Variant report

Variant	nsv548735
Chromosome Location	chr1:195883861-195909700
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
2	chr1:195891817..195893332-chr1:196109903..196112041,2	K562	blood:
3	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
4	chr1:195908986..195909573-chr1:196113721..196114467,3	MCF-7	breast:
5	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
6	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
7	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
8	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
9	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
10	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
11	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
12	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
13	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
14	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
15	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
16	chr1:195908660..195909465-chr11:60896948..60897811,2	MCF-7	breast:
17	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:

No data

Extended variants
information (count: 375 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2923911	chr1:195883861-195883862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139205603	chr1:195883869-195883870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192122981	chr1:195883919-195883920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183044884	chr1:195883954-195883955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552550774	chr1:195883960-195883961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570438701	chr1:195883979-195883980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149945189	chr1:195883985-195883986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375826082	chr1:195884033-195884034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550634194	chr1:195884080-195884081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1376809	chr1:195884107-195884108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61672064	chr1:195884141-195884142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535547268	chr1:195884155-195884156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546184094	chr1:195884168-195884169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368523267	chr1:195884199-195884200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557263947	chr1:195884218-195884219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188088627	chr1:195884220-195884221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147620911	chr1:195884237-195884238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564477192	chr1:195884246-195884247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140472063	chr1:195884248-195884249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551674261	chr1:195884253-195884254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561747419	chr1:195884318-195884319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147792654	chr1:195884340-195884341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192418458	chr1:195884361-195884362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563334364	chr1:195884387-195884388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373147801	chr1:195884411-195884412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2923912	chr1:195884488-195884489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570724645	chr1:195884538-195884539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534919330	chr1:195884584-195884585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546579057	chr1:195884586-195884587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533771773	chr1:195884651-195884652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3008556	chr1:195884666-195884667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535197280	chr1:195884673-195884674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557049294	chr1:195884746-195884747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568262149	chr1:195884758-195884759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569338770	chr1:195884760-195884761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539613248	chr1:195884849-195884850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3008557	chr1:195884856-195884857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549555993	chr1:195884884-195884885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375950801	chr1:195884891-195884892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112757020	chr1:195884954-195884955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3008558	chr1:195884964-195884965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184321528	chr1:195884976-195884977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555465985	chr1:195884989-195884990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35055542	chr1:195885016-195885017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188099746	chr1:195885045-195885046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544356886	chr1:195885058-195885059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563033814	chr1:195885064-195885065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2334796	chr1:195885179-195885180	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12033198	chr1:195885221-195885222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573450357	chr1:195885286-195885287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:195885000-195885200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr1:195903800-195904200	Enhancers	Fetal Lung	lung
5	chr1:195904200-195904600	Active TSS	Fetal Lung	lung
6	chr1:195904400-195904800	Enhancers	Fetal Brain Female	brain
7	chr1:195908600-195909600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:195908800-195909400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195908800-195909600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:195908800-195909600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:195908800-195909800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:195909000-195909400	Enhancers	Gastric	stomach
13	chr1:195909000-195909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:195909200-195909400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:195909200-195910400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:195909200-195910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:195909200-195910400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:195909400-195910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:195909400-195910600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:195909600-195910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:195909600-195910800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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