Variant report

Variant	nsv569237
Chromosome Location	chr15:42418085-42437431
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42358651..42359363-chr15:42426255..42426773,2	K562	blood:
2	chr15:42357824..42359039-chr15:42425603..42426626,4	MCF-7	breast:
3	chr15:42376241..42377224-chr15:42430049..42430612,3	K562	blood:
4	chr15:42434956..42437486-chr15:42447741..42449985,2	K562	blood:
5	chr15:42360949..42362087-chr15:42429641..42430534,4	MCF-7	breast:
6	chr15:42386430..42387458-chr15:42425769..42426797,8	MCF-7	breast:
7	chr15:42430976..42436033-chr15:42436358..42441856,8	MCF-7	breast:
8	chr15:42281454..42282334-chr15:42425835..42426353,2	K562	blood:
9	chr15:42386498..42387304-chr15:42425872..42426548,2	MCF-7	breast:
10	chr15:42407343..42409321-chr15:42417002..42418957,2	K562	blood:
11	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
12	chr15:42279835..42282375-chr15:42428549..42430558,3	K562	blood:
13	chr15:42376516..42377170-chr15:42429615..42430377,2	MCF-7	breast:
14	chr15:42426456..42429397-chr15:42449787..42451841,2	MCF-7	breast:
15	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
16	chr10:7154539..7155440-chr15:42426209..42426733,2	K562	blood:
17	chr15:42434324..42436456-chr15:42448485..42450694,2	K562	blood:
18	chr15:42360775..42361464-chr15:42423274..42423858,2	MCF-7	breast:
19	chr15:42429166..42430382-chr15:42677434..42678387,4	K562	blood:
20	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:
21	chr15:42434292..42437430-chr15:42439714..42441557,3	MCF-7	breast:
22	chr15:42430104..42432134-chr15:42441613..42443649,2	K562	blood:
23	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
24	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
25	chr15:42358458..42359350-chr15:42425452..42426798,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168907	chromatin interactions
ENSG00000159337	chromatin interactions

Extended variants
information (count: 885 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs582881	chr15:42418085-42418086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150939279	chr15:42418117-42418118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77544818	chr15:42418123-42418124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552343825	chr15:42418323-42418324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562530856	chr15:42418341-42418342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs641601	chr15:42418345-42418346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547851329	chr15:42418366-42418367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187891513	chr15:42418383-42418384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534260047	chr15:42418386-42418387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547663318	chr15:42418411-42418412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570758863	chr15:42418468-42418469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539635302	chr15:42418499-42418500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77892068	chr15:42418504-42418505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34972163	chr15:42418531-42418532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140721714	chr15:42418618-42418619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114790742	chr15:42418630-42418631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572386118	chr15:42418635-42418636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540560082	chr15:42418760-42418761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113047538	chr15:42418795-42418796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537274918	chr15:42418814-42418815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545976684	chr15:42418830-42418831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562596068	chr15:42418859-42418860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531276964	chr15:42418883-42418884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192183054	chr15:42418885-42418886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561558558	chr15:42418889-42418890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527277198	chr15:42419009-42419010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547726066	chr15:42419011-42419012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570768473	chr15:42419020-42419021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58555641	chr15:42419109-42419110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184062719	chr15:42419116-42419117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532354566	chr15:42419142-42419143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533312714	chr15:42419177-42419178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369007233	chr15:42419196-42419197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138931127	chr15:42419253-42419254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570150183	chr15:42419293-42419294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373063887	chr15:42419294-42419295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535607081	chr15:42419381-42419382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs612946	chr15:42419410-42419411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369408420	chr15:42419430-42419431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374232211	chr15:42419433-42419434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377210854	chr15:42419482-42419483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534977138	chr15:42419511-42419512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369984075	chr15:42419521-42419522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552394450	chr15:42419556-42419557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554113324	chr15:42419557-42419558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577183022	chr15:42419611-42419612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546036313	chr15:42419637-42419638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112487745	chr15:42419666-42419667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35252802	chr15:42419673-42419674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528027796	chr15:42419681-42419682	Enhancers Weak transcription	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42415800-42419600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:42419600-42419800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42419600-42420000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr15:42419800-42429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:42422000-42422600	Active TSS	GM12878-XiMat	blood
7	chr15:42422400-42423200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:42422400-42423400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr15:42422400-42426200	Enhancers	Fetal Thymus	thymus
10	chr15:42422600-42422800	Enhancers	GM12878-XiMat	blood
11	chr15:42423200-42425000	Enhancers	Fetal Muscle Trunk	muscle
12	chr15:42423400-42425000	Enhancers	Fetal Muscle Leg	muscle
13	chr15:42423600-42424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:42423800-42424600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:42423800-42424600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:42423800-42424600	Enhancers	Brain Germinal Matrix	brain
17	chr15:42423800-42424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:42423800-42425200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:42424000-42424200	Bivalent Enhancer	HepG2	liver
20	chr15:42424000-42424400	Enhancers	Fetal Heart	heart
21	chr15:42424000-42424600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr15:42424000-42425000	Enhancers	Stomach Mucosa	stomach
23	chr15:42424200-42424400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:42424200-42424400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:42424200-42424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr15:42424200-42424600	Enhancers	Left Ventricle	heart
27	chr15:42424200-42424600	Enhancers	HepG2	liver
28	chr15:42424200-42424800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:42424200-42424800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:42424200-42424800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr15:42424200-42425000	Enhancers	Esophagus	oesophagus
32	chr15:42424600-42426200	Weak transcription	HepG2	liver
33	chr15:42424600-42427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:42424800-42429800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:42425000-42426200	Weak transcription	Stomach Mucosa	stomach
36	chr15:42425200-42435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:42426200-42426400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:42426200-42428200	Enhancers	HepG2	liver
39	chr15:42426400-42426800	Enhancers	Hela-S3	cervix
40	chr15:42426400-42427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:42426600-42427200	Enhancers	A549	lung
42	chr15:42426800-42427600	Weak transcription	Hela-S3	cervix
43	chr15:42427400-42428200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:42427800-42428000	Enhancers	Hela-S3	cervix
45	chr15:42428200-42429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:42428200-42429800	Weak transcription	HepG2	liver
47	chr15:42429600-42430600	Weak transcription	Stomach Mucosa	stomach
48	chr15:42429600-42430800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:42429800-42430000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr15:42429800-42430000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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