Variant report

Variant	esv3337457
Chromosome Location	chr5:104084003-104087301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
2	chr5:104080992..104082950-chr5:104084605..104086219,2	K562	blood:

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140157953	chr5:104084605-104084606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs193269803	chr5:104084608-104084609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547630207	chr5:104084644-104084645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538162848	chr5:104084646-104084647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143912558	chr5:104084653-104084654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555783111	chr5:104084658-104084659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569399135	chr5:104084673-104084674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62361867	chr5:104084693-104084694	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62361868	chr5:104084698-104084699	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145885938	chr5:104084704-104084705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113080754	chr5:104084738-104084739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558421819	chr5:104084800-104084801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182393299	chr5:104084834-104084835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145143571	chr5:104084836-104084837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58583594	chr5:104084843-104084844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146326780	chr5:104084846-104084847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541880334	chr5:104084882-104084883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71588366	chr5:104084883-104084884	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529325578	chr5:104084903-104084904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543109130	chr5:104084915-104084916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559603558	chr5:104084930-104084931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527435412	chr5:104084937-104084938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187879291	chr5:104084962-104084963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570716093	chr5:104084968-104084969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533093729	chr5:104084979-104084980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77958317	chr5:104085001-104085002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569283338	chr5:104085002-104085003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531837050	chr5:104085006-104085007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151058377	chr5:104085030-104085031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192510815	chr5:104085033-104085034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10043901	chr5:104085034-104085035	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373148963	chr5:104085063-104085064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183950595	chr5:104085097-104085098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578244459	chr5:104085101-104085102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188680342	chr5:104085107-104085108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564352066	chr5:104085113-104085114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573382761	chr5:104085212-104085213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142450065	chr5:104085213-104085214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574044326	chr5:104085246-104085247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561890225	chr5:104085259-104085260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191994977	chr5:104085319-104085320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184408990	chr5:104085321-104085322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190240358	chr5:104085367-104085368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528619649	chr5:104085521-104085522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146318215	chr5:104085526-104085527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564157189	chr5:104085531-104085532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547962990	chr5:104085578-104085579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150404605	chr5:104085642-104085643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532983689	chr5:104085649-104085650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572303992	chr5:104085656-104085657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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