Variant report

Variant	nsv904295
Chromosome Location	chr15:62198564-62259637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:62199453-62200154	HepG2	liver:	n/a	n/a
2	BACH1	chr15:62234203-62234206	K562	blood:	n/a	n/a
3	BCL3	chr15:62255882-62256211	GM12878	blood:	n/a	n/a
4	CEBPB	chr15:62227818-62228070	A549	lung:	n/a	chr15:62227893-62227904
5	CEBPB	chr15:62199668-62200070	HepG2	liver:	n/a	n/a
6	CEBPB	chr15:62225483-62225689	K562	blood:	n/a	chr15:62225584-62225597 chr15:62225586-62225597 chr15:62225531-62225544 chr15:62225584-62225597 chr15:62225584-62225597 chr15:62225586-62225597
7	CEBPB	chr15:62232985-62233209	HepG2	liver:	n/a	n/a
8	CEBPB	chr15:62227701-62228189	K562	blood:	n/a	chr15:62227893-62227904
9	CEBPB	chr15:62227747-62228056	Hela-S3	cervix:	n/a	chr15:62227893-62227904
10	CEBPB	chr15:62239060-62239292	IMR90	lung:	n/a	n/a
11	CHD2	chr15:62221823-62221825	GM12878	blood:	n/a	n/a
12	CTCF	chr15:62208380-62208530	AG10803	skin:	n/a	n/a
13	CTCF	chr15:62208360-62208510	AG10803	skin:	n/a	n/a
14	CTCF	chr15:62208380-62208530	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr15:62208320-62208470	AG04449	skin:	n/a	n/a
16	CTCF	chr15:62208340-62208490	AG04449	skin:	n/a	n/a
17	CTCF	chr15:62201440-62201505	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:62201413-62201513	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:62240716-62240764	GM20000	blood:	n/a	n/a
20	CTCF	chr15:62208280-62208430	BE2_C	brain:	n/a	n/a
21	CTCF	chr15:62201490-62201536	GM20000	blood:	n/a	n/a
22	CTCF	chr15:62208340-62208490	HMF	breast:	n/a	n/a
23	CTCF	chr15:62201462-62201522	MCF-7	breast:	n/a	n/a
24	CTCF	chr15:62201380-62201530	HepG2	liver:	n/a	n/a
25	CTCF	chr15:62208340-62208490	HAc	cerebellar:	n/a	n/a
26	CTCF	chr15:62208300-62208450	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr15:62201420-62201570	GM12871	blood:	n/a	n/a
28	CTCF	chr15:62201438-62201496	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:62201360-62201510	A549	lung:	n/a	n/a
30	CTCF	chr15:62208360-62208510	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr15:62208360-62208510	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr15:62208400-62208550	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr15:62201451-62201513	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr15:62208360-62208510	BJ	skin:	n/a	n/a
35	CTCF	chr15:62208300-62208450	BE2_C	brain:	n/a	n/a
36	CTCF	chr15:62208280-62208430	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr15:62208320-62208470	BJ	skin:	n/a	n/a
38	E2F4	chr15:62238951-62239488	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr15:62227748-62228018	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr15:62228966-62229351	SK-N-SH_RA	brain:	n/a	chr15:62229110-62229120
41	EP300	chr15:62207894-62208181	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr15:62199676-62200056	HepG2	liver:	n/a	chr15:62199898-62199907
43	EP300	chr15:62208306-62208691	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr15:62229089-62229302	SK-N-SH_RA	brain:	n/a	chr15:62229110-62229120
45	EP300	chr15:62199660-62199998	HepG2	liver:	n/a	chr15:62199898-62199907
46	EP300	chr15:62207453-62208947	SK-N-SH	brain:	n/a	n/a
47	EP300	chr15:62208326-62208685	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr15:62228760-62229719	SK-N-SH	brain:	n/a	chr15:62229110-62229120
49	EP300	chr15:62229165-62229278	K562	blood:	n/a	n/a
50	EP300	chr15:62199363-62199416	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:62157514..62159480-chr15:62215874..62217523,2	K562	blood:
2	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
3	chr15:62252284..62254348-chr15:62257141..62258725,2	K562	blood:
4	chr15:62236123..62237658-chr15:62241444..62244261,2	K562	blood:
5	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
6	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
7	chr15:62249551..62252071-chr15:62252647..62254754,2	MCF-7	breast:
8	chr11:22957855..22958444-chr15:62239142..62239729,2	MCF-7	breast:
9	chr15:62195135..62197262-chr15:62198825..62201096,2	MCF-7	breast:
10	chr15:62204266..62207135-chr15:62210768..62213468,2	MCF-7	breast:
11	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
12	chr15:62223179..62225292-chr15:62226281..62228642,2	K562	blood:
13	chr15:62205557..62210722-chr15:62211814..62216434,5	K562	blood:
14	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
15	chr15:62235589..62237658-chr15:62241156..62242944,2	K562	blood:
16	chr15:62248426..62250802-chr15:62259693..62261364,2	K562	blood:
17	chr15:62213296..62215607-chr15:62227904..62230544,2	K562	blood:
18	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
19	chr15:62222450..62224583-chr15:62247796..62249719,2	MCF-7	breast:
20	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:
21	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:
22	chr15:62242750..62243662-chr5:173738637..173739199,2	MCF-7	breast:
23	chr15:62241235..62242799-chr15:62250211..62252735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2CD4A-10	chr15:62206624-62206875	NONHSAT044263

