895	chr1:195863828-195863829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569763391	chr1:195863832-195863833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187672177	chr1:195863835-195863836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371929013	chr1:195863850-195863851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552772443	chr1:195863888-195863889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571080648	chr1:195863913-195863914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535290192	chr1:195863937-195863938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553639473	chr1:195863939-195863940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192878690	chr1:195863985-195863986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535890321	chr1:195864038-195864039	Enhancers	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195862800-195864200	Enhancers	K562	blood
2	chr1:195863000-195863200	Enhancers	Aorta	Aorta
3	chr1:195863200-195864000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:195863200-195864200	Enhancers	Fetal Heart	heart
5	chr1:195863200-195864200	Enhancers	HMEC	breast
6	chr1:195863200-195864400	Enhancers	Left Ventricle	heart
7	chr1:195863400-195864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:195863400-195864400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:195863600-195864000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:195863600-195864000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:195863600-195864200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:195863600-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:195863800-195864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195863800-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:195864200-195866400	Weak transcription	K562	blood
16	chr1:195864200-195868800	Weak transcription	HMEC	breast
17	chr1:195864400-195868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:195864400-195869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:195866400-195866600	Enhancers	K562	blood
20	chr1:195866600-195867000	Weak transcription	K562	blood
21	chr1:195866800-195869400	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:195867000-195867600	Enhancers	K562	blood
23	chr1:195867000-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:195867200-195867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:195867200-195867800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:195867400-195868200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:195867400-195868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:195867600-195867800	Flanking Active TSS	K562	blood
29	chr1:195867800-195868800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:195867800-195868800	Active TSS	K562	blood
31	chr1:195868200-195870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:195868600-195869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:195868800-195869200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:195868800-195869400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:195868800-195869400	Enhancers	HMEC	breast
36	chr1:195868800-195869400	Enhancers	NHDF-Ad	bronchial
37	chr1:195868800-195869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:195868800-195870800	Enhancers	K562	blood
39	chr1:195869000-195869400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:195869800-195870400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:195870400-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:195870800-195871600	Weak transcription	K562	blood
43	chr1:195871000-195872000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:195871000-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:195871600-195871800	Active TSS	K562	blood
46	chr1:195871800-195872600	Flanking Active TSS	K562	blood
47	chr1:195872000-195872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:195872400-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:195872600-195873200	Enhancers	K562	blood

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