Variant report

Variant	nsv442371
Chromosome Location	chr15:42421415-42433806
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42429166..42430382-chr15:42677434..42678387,4	K562	blood:
2	chr15:42376241..42377224-chr15:42430049..42430612,3	K562	blood:
3	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
4	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
5	chr15:42430104..42432134-chr15:42441613..42443649,2	K562	blood:
6	chr15:42360949..42362087-chr15:42429641..42430534,4	MCF-7	breast:
7	chr15:42357824..42359039-chr15:42425603..42426626,4	MCF-7	breast:
8	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:
9	chr15:42376516..42377170-chr15:42429615..42430377,2	MCF-7	breast:
10	chr15:42279835..42282375-chr15:42428549..42430558,3	K562	blood:
11	chr15:42358651..42359363-chr15:42426255..42426773,2	K562	blood:
12	chr15:42358458..42359350-chr15:42425452..42426798,6	MCF-7	breast:
13	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
14	chr15:42360775..42361464-chr15:42423274..42423858,2	MCF-7	breast:
15	chr10:7154539..7155440-chr15:42426209..42426733,2	K562	blood:
16	chr15:42281454..42282334-chr15:42425835..42426353,2	K562	blood:
17	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
18	chr15:42386430..42387458-chr15:42425769..42426797,8	MCF-7	breast:
19	chr15:42386498..42387304-chr15:42425872..42426548,2	MCF-7	breast:
20	chr15:42430976..42436033-chr15:42436358..42441856,8	MCF-7	breast:
21	chr15:42426456..42429397-chr15:42449787..42451841,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168907	chromatin interactions
ENSG00000159337	chromatin interactions

Extended variants
information (count: 515 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560016325	chr15:42421435-42421436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528696028	chr15:42421443-42421444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551947958	chr15:42421450-42421451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375562603	chr15:42421454-42421455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555666753	chr15:42421513-42421514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565340690	chr15:42421524-42421525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76625409	chr15:42421605-42421606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550922018	chr15:42421606-42421607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142136300	chr15:42421634-42421635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535773191	chr15:42421691-42421692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138442012	chr15:42421718-42421719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199683140	chr15:42421719-42421720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386783445	chr15:42421721-42421722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548982031	chr15:42421723-42421724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202072031	chr15:42421725-42421726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137914597	chr15:42421727-42421728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565584676	chr15:42421804-42421805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150891338	chr15:42421816-42421817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557439282	chr15:42421901-42421902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577270995	chr15:42421946-42421947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188682095	chr15:42421950-42421951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556952417	chr15:42421975-42421976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs8040255	chr15:42421982-42421983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573922583	chr15:42421997-42421998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191430235	chr15:42422017-42422018	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553695281	chr15:42422028-42422029	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184099311	chr15:42422087-42422088	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188653767	chr15:42422089-42422090	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576933820	chr15:42422099-42422100	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192767164	chr15:42422102-42422103	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75655682	chr15:42422128-42422129	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183574383	chr15:42422174-42422175	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139082573	chr15:42422175-42422176	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577717155	chr15:42422177-42422178	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530037421	chr15:42422178-42422179	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149895132	chr15:42422254-42422255	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562962633	chr15:42422275-42422276	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144957406	chr15:42422408-42422409	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528271473	chr15:42422488-42422489	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551129050	chr15:42422509-42422510	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs16972704	chr15:42422571-42422572	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187163274	chr15:42422592-42422593	Weak transcription Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4924625	chr15:42422649-42422650	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567297031	chr15:42422666-42422667	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560357406	chr15:42422700-42422701	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527964802	chr15:42422701-42422702	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140246288	chr15:42422726-42422727	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561649511	chr15:42422731-42422732	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138805526	chr15:42422752-42422753	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553709103	chr15:42422755-42422756	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42419800-42429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42422000-42422600	Active TSS	GM12878-XiMat	blood
4	chr15:42422400-42423200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:42422400-42423400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr15:42422400-42426200	Enhancers	Fetal Thymus	thymus
7	chr15:42422600-42422800	Enhancers	GM12878-XiMat	blood
8	chr15:42423200-42425000	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:42423400-42425000	Enhancers	Fetal Muscle Leg	muscle
10	chr15:42423600-42424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:42423800-42424600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:42423800-42424600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:42423800-42424600	Enhancers	Brain Germinal Matrix	brain
14	chr15:42423800-42424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:42423800-42425200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:42424000-42424200	Bivalent Enhancer	HepG2	liver
17	chr15:42424000-42424400	Enhancers	Fetal Heart	heart
18	chr15:42424000-42424600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr15:42424000-42425000	Enhancers	Stomach Mucosa	stomach
20	chr15:42424200-42424400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:42424200-42424400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:42424200-42424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:42424200-42424600	Enhancers	Left Ventricle	heart
24	chr15:42424200-42424600	Enhancers	HepG2	liver
25	chr15:42424200-42424800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr15:42424200-42424800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:42424200-42424800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr15:42424200-42425000	Enhancers	Esophagus	oesophagus
29	chr15:42424600-42426200	Weak transcription	HepG2	liver
30	chr15:42424600-42427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:42424800-42429800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:42425000-42426200	Weak transcription	Stomach Mucosa	stomach
33	chr15:42425200-42435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:42426200-42426400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:42426200-42428200	Enhancers	HepG2	liver
36	chr15:42426400-42426800	Enhancers	Hela-S3	cervix
37	chr15:42426400-42427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:42426600-42427200	Enhancers	A549	lung
39	chr15:42426800-42427600	Weak transcription	Hela-S3	cervix
40	chr15:42427400-42428200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:42427800-42428000	Enhancers	Hela-S3	cervix
42	chr15:42428200-42429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:42428200-42429800	Weak transcription	HepG2	liver
44	chr15:42429600-42430600	Weak transcription	Stomach Mucosa	stomach
45	chr15:42429600-42430800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:42429800-42430000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr15:42429800-42430000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:42429800-42430000	Enhancers	Fetal Muscle Leg	muscle
49	chr15:42429800-42430200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:42429800-42430400	Enhancers	HUVEC	blood vessel

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