Variant report

Variant	nsv872950
Chromosome Location	chr1:195941818-195995948
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

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

No data

Extended variants
information (count: 614 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569222455	chr1:195948807-195948808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142857668	chr1:195948817-195948818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151044433	chr1:195948841-195948842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140384571	chr1:195948911-195948912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72744106	chr1:195948958-195948959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370454288	chr1:195949004-195949005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185898925	chr1:195949032-195949033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551246193	chr1:195949034-195949035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140928106	chr1:195949040-195949041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574305541	chr1:195949048-195949049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192422975	chr1:195949072-195949073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115096757	chr1:195949101-195949102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575173324	chr1:195949104-195949105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545520536	chr1:195949116-195949117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368711145	chr1:195949130-195949131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183874304	chr1:195949145-195949146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528146274	chr1:195949147-195949148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540351456	chr1:195949162-195949163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10922003	chr1:195949169-195949170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529549588	chr1:195949201-195949202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533400056	chr1:195949212-195949213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551452258	chr1:195949250-195949251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551237414	chr1:195949255-195949256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563086936	chr1:195949330-195949331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372361909	chr1:195949354-195949355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149968072	chr1:195949371-195949372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376672599	chr1:195949414-195949415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369693048	chr1:195949428-195949429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566405277	chr1:195949429-195949430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145088036	chr1:195949444-195949445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190444556	chr1:195949518-195949519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533903091	chr1:195949522-195949523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35601400	chr1:195949551-195949552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376250637	chr1:195949557-195949558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182744580	chr1:195949562-195949563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141065425	chr1:195949572-195949573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373606622	chr1:195949587-195949588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557211163	chr1:195949614-195949615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534112721	chr1:195949625-195949626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144786001	chr1:195949642-195949643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187032900	chr1:195949643-195949644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146715404	chr1:195949669-195949670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572893087	chr1:195949684-195949685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540315480	chr1:195949711-195949712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140299780	chr1:195949728-195949729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192649571	chr1:195949737-195949738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544521246	chr1:195949790-195949791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35789155	chr1:195949834-195949835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184586641	chr1:195949868-195949869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187582464	chr1:195949885-195949886	Weak transcription	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:67 , 50 per page) page: 1 2

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

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