Variant report

Variant	nsv872940
Chromosome Location	chr1:195605435-195668756
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
2	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
3	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
4	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
5	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:
6	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
7	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
8	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
9	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
10	chr1:195648419..195651037-chr1:195656672..195659397,2	K562	blood:
11	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
12	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
13	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
14	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
15	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:

No data

Extended variants
information (count: 417 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:417 , 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	rs563237223	chr1:195606681-195606682	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372978332	chr1:195606705-195606706	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530668789	chr1:195606715-195606716	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545600878	chr1:195606728-195606729	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542769218	chr1:195606732-195606733	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564271173	chr1:195606738-195606739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10921881	chr1:195606741-195606742	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183563442	chr1:195606743-195606744	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141783470	chr1:195606798-195606799	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531597879	chr1:195606809-195606810	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529279007	chr1:195606827-195606828	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543666857	chr1:195606828-195606829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551344689	chr1:195606944-195606945	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569575470	chr1:195607004-195607005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540100265	chr1:195607007-195607008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558402644	chr1:195607032-195607033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188517610	chr1:195607050-195607051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191848421	chr1:195607060-195607061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553020513	chr1:195607112-195607113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375744211	chr1:195607129-195607130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182495469	chr1:195607147-195607148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541425073	chr1:195607183-195607184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374285159	chr1:195608202-195608203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560840668	chr1:195608208-195608209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373664468	chr1:195608242-195608243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527936217	chr1:195608284-195608285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549568545	chr1:195608322-195608323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185234695	chr1:195608346-195608347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190136072	chr1:195608380-195608381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545990043	chr1:195608394-195608395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181213341	chr1:195608409-195608410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114610264	chr1:195608446-195608447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557423145	chr1:195608453-195608454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573103620	chr1:195608461-195608462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533812703	chr1:195608468-195608469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555560735	chr1:195608499-195608500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557888388	chr1:195608529-195608530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544780450	chr1:195608555-195608556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553096183	chr1:195608576-195608577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563080879	chr1:195608603-195608604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578237364	chr1:195608612-195608613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112458599	chr1:195608644-195608645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560658449	chr1:195608657-195608658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183835667	chr1:195608683-195608684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35769436	chr1:195608693-195608694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549132719	chr1:195608749-195608750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561013583	chr1:195608773-195608774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574565650	chr1:195608777-195608778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536701595	chr1:195608779-195608780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531702414	chr1:195608869-195608870	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195606600-195607000	Active TSS	Fetal Lung	lung
2	chr1:195606600-195607000	Active TSS	NHDF-Ad	bronchial
3	chr1:195606600-195607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:195606600-195607200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:195606600-195607200	Enhancers	Fetal Brain Female	brain
6	chr1:195606800-195607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:195608200-195609000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:195608400-195609000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:195621600-195622000	Active TSS	A549	lung
10	chr1:195632400-195634000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:195632400-195634200	Enhancers	HMEC	breast
12	chr1:195632600-195633200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:195632600-195633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:195632600-195634000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:195632800-195633200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:195632800-195633200	Enhancers	A549	lung
17	chr1:195632800-195633600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:195632800-195633600	Enhancers	Hela-S3	cervix
19	chr1:195632800-195634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:195632800-195634000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:195632800-195634200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:195633000-195633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:195633000-195634200	Enhancers	NHEK	skin
24	chr1:195633200-195633400	Flanking Active TSS	A549	lung
25	chr1:195633200-195633600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:195633200-195634200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:195633200-195634200	Enhancers	NHDF-Ad	bronchial
28	chr1:195633400-195634000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:195633600-195634400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:195634000-195635200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:195641200-195641400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:195653600-195659000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:195655000-195657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:195668200-195668600	Active TSS	NHDF-Ad	bronchial

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