Variant report

Variant	nsv1009697
Chromosome Location	chr1:197804294-197825037
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197817283..197820451-chr1:197820588..197822788,3	K562	blood:
2	chr1:197819464..197821220-chr1:197827112..197828619,2	K562	blood:
3	chr1:197809186..197812182-chr1:197819659..197821945,2	K562	blood:
4	chr1:197809186..197812182-chr1:197819659..197821945,2	K562	blood:
5	chr1:197817283..197820451-chr1:197820588..197822788,3	K562	blood:
6	chr1:197822978..197825058-chr1:197829102..197831740,2	K562	blood:
7	chr1:197811474..197814221-chr1:197972912..197974948,2	K562	blood:
8	chr1:197806907..197812092-chr1:197812928..197815957,4	K562	blood:
9	chr1:197806907..197812092-chr1:197812928..197815957,4	K562	blood:

No data

Extended variants
information (count: 425 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371214486	chr1:197806804-197806805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs957939	chr1:197806816-197806817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532447978	chr1:197806856-197806857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541009269	chr1:197806911-197806912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4579789	chr1:197806934-197806935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115718900	chr1:197806953-197806954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11807890	chr1:197806977-197806978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548931901	chr1:197807018-197807019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11807143	chr1:197807041-197807042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531644850	chr1:197807072-197807073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536189161	chr1:197807102-197807103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116579685	chr1:197807103-197807104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11806805	chr1:197807117-197807118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11811544	chr1:197807133-197807134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144181114	chr1:197807148-197807149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536272352	chr1:197807168-197807169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557128591	chr1:197807190-197807191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11811562	chr1:197807281-197807282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576209138	chr1:197807303-197807304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11808290	chr1:197807326-197807327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558612680	chr1:197807352-197807353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76863690	chr1:197807354-197807355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78894641	chr1:197807382-197807383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376211832	chr1:197807397-197807398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559403038	chr1:197807417-197807418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74941057	chr1:197807426-197807427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528188993	chr1:197807463-197807464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201856811	chr1:197807464-197807465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150112752	chr1:197807471-197807472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542612879	chr1:197807474-197807475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148081464	chr1:197807543-197807544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531586245	chr1:197807588-197807589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141825824	chr1:197807600-197807601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561225370	chr1:197807650-197807651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368719439	chr1:197807651-197807652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202017915	chr1:197807674-197807675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547939190	chr1:197807794-197807795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541403624	chr1:197807796-197807797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115553137	chr1:197807797-197807798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554614432	chr1:197807829-197807830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116761956	chr1:197807843-197807844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77109101	chr1:197807878-197807879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12137370	chr1:197807894-197807895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76835101	chr1:197807905-197807906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35097990	chr1:197807998-197807999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6703636	chr1:197808034-197808035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs80201718	chr1:197808071-197808072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77296983	chr1:197808115-197808116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77528500	chr1:197808157-197808158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191017982	chr1:197808196-197808197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197806800-197807400	Enhancers	HepG2	liver
2	chr1:197806800-197809000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:197807000-197808400	Enhancers	Hela-S3	cervix
4	chr1:197807000-197808600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:197807000-197808600	Enhancers	HUVEC	blood vessel
6	chr1:197807000-197808600	Enhancers	NHDF-Ad	bronchial
7	chr1:197807200-197808000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:197807200-197808000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:197807200-197808200	Enhancers	HMEC	breast
10	chr1:197807200-197808400	Enhancers	A549	lung
11	chr1:197807200-197808600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:197807200-197808600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:197807200-197808600	Enhancers	Osteobl	bone
14	chr1:197807200-197808800	Enhancers	NHEK	skin
15	chr1:197807400-197808000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:197807600-197808000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:197807600-197808000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:197807600-197808000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:197807600-197808000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:197807600-197808600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:197807800-197808400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:197808000-197808400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:197808000-197810400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:197808000-197814400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:197808400-197810600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:197808400-197810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:197808600-197810600	Weak transcription	NHDF-Ad	bronchial
28	chr1:197808600-197810600	Weak transcription	Osteobl	bone
29	chr1:197808600-197811200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:197808600-197811200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:197808600-197811200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:197808800-197812600	Weak transcription	NHEK	skin
33	chr1:197809000-197810400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:197810400-197810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:197810400-197810800	Enhancers	Colonic Mucosa	Colon
36	chr1:197810400-197810800	Enhancers	K562	blood
37	chr1:197810400-197811800	Enhancers	Fetal Lung	lung
38	chr1:197810400-197812800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:197810600-197811400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:197810600-197811600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:197810600-197811800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:197810600-197812000	Enhancers	NHDF-Ad	bronchial
43	chr1:197810600-197812000	Enhancers	Osteobl	bone
44	chr1:197810800-197811200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:197810800-197811600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:197810800-197811800	Weak transcription	Colonic Mucosa	Colon
47	chr1:197810800-197814000	Weak transcription	K562	blood
48	chr1:197811000-197811200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:197811000-197811800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:197811200-197811400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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