Variant report

Variant	nsv1012077
Chromosome Location	chr1:195477551-195569614
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	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
2	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
3	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
4	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
5	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
6	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
7	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
8	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
9	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
10	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
11	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
12	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
13	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
14	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
15	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:

No data

Extended variants
information (count: 875 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11802764	chr1:195478208-195478209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576251646	chr1:195478238-195478239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558793260	chr1:195478240-195478241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543528122	chr1:195478264-195478265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149601358	chr1:195478274-195478275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181275298	chr1:195478293-195478294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540979635	chr1:195478310-195478311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144275094	chr1:195478315-195478316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574664072	chr1:195478316-195478317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368656253	chr1:195478323-195478324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370959234	chr1:195478342-195478343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566047477	chr1:195478357-195478358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372211140	chr1:195478358-195478359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371924263	chr1:195478620-195478621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185427093	chr1:195478624-195478625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143607011	chr1:195478680-195478681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374853029	chr1:195478731-195478732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567660444	chr1:195478779-195478780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569488044	chr1:195478780-195478781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188233951	chr1:195478791-195478792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558687547	chr1:195478823-195478824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375912831	chr1:195478836-195478837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576970559	chr1:195478884-195478885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200988908	chr1:195478888-195478889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553200856	chr1:195478896-195478897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534359352	chr1:195478906-195478907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146293961	chr1:195478970-195478971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139975987	chr1:195478973-195478974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143473882	chr1:195478997-195478998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563405352	chr1:195479030-195479031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575120592	chr1:195479039-195479040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76566321	chr1:195479120-195479121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181973978	chr1:195479127-195479128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140273657	chr1:195479128-195479129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1856559	chr1:195479135-195479136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562092705	chr1:195479193-195479194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113066543	chr1:195479195-195479196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551278403	chr1:195479226-195479227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1832551	chr1:195479277-195479278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540046671	chr1:195479302-195479303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551992952	chr1:195479325-195479326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570605603	chr1:195479348-195479349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563116860	chr1:195479449-195479450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114559090	chr1:195479450-195479451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575150889	chr1:195479461-195479462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552725217	chr1:195479473-195479474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200594957	chr1:195479476-195479477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568066079	chr1:195479485-195479486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545821759	chr1:195479488-195479489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187089124	chr1:195479497-195479498	Weak transcription	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
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
early-passage human iPS cells	21368824	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:195546800-195547400	Enhancers	Ovary	ovary
21	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:195554000-195554400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:195554000-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:195554000-195555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:195554200-195554600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:195554200-195554600	Enhancers	HMEC	breast
27	chr1:195554200-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:195554400-195554800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:195554800-195555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:195554800-195559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:195555400-195555600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:195559600-195560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:195559600-195561400	Enhancers	NH-A	brain
34	chr1:195559800-195560200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:195559800-195561600	Enhancers	Hela-S3	cervix
36	chr1:195559800-195562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:195560000-195560800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:195560200-195562800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:195560400-195561200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:195560400-195562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:195560600-195561000	Enhancers	NHDF-Ad	bronchial
42	chr1:195560600-195562000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:195560600-195562000	Enhancers	NHEK	skin
44	chr1:195560800-195562400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:195561000-195561400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:195561000-195561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:195561000-195562200	Weak transcription	NHDF-Ad	bronchial
48	chr1:195561200-195561600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:195561200-195561600	Enhancers	A549	lung
50	chr1:195561800-195563200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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