Variant report

Variant	nsv1002817
Chromosome Location	chr1:191723748-191756690
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:0)
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	chr1:191747805..191749831-chr1:191750174..191752382,2	MCF-7	breast:
2	chr1:191754947..191757355-chr1:191758290..191760631,2	MCF-7	breast:
3	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
4	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
5	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
6	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
7	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:
8	chr1:191747805..191749831-chr1:191750174..191752382,2	MCF-7	breast:
9	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
10	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:

No data

Extended variants
information (count: 423 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527755266	chr1:191725616-191725617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567052246	chr1:191725629-191725630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547580915	chr1:191725698-191725699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114558867	chr1:191725714-191725715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376144064	chr1:191725769-191725770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534167913	chr1:191725811-191725812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377052125	chr1:191725821-191725822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182369822	chr1:191725842-191725843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533213294	chr1:191725887-191725888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550447838	chr1:191725902-191725903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570042902	chr1:191725904-191725905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532896788	chr1:191725939-191725940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549132169	chr1:191725977-191725978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142166623	chr1:191725993-191725994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs833969	chr1:191725997-191725998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545843598	chr1:191726037-191726038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557608658	chr1:191726140-191726141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs833968	chr1:191726158-191726159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147789651	chr1:191726200-191726201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186058080	chr1:191726315-191726316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557275543	chr1:191726319-191726320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191105423	chr1:191726340-191726341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367951593	chr1:191726380-191726381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542962086	chr1:191726413-191726414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559539955	chr1:191726473-191726474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545003569	chr1:191726533-191726534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577277163	chr1:191726550-191726551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544714929	chr1:191726570-191726571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572964876	chr1:191726583-191726584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372078076	chr1:191726627-191726628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200781278	chr1:191726662-191726663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372673368	chr1:191726672-191726673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12760758	chr1:191726673-191726674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12742124	chr1:191726675-191726676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369039681	chr1:191726677-191726678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373399147	chr1:191726679-191726680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376842689	chr1:191726681-191726682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142894113	chr1:191726683-191726684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71522445	chr1:191726684-191726685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111551546	chr1:191726685-191726686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369907933	chr1:191726687-191726688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373506187	chr1:191726689-191726690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376769178	chr1:191726691-191726692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369093389	chr1:191726693-191726694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373889141	chr1:191726695-191726696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71107467	chr1:191726703-191726704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182087695	chr1:191726716-191726717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116086162	chr1:191726718-191726719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114844776	chr1:191726720-191726721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185498816	chr1:191726748-191726749	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191725600-191726600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:191725600-191727000	Enhancers	Dnd41	blood
3	chr1:191725800-191726600	Enhancers	K562	blood
4	chr1:191734800-191735200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:191735200-191740000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:191739800-191741800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:191740000-191740600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:191740000-191741400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:191740000-191741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:191740200-191740400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:191740200-191741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:191740200-191741200	Enhancers	Fetal Heart	heart
13	chr1:191740200-191741400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:191740200-191741600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:191740200-191741600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:191740400-191740600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:191740400-191741200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:191740400-191741200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:191740400-191741600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:191740600-191740800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:191740600-191741400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:191740800-191741200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:191741200-191742400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:191742400-191744200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:191750800-191751200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:191751000-191751400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:191755200-191755400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:191755400-191757600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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