Variant report

Variant	nsv974562
Chromosome Location	chr15:40417227-40427352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40396612..40398136-chr15:40423980..40425844,2	K562	blood:
2	chr15:40389070..40391081-chr15:40419316..40421072,2	K562	blood:
3	chr15:40423124..40425673-chr15:40427954..40430256,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58216655	chr15:40417236-40417237	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537174349	chr15:40417311-40417312	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs58902242	chr15:40417337-40417338	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2447227	chr15:40417399-40417400	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs486944	chr15:40417427-40417428	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185274348	chr15:40417466-40417467	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150862082	chr15:40417478-40417479	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139305734	chr15:40417488-40417489	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190427735	chr15:40417532-40417533	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182595276	chr15:40417543-40417544	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577218190	chr15:40417549-40417550	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113216726	chr15:40417551-40417552	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369201711	chr15:40417583-40417584	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572255009	chr15:40417614-40417615	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376458289	chr15:40417628-40417629	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188793113	chr15:40417636-40417637	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547373983	chr15:40417646-40417647	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141011388	chr15:40417673-40417674	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371297084	chr15:40417675-40417676	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368016494	chr15:40417679-40417680	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397770978	chr15:40417681-40417682	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553515738	chr15:40417682-40417683	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57599926	chr15:40417686-40417687	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149997567	chr15:40417687-40417688	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550026811	chr15:40417688-40417689	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191432934	chr15:40417693-40417694	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529408250	chr15:40417711-40417712	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549319195	chr15:40417712-40417713	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565944129	chr15:40417753-40417754	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535299483	chr15:40417755-40417756	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551673746	chr15:40417769-40417770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184121406	chr15:40417773-40417774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59793325	chr15:40417793-40417794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557181244	chr15:40417813-40417814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576080560	chr15:40417855-40417856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73392641	chr15:40417864-40417865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543304502	chr15:40417866-40417867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555311939	chr15:40417872-40417873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376704993	chr15:40417898-40417899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144343850	chr15:40417917-40417918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563282064	chr15:40417998-40417999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112630037	chr15:40418000-40418001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371050530	chr15:40418020-40418021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113336480	chr15:40418025-40418026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80249577	chr15:40418039-40418040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188581298	chr15:40418076-40418077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565741205	chr15:40418087-40418088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549232913	chr15:40418092-40418093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559665734	chr15:40418111-40418112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528461477	chr15:40418140-40418141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40402000-40418600	Weak transcription	Right Atrium	heart
2	chr15:40415200-40418000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr15:40416400-40417800	Enhancers	Placenta	Placenta
4	chr15:40416400-40418600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:40416600-40417800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40416600-40417800	Enhancers	NHEK	skin
7	chr15:40416600-40418000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:40416600-40418000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:40416600-40418000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40416600-40418600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr15:40416600-40418800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40416800-40417600	Enhancers	HMEC	breast
13	chr15:40416800-40417800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr15:40417000-40417400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:40417000-40417400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:40417000-40417600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:40417000-40417800	Enhancers	Pancreas	Pancrea
18	chr15:40417000-40418000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:40417200-40417400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:40417200-40417400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:40417200-40417600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:40417200-40417600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:40417400-40417600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:40417400-40417600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr15:40417400-40417600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr15:40417600-40417800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:40417600-40418000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:40417600-40418000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr15:40417600-40418000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:40417600-40418000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:40417600-40418000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr15:40417800-40418600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:40418400-40418600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr15:40418600-40418800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr15:40418600-40419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:40419400-40419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:40421200-40421400	Bivalent Enhancer	K562	blood
38	chr15:40427000-40429600	Enhancers	HSMMtube	muscle
39	chr15:40427200-40427400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr15:40427200-40427600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr15:40427200-40429200	Enhancers	HSMM	muscle

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