Variant report

Variant	nsv872818
Chromosome Location	chr1:191615655-191809160
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:50)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
2	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:
3	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
4	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
5	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
6	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:
7	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
8	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
9	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
10	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
11	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:
12	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:
13	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
14	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
15	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
16	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
17	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
18	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
19	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:
20	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
21	chr1:191747805..191749831-chr1:191750174..191752382,2	MCF-7	breast:
22	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
23	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
24	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
25	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
26	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
27	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
28	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
29	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
30	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
31	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
32	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
33	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
34	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
35	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
36	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
37	chr1:191754947..191757355-chr1:191758290..191760631,2	MCF-7	breast:
38	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
39	chr1:191754947..191757355-chr1:191758290..191760631,2	MCF-7	breast:
40	chr1:191764970..191767101-chr1:192222254..192224537,2	K562	blood:
41	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
42	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
43	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
44	chr1:191747805..191749831-chr1:191750174..191752382,2	MCF-7	breast:
45	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
46	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
47	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
48	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
49	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
50	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-3	chr1:191686588-191686611	XLOC_001131
2	lnc-FAM5C-3	chr1:191685359-191685577	XLOC_001131

No data

Variant related genes	Relation type
ARSB	miRNA target sites
G6PC3	miRNA target sites

Extended variants
information (count: 2348 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2348 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558526850	chr1:191619653-191619654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575505153	chr1:191619659-191619660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543974563	chr1:191619696-191619697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554320929	chr1:191619741-191619742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185188333	chr1:191619784-191619785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542702926	chr1:191619800-191619801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559842236	chr1:191619875-191619876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528426886	chr1:191619885-191619886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545392716	chr1:191619917-191619918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141136747	chr1:191619998-191619999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188925551	chr1:191620026-191620027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561921061	chr1:191620038-191620039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182011152	chr1:191620051-191620052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567847469	chr1:191620060-191620061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530362006	chr1:191620080-191620081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58841122	chr1:191620165-191620166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371200102	chr1:191620213-191620214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186167398	chr1:191620247-191620248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114778371	chr1:191620259-191620260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538217254	chr1:191620317-191620318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12145638	chr1:191620324-191620325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558540756	chr1:191620336-191620337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575519970	chr1:191620338-191620339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537732687	chr1:191620345-191620346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144740792	chr1:191620383-191620384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550018532	chr1:191622425-191622426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10530873	chr1:191622426-191622427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562609687	chr1:191622437-191622438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115875444	chr1:191622445-191622446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538322097	chr1:191622461-191622462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182618728	chr1:191622545-191622546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187692603	chr1:191622574-191622575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116263478	chr1:191622575-191622576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192800433	chr1:191622600-191622601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77961287	chr1:191622606-191622607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11358564	chr1:191622713-191622714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546349065	chr1:191622725-191622726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556315992	chr1:191622769-191622770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545071804	chr1:191622774-191622775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149625516	chr1:191622787-191622788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184848991	chr1:191622788-191622789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11804493	chr1:191630028-191630029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540947441	chr1:191630038-191630039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187282858	chr1:191630058-191630059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71639139	chr1:191630102-191630103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545490306	chr1:191630122-191630123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562245165	chr1:191630138-191630139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191844531	chr1:191630198-191630199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368397233	chr1:191630245-191630246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150672811	chr1:191630257-191630258	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191619600-191620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191619800-191620200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:191619800-191620200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:191619800-191620400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:191620000-191620400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:191620000-191620400	Enhancers	Adipose Nuclei	Adipose
7	chr1:191622400-191622800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:191630000-191630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:191630200-191630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:191630200-191630600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:191630400-191631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:191631200-191631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:191631400-191632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:191632200-191633200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:191633200-191634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:191634400-191635800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:191635800-191637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:191637800-191638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:191638200-191639400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:191638200-191641000	Enhancers	NH-A	brain
21	chr1:191639200-191639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:191639400-191640600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:191639600-191640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:191640600-191641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:191640600-191641000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:191640600-191641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:191641000-191641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:191641200-191643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:191643400-191645200	Enhancers	Colon Smooth Muscle	Colon
30	chr1:191643400-191645600	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:191643600-191643800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:191643600-191644200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:191643600-191644200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:191643600-191644200	Enhancers	Fetal Muscle Leg	muscle
35	chr1:191643600-191644400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:191643600-191644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:191643600-191644400	Enhancers	Fetal Stomach	stomach
38	chr1:191643600-191645400	Enhancers	Adipose Nuclei	Adipose
39	chr1:191643800-191644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:191643800-191644200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:191643800-191644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:191643800-191644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:191643800-191644400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:191643800-191644400	Enhancers	Fetal Heart	heart
45	chr1:191643800-191644600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:191643800-191645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:191644000-191644400	Enhancers	Ovary	ovary
48	chr1:191644600-191645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:191645200-191645400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:191645200-191646000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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