Variant report

Variant	nsv548690
Chromosome Location	chr1:194496590-194606982
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	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
2	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
3	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
4	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
5	chr1:194519474..194521221-chr1:194527873..194530649,2	K562	blood:
6	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
7	chr1:194583954..194584474-chr4:116457976..116458496,2	MCF-7	breast:
8	chr1:194583954..194584474-chr4:146024840..146025360,2	MCF-7	breast:
9	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:
10	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
11	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
12	chr1:194583474..194584454-chr2:31059867..31060367,2	MCF-7	breast:
13	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
14	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
15	chr1:194583954..194584474-chr11:21332888..21333408,2	MCF-7	breast:
16	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
17	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
18	chr1:194583454..194584474-chr7:89057256..89058256,3	MCF-7	breast:
19	chr1:194519474..194521221-chr1:194527873..194530649,2	K562	blood:

No data

Extended variants
information (count: 583 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533973531	chr1:194502403-194502404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188178494	chr1:194502436-194502437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574083020	chr1:194502499-194502500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116163067	chr1:194502531-194502532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556732035	chr1:194502550-194502551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192774827	chr1:194502620-194502621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73066732	chr1:194502630-194502631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539393640	chr1:194502720-194502721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558033000	chr1:194502747-194502748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139547784	chr1:194502752-194502753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542728029	chr1:194502796-194502797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183335783	chr1:194502818-194502819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12132400	chr1:194502857-194502858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529003304	chr1:194502861-194502862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199565014	chr1:194502873-194502874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187514113	chr1:194502881-194502882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191447524	chr1:194502924-194502925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535032840	chr1:194502945-194502946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533007053	chr1:194503013-194503014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184762101	chr1:194503017-194503018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149277038	chr1:194503033-194503034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189625493	chr1:194503071-194503072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553064295	chr1:194503074-194503075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192155839	chr1:194503087-194503088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575013914	chr1:194503108-194503109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567517765	chr1:194503151-194503152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74478162	chr1:194503176-194503177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4393136	chr1:194503180-194503181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146202379	chr1:194503241-194503242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12135804	chr1:194503260-194503261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369623400	chr1:194503310-194503311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575913746	chr1:194503365-194503366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75717111	chr1:194503373-194503374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542601577	chr1:194503408-194503409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184656156	chr1:194503454-194503455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572776973	chr1:194503460-194503461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542920468	chr1:194503489-194503490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57861551	chr1:194503498-194503499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139182611	chr1:194503581-194503582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73066735	chr1:194503597-194503598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562283651	chr1:194503604-194503605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115826280	chr1:194503607-194503608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144003126	chr1:194503612-194503613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559888317	chr1:194503618-194503619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376232538	chr1:194503671-194503672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527597469	chr1:194503685-194503686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145938536	chr1:194503731-194503732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367685802	chr1:194503755-194503756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116638028	chr1:194503795-194503796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537898201	chr1:194503796-194503797	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
small cell lung cancer	20016488	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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194502400-194503400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:194503000-194503400	Enhancers	A549	lung
3	chr1:194503000-194504800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:194503000-194505000	Enhancers	HMEC	breast
5	chr1:194503200-194504600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:194503200-194504800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:194503200-194504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:194503200-194505200	Enhancers	NHEK	skin
9	chr1:194503400-194503800	Enhancers	Placenta	Placenta
10	chr1:194503600-194504600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:194503600-194504600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:194503600-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:194503800-194504000	Enhancers	Adipose Nuclei	Adipose
14	chr1:194503800-194504200	Flanking Active TSS	Placenta	Placenta
15	chr1:194503800-194504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:194504000-194504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:194504000-194504800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:194504000-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:194504200-194504400	Active TSS	Placenta	Placenta
20	chr1:194504200-194504800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:194504200-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:194504200-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:194504400-194504600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:194504400-194504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:194504400-194504600	Flanking Active TSS	Placenta	Placenta
26	chr1:194504400-194504800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:194504400-194504800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:194504400-194504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:194504400-194505000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:194504600-194504800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:194504600-194504800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:194504600-194505000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:194504600-194508600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:194504800-194506400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:194505000-194507400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:194506200-194506600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:194506400-194507800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:194506600-194507600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:194506600-194507800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:194506600-194507800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:194506600-194507800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:194507000-194507400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:194507400-194507800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:194517200-194518400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:194533200-194533600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:194544800-194546200	Enhancers	Dnd41	blood
47	chr1:194552800-194553400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:194553400-194553600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
49	chr1:194567400-194567600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:194569400-194570000	Enhancers	Pancreatic Islets	Pancreatic Islet

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