Variant report

Variant	nsv1048366
Chromosome Location	chr15:87557904-87586707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:87581817-87581917	GM12878	blood:	n/a	n/a
2	BRCA1	chr15:87581580-87582051	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr15:87558528-87558865	MCF-7	breast:	n/a	n/a
4	CEBPB	chr15:87559016-87559434	MCF-7	breast:	n/a	n/a
5	CEBPB	chr15:87558480-87559532	MCF-7	breast:	n/a	n/a
6	CEBPB	chr15:87559220-87559278	A549	lung:	n/a	n/a
7	CHD2	chr15:87581827-87581963	K562	blood:	n/a	n/a
8	CHD2	chr15:87581748-87582053	GM12878	blood:	n/a	n/a
9	CHD2	chr15:87581759-87581926	HepG2	liver:	n/a	n/a
10	CHD2	chr15:87581655-87582088	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:87576451-87576504	HepG2	liver:	n/a	chr15:87576458-87576471
12	CTCF	chr15:87576360-87576510	HPF	lung:	n/a	chr15:87576458-87576471
13	CTCF	chr15:87576412-87576526	SK-N-SH_RA	brain:	n/a	chr15:87576458-87576471
14	CTCF	chr15:87576340-87576490	Hela-S3	cervix:	n/a	chr15:87576458-87576471
15	CTCF	chr15:87576320-87576470	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr15:87585940-87586090	HAc	cerebellar:	n/a	n/a
17	CTCF	chr15:87585920-87586070	HEK293	kidney:	n/a	n/a
18	CTCF	chr15:87576460-87576610	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:87576420-87576570	HEK293	kidney:	n/a	chr15:87576458-87576471
20	CTCF	chr15:87585980-87586130	AG04450	lung:	n/a	n/a
21	CTCF	chr15:87586000-87586150	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr15:87576420-87576570	GM12871	blood:	n/a	chr15:87576458-87576471
23	CTCF	chr15:87576380-87576530	MCF-7	breast:	n/a	chr15:87576458-87576471
24	CTCF	chr15:87585950-87586164	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:87576380-87576530	HPAF	blood vessel:	n/a	chr15:87576458-87576471
26	CTCF	chr15:87576395-87576593	MCF-7	breast:	n/a	chr15:87576458-87576471
27	CTCF	chr15:87585920-87586070	AG04450	lung:	n/a	n/a
28	CTCF	chr15:87586000-87586150	AG04449	skin:	n/a	n/a
29	CTCF	chr15:87576400-87576550	HMEC	breast:	n/a	chr15:87576458-87576471
30	CTCF	chr15:87585951-87586193	MCF-7	breast:	n/a	n/a
31	CTCF	chr15:87576400-87576550	AoAF	blood vessel:	n/a	chr15:87576458-87576471
32	CTCF	chr15:87576440-87576590	HRE	kidney:	n/a	chr15:87576458-87576471
33	CTCF	chr15:87585700-87585850	NHEK	skin:	n/a	n/a
34	CTCF	chr15:87575560-87575710	BE2_C	brain:	n/a	n/a
35	CTCF	chr15:87585900-87586050	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr15:87576380-87576530	AoAF	blood vessel:	n/a	chr15:87576458-87576471
37	CTCF	chr15:87576400-87576550	BJ	skin:	n/a	chr15:87576458-87576471
38	CTCF	chr15:87576460-87576610	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr15:87576380-87576530	AG09319	gingival:	n/a	chr15:87576458-87576471
40	CTCF	chr15:87576320-87576470	NB4	blood:	n/a	n/a
41	CTCF	chr15:87576420-87576570	WERI-Rb-1	eye:	n/a	chr15:87576458-87576471
42	CTCF	chr15:87585940-87586090	HMEC	breast:	n/a	n/a
43	CTCF	chr15:87586000-87586150	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr15:87576466-87576542	ProgFib	skin:	n/a	n/a
45	CTCF	chr15:87576420-87576570	HCPEpiC	choroid plexus:	n/a	chr15:87576458-87576471
46	CTCF	chr15:87576500-87576650	AG04450	lung:	n/a	n/a
47	CTCF	chr15:87576380-87576530	RPTEC	kidney:	n/a	chr15:87576458-87576471
48	CTCF	chr15:87576420-87576570	HRPEpiC	eye:	n/a	chr15:87576458-87576471
49	CTCF	chr15:87576400-87576550	HRPEpiC	eye:	n/a	chr15:87576458-87576471
50	CTCF	chr15:87576400-87576550	HCPEpiC	choroid plexus:	n/a	chr15:87576458-87576471

