Variant report

Variant	nsv872949
Chromosome Location	chr1:195940509-195999508
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
2	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
3	chr1:195988890..195990860-chr1:195993598..195995590,2	K562	blood:
4	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
5	chr1:195908810..195909713-chr1:195998289..195999101,3	MCF-7	breast:
6	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
7	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
8	chr1:195960940..195963536-chr1:195979174..195981179,2	K562	blood:
9	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
10	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
11	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
12	chr1:195908822..195909639-chr1:195998328..195999154,5	MCF-7	breast:
13	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
14	chr1:195993999..195996870-chr1:195997208..196000349,3	K562	blood:
15	chr1:195950441..195952834-chr1:195961888..195963908,2	K562	blood:
16	chr1:195933946..195935756-chr1:195940527..195943521,2	K562	blood:
17	chr1:195986781..195988746-chr1:195990099..195991886,2	K562	blood:
18	chr1:195946889..195949248-chr1:195951853..195953938,2	K562	blood:
19	chr1:195947665..195949248-chr1:195952438..195954164,2	K562	blood:
20	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
21	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
22	chr1:195941539..195944213-chr1:195949780..195952268,2	K562	blood:
23	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
24	chr1:195953922..195957101-chr1:195959349..195962139,3	K562	blood:
25	chr1:195975438..195979095-chr1:195981276..195984645,3	K562	blood:
26	chr1:195954938..195957101-chr1:195959563..195962139,2	K562	blood:
27	chr1:195935419..195938367-chr1:195956376..195957962,2	K562	blood:

No data

Extended variants
information (count: 681 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7515027	chr1:195940509-195940510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112359592	chr1:195940534-195940535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536759246	chr1:195940574-195940575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558679657	chr1:195940577-195940578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs979768	chr1:195940604-195940605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577389092	chr1:195940620-195940621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs976527	chr1:195940621-195940622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77246346	chr1:195940643-195940644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146492000	chr1:195940675-195940676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367571518	chr1:195940683-195940684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372268474	chr1:195940690-195940691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574718205	chr1:195940700-195940701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186580022	chr1:195940742-195940743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77662779	chr1:195940757-195940758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563760303	chr1:195940821-195940822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199900358	chr1:195940829-195940830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs976526	chr1:195940833-195940834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56979939	chr1:195940835-195940836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386638221	chr1:195940836-195940837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58023626	chr1:195940837-195940838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377160799	chr1:195940838-195940839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147886617	chr1:195940870-195940871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200770560	chr1:195940879-195940880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570873186	chr1:195940921-195940922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532354547	chr1:195940949-195940950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547361455	chr1:195940950-195940951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565994729	chr1:195940959-195940960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528176756	chr1:195940967-195940968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141524817	chr1:195940991-195940992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192691027	chr1:195940994-195940995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368405609	chr1:195941001-195941002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534893736	chr1:195941040-195941041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184017746	chr1:195941069-195941070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539897426	chr1:195941166-195941167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188416615	chr1:195941175-195941176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536720896	chr1:195941226-195941227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554240156	chr1:195941233-195941234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114476552	chr1:195941261-195941262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535246619	chr1:195941296-195941297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4657816	chr1:195941320-195941321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs575114273	chr1:195941342-195941343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146238590	chr1:195941390-195941391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193019366	chr1:195941438-195941439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369277505	chr1:195941479-195941480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148274718	chr1:195941508-195941509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4657817	chr1:195941513-195941514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184870044	chr1:195941542-195941543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537096016	chr1:195941584-195941585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569222455	chr1:195948807-195948808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142857668	chr1:195948817-195948818	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195935000-195940600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:195940600-195941600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:195941200-195941600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:195948800-195949400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:195949000-195949200	Enhancers	NHEK	skin
6	chr1:195949000-195949400	Enhancers	HMEC	breast
7	chr1:195949200-195949400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:195949200-195950600	Weak transcription	NHEK	skin
9	chr1:195949400-195950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:195949400-195950600	Weak transcription	HMEC	breast
11	chr1:195949400-195950800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:195950000-195950800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:195950600-195951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:195950600-195951400	Enhancers	HMEC	breast
15	chr1:195950600-195952000	Enhancers	NHEK	skin
16	chr1:195950800-195951200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:195950800-195951200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:195950800-195951800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:195951200-195951800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:195964800-195965200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:195967200-195971200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:195968600-195969000	Enhancers	Esophagus	oesophagus
23	chr1:195969000-195971000	Weak transcription	Esophagus	oesophagus
24	chr1:195969000-195972000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:195970000-195972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:195970000-195972200	Enhancers	Placenta	Placenta
27	chr1:195970200-195973000	Enhancers	NHEK	skin
28	chr1:195970400-195970600	Enhancers	HMEC	breast
29	chr1:195970400-195972600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:195970600-195971600	Weak transcription	HMEC	breast
31	chr1:195970800-195972600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:195971000-195971200	Enhancers	Esophagus	oesophagus
33	chr1:195971200-195971600	Weak transcription	Esophagus	oesophagus
34	chr1:195971200-195972800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:195971200-195973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:195971600-195972200	Enhancers	Esophagus	oesophagus
37	chr1:195971600-195972600	Enhancers	HMEC	breast
38	chr1:195971600-195973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:195971600-195973800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:195972000-195972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:195972000-195972400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:195972000-195973400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:195972200-195972600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:195972200-195973200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:195972200-195974000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:195972200-195975200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:195972600-195973600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:195972800-195973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:195973200-195973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:195973400-195974600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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