Variant report

Variant	nsv528383
Chromosome Location	chr15:56309541-56318384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56309924..56310815-chr15:56344688..56345628,4	MCF-7	breast:
2	chr15:56308090..56310952-chr15:56323916..56326374,2	MCF-7	breast:
3	chr15:56304158..56307081-chr15:56310322..56313297,2	K562	blood:
4	chr15:56309948..56310461-chr15:56538175..56538871,2	MCF-7	breast:
5	chr15:56285343..56287953-chr15:56307893..56310459,2	MCF-7	breast:
6	chr15:56299007..56301700-chr15:56309609..56311858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230183	chromatin interactions
ENSG00000069869	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs949551	chr15:56309541-56309542	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554876985	chr15:56309585-56309586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61449136	chr15:56309600-56309601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370262600	chr15:56309605-56309606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563188436	chr15:56309606-56309607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576878833	chr15:56309631-56309632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376132056	chr15:56309653-56309654	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545643101	chr15:56309696-56309697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559606433	chr15:56309707-56309708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150344021	chr15:56309715-56309716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9652429	chr15:56309722-56309723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs568226619	chr15:56309740-56309741	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530637723	chr15:56309811-56309812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138052499	chr15:56309815-56309816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149534045	chr15:56309832-56309833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs80298125	chr15:56309835-56309836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146044453	chr15:56309844-56309845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539145366	chr15:56309854-56309855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552281989	chr15:56309859-56309860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79691067	chr15:56309878-56309879	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534927352	chr15:56309912-56309913	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554838213	chr15:56309923-56309924	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs116733640	chr15:56309932-56309933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536601055	chr15:56309994-56309995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79696971	chr15:56310028-56310029	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186835290	chr15:56310043-56310044	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545889236	chr15:56310064-56310065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559534144	chr15:56310065-56310066	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140000673	chr15:56310085-56310086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371017802	chr15:56310102-56310103	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375796949	chr15:56310113-56310114	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191252571	chr15:56310175-56310176	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141966822	chr15:56310176-56310177	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530851580	chr15:56310225-56310226	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556538279	chr15:56310243-56310244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553420700	chr15:56310292-56310293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs140787149	chr15:56310295-56310296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543425503	chr15:56310303-56310304	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76193307	chr15:56310318-56310319	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532435097	chr15:56310329-56310330	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148540327	chr15:56310339-56310340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs367740309	chr15:56310388-56310389	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs80012909	chr15:56310448-56310449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528614327	chr15:56310479-56310480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189628382	chr15:56310539-56310540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568623610	chr15:56310541-56310542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60050804	chr15:56310547-56310548	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74369188	chr15:56310591-56310592	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143618970	chr15:56310592-56310593	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74712203	chr15:56310593-56310594	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56309600-56310000	Enhancers	HepG2	liver
2	chr15:56309600-56312200	Enhancers	NHEK	skin
3	chr15:56309600-56327200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:56309800-56312200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:56309800-56312200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:56310000-56310400	Enhancers	HMEC	breast
7	chr15:56310000-56310400	Enhancers	K562	blood
8	chr15:56310000-56310600	Flanking Active TSS	HepG2	liver
9	chr15:56310000-56311000	Enhancers	A549	lung
10	chr15:56310000-56311400	Enhancers	Hela-S3	cervix
11	chr15:56310000-56311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:56310400-56311400	Weak transcription	HMEC	breast
13	chr15:56310400-56311400	Weak transcription	K562	blood
14	chr15:56310600-56311400	Enhancers	HepG2	liver
15	chr15:56311000-56311200	Flanking Active TSS	A549	lung
16	chr15:56311200-56312400	Active TSS	A549	lung
17	chr15:56311400-56311600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:56311400-56311600	Enhancers	HMEC	breast
19	chr15:56311400-56311600	Enhancers	K562	blood
20	chr15:56311400-56311800	Active TSS	Hela-S3	cervix
21	chr15:56311400-56311800	Flanking Active TSS	HepG2	liver
22	chr15:56311400-56311800	Enhancers	NH-A	brain
23	chr15:56311400-56313600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:56311600-56312000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr15:56311800-56312200	Flanking Active TSS	Hela-S3	cervix
26	chr15:56311800-56315600	Weak transcription	HepG2	liver
27	chr15:56312200-56313200	Active TSS	Hela-S3	cervix
28	chr15:56312200-56320600	Weak transcription	NHEK	skin
29	chr15:56313200-56313400	Enhancers	Hela-S3	cervix
30	chr15:56313400-56314000	Active TSS	Hela-S3	cervix
31	chr15:56314000-56314600	Flanking Active TSS	Hela-S3	cervix
32	chr15:56314600-56314800	Enhancers	Hela-S3	cervix
33	chr15:56314800-56320000	Weak transcription	Hela-S3	cervix
34	chr15:56315600-56316000	Enhancers	HepG2	liver

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