Variant report

Variant	nsv548595
Chromosome Location	chr1:191636974-191693460
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
2	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
3	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
4	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
5	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
6	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
7	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
8	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
9	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
10	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1260 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1260 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12118448	chr1:191636974-191636975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375868207	chr1:191636988-191636989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557591436	chr1:191637038-191637039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569107822	chr1:191637041-191637042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186925954	chr1:191637080-191637081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565995732	chr1:191637099-191637100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16833674	chr1:191637101-191637102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373668632	chr1:191637117-191637118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568446328	chr1:191637120-191637121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534245027	chr1:191637152-191637153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370654960	chr1:191637186-191637187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2785775	chr1:191637193-191637194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544366838	chr1:191637248-191637249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56113273	chr1:191637366-191637367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556271859	chr1:191637367-191637368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555970037	chr1:191637800-191637801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569759475	chr1:191637821-191637822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535218719	chr1:191637828-191637829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369866395	chr1:191637841-191637842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189878354	chr1:191637846-191637847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72727140	chr1:191637914-191637915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148298806	chr1:191637943-191637944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373788564	chr1:191637948-191637949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562767234	chr1:191637973-191637974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192530990	chr1:191637991-191637992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12035648	chr1:191638209-191638210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12062614	chr1:191638217-191638218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1336853	chr1:191638233-191638234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147208745	chr1:191638296-191638297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544230427	chr1:191638297-191638298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186158796	chr1:191638323-191638324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140615268	chr1:191638339-191638340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189211160	chr1:191638376-191638377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12067470	chr1:191638382-191638383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34854409	chr1:191638398-191638399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180889461	chr1:191638468-191638469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374232346	chr1:191638489-191638490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577843084	chr1:191638541-191638542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376299730	chr1:191638552-191638553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185799236	chr1:191638557-191638558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142791256	chr1:191638567-191638568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541918467	chr1:191638585-191638586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67344907	chr1:191638660-191638661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572092166	chr1:191638696-191638697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541054906	chr1:191638721-191638722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564160006	chr1:191638731-191638732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191444891	chr1:191638733-191638734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528108926	chr1:191638738-191638739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56313868	chr1:191638814-191638815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201984110	chr1:191638899-191638900	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191635800-191637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191637800-191638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:191638200-191639400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:191638200-191641000	Enhancers	NH-A	brain
5	chr1:191639200-191639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:191639400-191640600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:191639600-191640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:191640600-191641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:191640600-191641000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:191640600-191641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:191641000-191641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:191641200-191643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:191643400-191645200	Enhancers	Colon Smooth Muscle	Colon
14	chr1:191643400-191645600	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:191643600-191643800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:191643600-191644200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:191643600-191644200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:191643600-191644200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:191643600-191644400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:191643600-191644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:191643600-191644400	Enhancers	Fetal Stomach	stomach
22	chr1:191643600-191645400	Enhancers	Adipose Nuclei	Adipose
23	chr1:191643800-191644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:191643800-191644200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:191643800-191644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:191643800-191644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:191643800-191644400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:191643800-191644400	Enhancers	Fetal Heart	heart
29	chr1:191643800-191644600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:191643800-191645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:191644000-191644400	Enhancers	Ovary	ovary
32	chr1:191644600-191645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:191645200-191645400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:191645200-191646000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:191646000-191646200	Enhancers	Ovary	ovary
36	chr1:191648800-191650000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:191649000-191649800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:191649200-191649600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:191650400-191651600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:191651600-191652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:191652000-191654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:191654000-191655000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:191655000-191657200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:191657200-191658200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:191658200-191658400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:191661400-191662200	Enhancers	HSMMtube	muscle
47	chr1:191661600-191662200	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:191661600-191662200	Enhancers	Psoas Muscle	Psoas
49	chr1:191661600-191663800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:191662000-191662200	Enhancers	Skeletal Muscle Male	skeletal muscle

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