Variant report

Variant	esv3365150
Chromosome Location	chr5:53714245-53716293
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:53538357..53542067-chr5:53713056..53716360,3	MCF-7	breast:
2	chr5:53602823..53608938-chr5:53709150..53718175,28	MCF-7	breast:
3	chr5:53606800..53607790-chr5:53715177..53715976,2	MCF-7	breast:
4	chr5:53538281..53541214-chr5:53714067..53715639,2	K562	blood:
5	chr5:53539131..53540134-chr5:53715293..53716123,3	MCF-7	breast:
6	chr5:53675385..53676391-chr5:53715218..53716067,3	MCF-7	breast:
7	chr5:53609922..53612070-chr5:53713944..53716138,2	K562	blood:
8	chr5:53604517..53608488-chr5:53715576..53720642,6	K562	blood:
9	chr5:53549984..53550567-chr5:53715211..53716004,3	MCF-7	breast:
10	chr5:53711387..53714618-chr5:53715835..53718842,3	K562	blood:
11	chr5:53655301..53657989-chr5:53712395..53714318,2	MCF-7	breast:
12	chr5:53602939..53610771-chr5:53710247..53722415,26	MCF-7	breast:
13	chr5:53539202..53540014-chr5:53714954..53715751,2	K562	blood:
14	chr5:53607342..53608243-chr5:53715631..53716176,2	MCF-7	breast:
15	chr5:53709661..53711663-chr5:53712680..53714980,2	K562	blood:
16	chr5:53711387..53714618-chr5:53715835..53718842,3	K562	blood:
17	chr5:53605299..53609778-chr5:53707144..53716404,12	K562	blood:
18	chr5:53548094..53550285-chr5:53713089..53714844,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185305	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7700379	chr5:53714259-53714260	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559076599	chr5:53714300-53714301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11386102	chr5:53714308-53714309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545019463	chr5:53714309-53714310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397883570	chr5:53714311-53714312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7734216	chr5:53714319-53714320	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527322022	chr5:53714346-53714347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7714673	chr5:53714354-53714355	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7734348	chr5:53714367-53714368	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548972136	chr5:53714368-53714369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142535021	chr5:53714436-53714437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79232293	chr5:53714463-53714464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200698331	chr5:53714467-53714468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7714936	chr5:53714468-53714469	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35065507	chr5:53714469-53714470	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7700729	chr5:53714483-53714484	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191349819	chr5:53714487-53714488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79474544	chr5:53714524-53714525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138505097	chr5:53714563-53714564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555025998	chr5:53714565-53714566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116794302	chr5:53714572-53714573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7734675	chr5:53714625-53714626	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115418762	chr5:53714635-53714636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141581368	chr5:53714707-53714708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78526608	chr5:53714715-53714716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560153181	chr5:53714742-53714743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150742999	chr5:53714758-53714759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527600651	chr5:53714768-53714769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183689506	chr5:53714771-53714772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560557944	chr5:53714778-53714779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138001644	chr5:53714791-53714792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549659459	chr5:53714808-53714809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569227614	chr5:53714822-53714823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571792961	chr5:53714835-53714836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186860893	chr5:53714890-53714891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114628307	chr5:53714959-53714960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149609625	chr5:53714969-53714970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191619360	chr5:53714970-53714971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554965123	chr5:53715018-53715019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571230051	chr5:53715019-53715020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144324501	chr5:53715034-53715035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537519615	chr5:53715039-53715040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184952215	chr5:53715057-53715058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558815434	chr5:53715060-53715061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190193639	chr5:53715066-53715067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375281163	chr5:53715079-53715080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10672153	chr5:53715090-53715091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201688098	chr5:53715093-53715094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112057706	chr5:53715095-53715096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373556058	chr5:53715099-53715100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53709000-53724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:53712000-53715400	Weak transcription	K562	blood
3	chr5:53712600-53715400	Weak transcription	Osteobl	bone
4	chr5:53714200-53715400	Weak transcription	HMEC	breast
5	chr5:53715400-53715600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:53715400-53715600	Enhancers	HMEC	breast
7	chr5:53715400-53715600	Enhancers	Osteobl	bone
8	chr5:53715400-53716000	Enhancers	Liver	Liver
9	chr5:53715400-53716000	Enhancers	Fetal Heart	heart
10	chr5:53715400-53716000	Genic enhancers	K562	blood
11	chr5:53716000-53717800	Weak transcription	K562	blood
12	chr5:53716000-53720600	Weak transcription	Fetal Heart	heart

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