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:87579937..87582914-chr15:88062293..88064888,2	MCF-7	breast:
2	chr15:87575965..87576999-chr15:88502091..88503093,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGBL1-1	chr15:87585285-87585428	ENSG00000259761.1

Variant related genes	Relation type
ENSG00000259761	TF binding region

Extended variants
information (count: 718 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539465496	chr15:87570620-87570621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566330527	chr15:87570640-87570641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75694170	chr15:87570641-87570642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8024660	chr15:87570663-87570664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555222914	chr15:87570673-87570674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573537189	chr15:87570709-87570710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561789019	chr15:87570718-87570719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200737046	chr15:87570721-87570722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202084819	chr15:87570723-87570724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199843975	chr15:87570725-87570726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142552121	chr15:87570764-87570765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553100547	chr15:87570768-87570769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187550950	chr15:87570770-87570771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79233109	chr15:87570785-87570786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145801696	chr15:87570812-87570813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149018480	chr15:87570844-87570845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543371175	chr15:87570889-87570890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189830032	chr15:87570905-87570906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143812207	chr15:87570911-87570912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114351735	chr15:87570929-87570930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569703807	chr15:87570985-87570986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547030220	chr15:87571029-87571030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115461574	chr15:87571030-87571031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546377666	chr15:87571031-87571032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559181492	chr15:87571049-87571050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182273566	chr15:87571071-87571072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555419523	chr15:87571077-87571078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532844383	chr15:87571083-87571084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551370281	chr15:87571087-87571088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376109520	chr15:87571117-87571118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569580995	chr15:87571132-87571133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574082323	chr15:87571156-87571157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12898787	chr15:87571180-87571181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28774368	chr15:87571181-87571182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567222326	chr15:87571183-87571184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12898798	chr15:87571201-87571202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1836083	chr15:87571228-87571229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552853755	chr15:87571242-87571243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529802544	chr15:87571251-87571252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578059887	chr15:87571252-87571253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199744802	chr15:87571266-87571267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200327312	chr15:87571267-87571268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67281503	chr15:87571268-87571269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397942689	chr15:87571272-87571273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562952965	chr15:87571279-87571280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138221965	chr15:87571285-87571286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116765561	chr15:87571287-87571288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575584060	chr15:87571289-87571290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112510065	chr15:87571290-87571291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543033295	chr15:87571307-87571308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87570600-87575000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:87574000-87574800	Enhancers	Fetal Lung	lung
3	chr15:87574000-87574800	Enhancers	HMEC	breast
4	chr15:87574200-87574600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:87574400-87574600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:87574400-87575000	Enhancers	NHEK	skin
7	chr15:87574400-87576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:87574600-87575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:87574600-87575600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:87574800-87575200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:87574800-87575200	Weak transcription	Fetal Lung	lung
12	chr15:87574800-87575600	Flanking Active TSS	HMEC	breast
13	chr15:87574800-87575800	Enhancers	Brain Substantia Nigra	brain
14	chr15:87575000-87575200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:87575000-87575400	Enhancers	Fetal Brain Male	brain
16	chr15:87575000-87575600	Flanking Active TSS	NHEK	skin
17	chr15:87575000-87575800	Enhancers	Brain Angular Gyrus	brain
18	chr15:87575000-87575800	Enhancers	Brain Hippocampus Middle	brain
19	chr15:87575000-87575800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:87575000-87575800	Enhancers	NH-A	brain
21	chr15:87575000-87576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr15:87575000-87576000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:87575000-87577000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:87575200-87575400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:87575200-87575600	Enhancers	Fetal Lung	lung
26	chr15:87575200-87575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:87575200-87575800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:87575200-87576000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:87575200-87576200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:87575400-87575600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:87575400-87576000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr15:87575600-87575800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:87575600-87576400	Enhancers	NHEK	skin
34	chr15:87575600-87577400	Enhancers	HMEC	breast
35	chr15:87575800-87576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:87575800-87577400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:87575800-87579000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:87576000-87579000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:87576000-87581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:87576200-87576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:87576400-87579400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:87576600-87577200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:87577000-87577200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr15:87577000-87579200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:87577200-87578800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:87577400-87579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:87577800-87581400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr15:87578800-87579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:87579000-87579400	Enhancers	Brain Substantia Nigra	brain
50	chr15:87579000-87579800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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