Variant report

Variant	nsv947382
Chromosome Location	chr1:217406493-217418976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:217413884..217416566-chr21:33031783..33034561,2	MCF-7	breast:
2	chr1:217418281..217419132-chr15:91474949..91475748,2	MCF-7	breast:
3	chr1:217409270..217409986-chr5:127479273..127479788,2	MCF-7	breast:
4	chr1:217414322..217416803-chr1:217420667..217423030,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESRRG-1	chr1:217413435-217413716	ucscGeneNc_uc001hlp_2

Variant related genes	Relation type
ENSG00000184508	chromatin interactions
ENSG00000234509	chromatin interactions
ENSG00000142168	chromatin interactions

Extended variants
information (count: 300 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569402375	chr1:217406522-217406523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142066651	chr1:217406523-217406524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374479099	chr1:217406545-217406546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566492928	chr1:217406569-217406570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532111262	chr1:217406606-217406607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538068872	chr1:217406611-217406612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568887270	chr1:217406626-217406627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191660413	chr1:217406635-217406636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183466031	chr1:217406639-217406640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12067000	chr1:217406664-217406665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534171675	chr1:217406691-217406692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571828373	chr1:217406770-217406771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577298644	chr1:217406798-217406799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372744904	chr1:217406800-217406801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188008299	chr1:217406805-217406806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146331443	chr1:217406832-217406833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556254253	chr1:217406849-217406850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576030080	chr1:217406857-217406858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4332417	chr1:217406858-217406859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560888267	chr1:217406895-217406896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192988850	chr1:217406920-217406921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577870098	chr1:217406933-217406934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540081611	chr1:217406958-217406959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546015324	chr1:217406978-217406979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532075551	chr1:217406988-217406989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116516947	chr1:217409808-217409809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565422691	chr1:217409818-217409819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180729052	chr1:217409833-217409834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531706055	chr1:217409834-217409835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80327440	chr1:217409863-217409864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529495339	chr1:217409883-217409884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186368580	chr1:217409894-217409895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529158333	chr1:217409907-217409908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192113132	chr1:217409948-217409949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551251731	chr1:217409950-217409951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74965692	chr1:217409958-217409959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74141796	chr1:217409959-217409960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571039877	chr1:217409982-217409983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551865235	chr1:217410013-217410014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530563162	chr1:217410037-217410038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113010297	chr1:217410045-217410046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536636326	chr1:217410056-217410057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556507387	chr1:217410079-217410080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144763696	chr1:217410092-217410093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536906772	chr1:217410113-217410114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565090728	chr1:217410114-217410115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527902784	chr1:217410115-217410116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573379438	chr1:217410117-217410118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183818416	chr1:217410122-217410123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372910157	chr1:217410123-217410124	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217406000-217406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:217406800-217407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:217409800-217410800	Enhancers	Fetal Heart	heart
4	chr1:217410000-217411400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:217410400-217411000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:217417400-217418800	Enhancers	Aorta	Aorta
7	chr1:217418200-217418600	Enhancers	Fetal Brain Male	brain
8	chr1:217418200-217419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:217418200-217419000	Enhancers	Adipose Nuclei	Adipose

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