Variant report

Variant	nsv508685
Chromosome Location	chr1:196524030-196550980
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196541456..196544111-chr1:196547707..196549833,2	K562	blood:
2	chr1:196545478..196547560-chr1:196548804..196550690,2	K562	blood:
3	chr1:196525035..196527662-chr1:196528241..196531754,3	K562	blood:
4	chr1:196546060..196548308-chr1:196548538..196550690,3	K562	blood:
5	chr1:196525035..196527662-chr1:196528241..196531754,3	K562	blood:
6	chr1:196525702..196527977-chr1:196529545..196531665,2	K562	blood:
7	chr1:196513692..196516564-chr1:196524408..196527749,3	K562	blood:
8	chr1:196546060..196548308-chr1:196548538..196550690,3	K562	blood:
9	chr1:196541456..196544111-chr1:196547707..196549833,2	K562	blood:
10	chr1:196525702..196527977-chr1:196529545..196531665,2	K562	blood:
11	chr1:196545478..196547560-chr1:196548804..196550690,2	K562	blood:
12	chr1:196521771..196523647-chr1:196525103..196528091,2	K562	blood:

No data

Extended variants
information (count: 902 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:902 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560134556	chr1:196524067-196524068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537750388	chr1:196524074-196524075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527251224	chr1:196524108-196524109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552948234	chr1:196524123-196524124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571056704	chr1:196524168-196524169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199675736	chr1:196524172-196524173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552537913	chr1:196524173-196524174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12063992	chr1:196524267-196524268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553418966	chr1:196524325-196524326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549299350	chr1:196524329-196524330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142377781	chr1:196524378-196524379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374938427	chr1:196524379-196524380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535793483	chr1:196524396-196524397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191507795	chr1:196524420-196524421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183660732	chr1:196524435-196524436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151298919	chr1:196524436-196524437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140571606	chr1:196524465-196524466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116325701	chr1:196524482-196524483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540882801	chr1:196524498-196524499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569534256	chr1:196524516-196524517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559373060	chr1:196524534-196524535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150478355	chr1:196524653-196524654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79544565	chr1:196524703-196524704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571352764	chr1:196524704-196524705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563264575	chr1:196524732-196524733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570857758	chr1:196524790-196524791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187928208	chr1:196524823-196524824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552883277	chr1:196524828-196524829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571197982	chr1:196524842-196524843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371709598	chr1:196524843-196524844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192356791	chr1:196524847-196524848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546879828	chr1:196524861-196524862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568498549	chr1:196524929-196524930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147753116	chr1:196524979-196524980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557475042	chr1:196524992-196524993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575212555	chr1:196525000-196525001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539482931	chr1:196525127-196525128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558396153	chr1:196525157-196525158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185473888	chr1:196525220-196525221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541174370	chr1:196525243-196525244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141934942	chr1:196525257-196525258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574616526	chr1:196525283-196525284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs10922084	chr1:196525314-196525315	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189951113	chr1:196525326-196525327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557933340	chr1:196525352-196525353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73069738	chr1:196525377-196525378	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530506676	chr1:196525389-196525390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs545831962	chr1:196525400-196525401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117496961	chr1:196525420-196525421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111511070	chr1:196525471-196525472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196509800-196529600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196514600-196527600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:196516200-196526600	Weak transcription	Liver	Liver
4	chr1:196521000-196527000	Weak transcription	NHDF-Ad	bronchial
5	chr1:196522200-196525000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:196525000-196525400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr1:196525400-196527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:196525600-196526000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:196526000-196527600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:196526600-196527200	Enhancers	Liver	Liver
11	chr1:196526600-196527400	Enhancers	Hela-S3	cervix
12	chr1:196526800-196527000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:196526800-196527000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:196527000-196527200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:196527000-196527200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:196527000-196527200	Enhancers	Adipose Nuclei	Adipose
17	chr1:196527000-196527200	Flanking Active TSS	NHDF-Ad	bronchial
18	chr1:196527000-196527400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:196527000-196527400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:196527000-196527400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:196527000-196527400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:196527000-196527400	Enhancers	NHLF	lung
23	chr1:196527000-196527800	Active TSS	Right Atrium	heart
24	chr1:196527000-196527800	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:196527200-196527400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:196527200-196527400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:196527200-196527800	Active TSS	Adipose Nuclei	Adipose
28	chr1:196527200-196527800	Active TSS	Liver	Liver
29	chr1:196527200-196527800	Active TSS	HUVEC	blood vessel
30	chr1:196527200-196527800	Active TSS	NHDF-Ad	bronchial
31	chr1:196527200-196527800	Active TSS	Osteobl	bone
32	chr1:196527200-196528000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:196527200-196528000	Active TSS	A549	lung
34	chr1:196527200-196530000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:196527400-196527600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:196527400-196527800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:196527400-196527800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:196527400-196527800	Active TSS	Brain Hippocampus Middle	brain
39	chr1:196527400-196527800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:196527400-196527800	Active TSS	Ovary	ovary
41	chr1:196527400-196527800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:196527400-196527800	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:196527400-196527800	Flanking Active TSS	Hela-S3	cervix
44	chr1:196527400-196527800	Active TSS	HMEC	breast
45	chr1:196527400-196527800	Active TSS	HSMM	muscle
46	chr1:196527400-196527800	Active TSS	HSMMtube	muscle
47	chr1:196527400-196527800	Active TSS	K562	blood
48	chr1:196527400-196527800	Active TSS	NH-A	brain
49	chr1:196527400-196527800	Active TSS	NHLF	lung
50	chr1:196527400-196528000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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