Variant report

Variant	nsv525153
Chromosome Location	chr1:195866450-195930996
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
2	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
3	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
4	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
5	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
6	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
7	chr1:195908909..195909846-chr1:196117249..196118180,3	MCF-7	breast:
8	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
9	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
10	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
11	chr1:195908049..195910534-chr1:195911759..195915104,3	K562	blood:
12	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
13	chr1:195871895..195874613-chr1:195874737..195876841,2	K562	blood:
14	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
15	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
16	chr1:195922958..195925594-chr1:195930785..195932321,2	K562	blood:
17	chr1:195908660..195909465-chr11:60896948..60897811,2	MCF-7	breast:
18	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
19	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
20	chr1:195868249..195869806-chr1:196117660..196119687,2	K562	blood:
21	chr1:195930176..195932794-chr1:195935664..195937218,2	K562	blood:
22	chr1:195891817..195893332-chr1:196109903..196112041,2	K562	blood:
23	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
24	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
25	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
26	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
27	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
28	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
29	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
30	chr1:195908986..195909573-chr1:196113721..196114467,3	MCF-7	breast:
31	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
32	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
33	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
34	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:

No data

Extended variants
information (count: 1417 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1376803	chr1:195866450-195866451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1993134	chr1:195866459-195866460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566677747	chr1:195866463-195866464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533764548	chr1:195866475-195866476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548666100	chr1:195866479-195866480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567258238	chr1:195866487-195866488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537509022	chr1:195866510-195866511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531381920	chr1:195866539-195866540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555883296	chr1:195866547-195866548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577815701	chr1:195866616-195866617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186297379	chr1:195866621-195866622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571116890	chr1:195866624-195866625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111873140	chr1:195866631-195866632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191863251	chr1:195866632-195866633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145533300	chr1:195866635-195866636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73072895	chr1:195866652-195866653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183313311	chr1:195866709-195866710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138043939	chr1:195866711-195866712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533135625	chr1:195866733-195866734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188330738	chr1:195866819-195866820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562527699	chr1:195866868-195866869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560308561	chr1:195866941-195866942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527548654	chr1:195867070-195867071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549270477	chr1:195867080-195867081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386638216	chr1:195867105-195867106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537496989	chr1:195867107-195867108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549444507	chr1:195867126-195867127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142535790	chr1:195867129-195867130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3010144	chr1:195867138-195867139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556073735	chr1:195867178-195867179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551770620	chr1:195867183-195867184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1451912	chr1:195867209-195867210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192777152	chr1:195867222-195867223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536503401	chr1:195867226-195867227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538430560	chr1:195867229-195867230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182461535	chr1:195867310-195867311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576500683	chr1:195867321-195867322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144718615	chr1:195867348-195867349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148217099	chr1:195867374-195867375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141180377	chr1:195867388-195867389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556755008	chr1:195867447-195867448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114996423	chr1:195867530-195867531	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541974222	chr1:195867559-195867560	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs578127192	chr1:195867639-195867640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79810528	chr1:195867661-195867662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs369785313	chr1:195867718-195867719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544749584	chr1:195867723-195867724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs150719701	chr1:195867726-195867727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12750855	chr1:195867743-195867744	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549332502	chr1:195867751-195867752	Enhancers Weak transcription Flanking Active TSS	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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195864200-195868800	Weak transcription	HMEC	breast
2	chr1:195864400-195868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:195864400-195869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:195866400-195866600	Enhancers	K562	blood
5	chr1:195866600-195867000	Weak transcription	K562	blood
6	chr1:195866800-195869400	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:195867000-195867600	Enhancers	K562	blood
8	chr1:195867000-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:195867200-195867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:195867200-195867800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:195867400-195868200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:195867400-195868600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:195867600-195867800	Flanking Active TSS	K562	blood
14	chr1:195867800-195868800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:195867800-195868800	Active TSS	K562	blood
16	chr1:195868200-195870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:195868600-195869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:195868800-195869200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:195868800-195869400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:195868800-195869400	Enhancers	HMEC	breast
21	chr1:195868800-195869400	Enhancers	NHDF-Ad	bronchial
22	chr1:195868800-195869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:195868800-195870800	Enhancers	K562	blood
24	chr1:195869000-195869400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:195869800-195870400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:195870400-195871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:195870800-195871600	Weak transcription	K562	blood
28	chr1:195871000-195872000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:195871000-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:195871600-195871800	Active TSS	K562	blood
31	chr1:195871800-195872600	Flanking Active TSS	K562	blood
32	chr1:195872000-195872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:195872400-195876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:195872600-195873200	Enhancers	K562	blood
35	chr1:195876600-195876800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:195876800-195877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:195876800-195877000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:195876800-195877400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:195876800-195878000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:195876800-195878400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:195876800-195878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:195876800-195878400	Enhancers	NHEK	skin
44	chr1:195876800-195878600	Enhancers	HMEC	breast
45	chr1:195877000-195877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:195877000-195877400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:195877000-195877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:195877000-195877800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:195877000-195878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:195877400-195877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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