Variant report

Variant	nsv525247
Chromosome Location	chr1:195527078-195576380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
2	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
3	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
4	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
5	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
6	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:

Extended variants
information (count: 564 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:564 , 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	rs534005738	chr1:195536818-195536819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374277621	chr1:195536860-195536861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555767663	chr1:195536862-195536863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368194689	chr1:195536877-195536878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149302459	chr1:195536909-195536910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544553011	chr1:195536937-195536938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562833472	chr1:195536971-195536972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143536673	chr1:195537042-195537043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545587420	chr1:195537054-195537055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185282753	chr1:195537068-195537069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148008877	chr1:195537081-195537082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112284040	chr1:195537101-195537102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569879419	chr1:195537117-195537118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546354679	chr1:195537127-195537128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2480755	chr1:195537137-195537138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528883667	chr1:195537145-195537146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558575100	chr1:195537187-195537188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569174511	chr1:195537188-195537189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539713644	chr1:195537192-195537193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12062158	chr1:195537207-195537208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566536118	chr1:195537350-195537351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576912205	chr1:195537358-195537359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534332272	chr1:195537438-195537439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2263381	chr1:195537470-195537471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573739120	chr1:195537524-195537525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529996299	chr1:195537571-195537572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537858656	chr1:195537579-195537580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556092969	chr1:195537604-195537605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2480756	chr1:195537767-195537768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190067040	chr1:195537800-195537801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545360760	chr1:195537806-195537807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554370692	chr1:195537809-195537810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145952620	chr1:195537812-195537813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368737951	chr1:195537835-195537836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35086580	chr1:195537857-195537858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182353151	chr1:195537961-195537962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186577117	chr1:195537983-195537984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528947185	chr1:195538002-195538003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139800106	chr1:195538003-195538004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192436872	chr1:195538037-195538038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533294050	chr1:195538038-195538039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113401022	chr1:195538051-195538052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542117999	chr1:195538057-195538058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386638193	chr1:195538109-195538110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61819260	chr1:195538110-195538111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61819261	chr1:195538111-195538112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563591770	chr1:195538190-195538191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530445653	chr1:195546808-195546809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201182894	chr1:195546812-195546813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186876388	chr1:195546850-195546851	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:195546800-195547400	Enhancers	Ovary	ovary
5	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:195554000-195554400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:195554000-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:195554000-195555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:195554200-195554600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:195554200-195554600	Enhancers	HMEC	breast
11	chr1:195554200-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:195554400-195554800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:195554800-195555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:195554800-195559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:195555400-195555600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:195559600-195560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:195559600-195561400	Enhancers	NH-A	brain
18	chr1:195559800-195560200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:195559800-195561600	Enhancers	Hela-S3	cervix
20	chr1:195559800-195562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:195560000-195560800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:195560200-195562800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:195560400-195561200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:195560400-195562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:195560600-195561000	Enhancers	NHDF-Ad	bronchial
26	chr1:195560600-195562000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:195560600-195562000	Enhancers	NHEK	skin
28	chr1:195560800-195562400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:195561000-195561400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:195561000-195561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:195561000-195562200	Weak transcription	NHDF-Ad	bronchial
32	chr1:195561200-195561600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:195561200-195561600	Enhancers	A549	lung
34	chr1:195561800-195563200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:195562000-195562800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:195562200-195562600	Enhancers	HMEC	breast
37	chr1:195562200-195562800	Enhancers	NHDF-Ad	bronchial
38	chr1:195562400-195562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:195562600-195562800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:195562600-195562800	Enhancers	Colonic Mucosa	Colon
41	chr1:195562800-195563200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:195563200-195563600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr1:195563200-195564400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:195563400-195563800	Active TSS	Colonic Mucosa	Colon
45	chr1:195563400-195564000	Active TSS	Rectal Smooth Muscle	rectum
46	chr1:195563600-195564000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:195573200-195573600	Enhancers	A549	lung
48	chr1:195573200-195573800	Enhancers	NHEK	skin
49	chr1:195573200-195574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:195573800-195574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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