No data

Variant related genes	Relation type
VPS13C	TF binding region
RN7SL613P	TF binding region
ENSG00000129003	chromatin interactions
ENSG00000264376	chromatin interactions

Extended variants
information (count: 2571 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2571 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11631970	chr15:62198564-62198565	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530026884	chr15:62198579-62198580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141281769	chr15:62198588-62198589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561265072	chr15:62198600-62198601	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374616819	chr15:62198648-62198649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528525089	chr15:62198654-62198655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145047382	chr15:62198694-62198695	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138829312	chr15:62198696-62198697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532715230	chr15:62198699-62198700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539599759	chr15:62198780-62198781	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550899917	chr15:62198782-62198783	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569145299	chr15:62198826-62198827	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547182810	chr15:62198846-62198847	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183220880	chr15:62198887-62198888	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566788666	chr15:62198900-62198901	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149349934	chr15:62198955-62198956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143841098	chr15:62198993-62198994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535766625	chr15:62199008-62199009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148156092	chr15:62199023-62199024	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141947139	chr15:62199036-62199037	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28593056	chr15:62199095-62199096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188496041	chr15:62199100-62199101	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544355759	chr15:62199123-62199124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556383592	chr15:62199124-62199125	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78334630	chr15:62199146-62199147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192260718	chr15:62199203-62199204	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111477192	chr15:62199233-62199234	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182922022	chr15:62199245-62199246	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190170589	chr15:62199248-62199249	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528453833	chr15:62199278-62199279	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540292733	chr15:62199304-62199305	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565336138	chr15:62199321-62199322	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28413840	chr15:62199342-62199343	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551097744	chr15:62199357-62199358	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147291375	chr15:62199411-62199412	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552530424	chr15:62199414-62199415	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530263048	chr15:62199421-62199422	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548438108	chr15:62199422-62199423	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112914036	chr15:62199449-62199450	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566844130	chr15:62199455-62199456	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200449323	chr15:62199457-62199458	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114861330	chr15:62199479-62199480	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116802310	chr15:62199488-62199489	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371763994	chr15:62199533-62199534	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187934201	chr15:62199534-62199535	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372272525	chr15:62199552-62199553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201446031	chr15:62199572-62199573	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9920256	chr15:62199580-62199581	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141989364	chr15:62199587-62199588	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146300915	chr15:62199588-62199589	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	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
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
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
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
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
2	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
3	chr15:62142600-62209200	Weak transcription	K562	blood
4	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
5	chr15:62146800-62230000	Weak transcription	Pancreas	Pancrea
6	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
7	chr15:62181800-62198800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:62185000-62199600	Weak transcription	Stomach Mucosa	stomach
10	chr15:62185000-62221000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:62185600-62207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:62185600-62207200	Weak transcription	Hela-S3	cervix
13	chr15:62185600-62208000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:62185600-62208000	Weak transcription	Aorta	Aorta
15	chr15:62185600-62209200	Weak transcription	NHLF	lung
16	chr15:62185600-62262200	Weak transcription	Gastric	stomach
17	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
18	chr15:62185800-62198800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:62186000-62199400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:62186000-62208000	Weak transcription	Fetal Heart	heart
22	chr15:62186400-62201200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:62187200-62246000	Weak transcription	A549	lung
24	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:62193200-62207200	Weak transcription	HMEC	breast
26	chr15:62193800-62208200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:62194000-62202000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr15:62194600-62199400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:62194600-62201800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:62194600-62207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:62194600-62210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:62194600-62235400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:62194800-62207200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:62194800-62225600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:62195000-62204400	Strong transcription	Dnd41	blood
37	chr15:62195000-62215000	Strong transcription	Adipose Nuclei	Adipose
38	chr15:62195000-62219800	Strong transcription	Primary B cells from cord blood	blood
39	chr15:62195200-62201000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:62195200-62203800	Strong transcription	Placenta	Placenta
41	chr15:62195200-62217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:62195400-62198800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:62195400-62202200	Strong transcription	Fetal Intestine Large	intestine
44	chr15:62195400-62206000	Weak transcription	Ovary	ovary
45	chr15:62195400-62206400	Weak transcription	Fetal Stomach	stomach
46	chr15:62195400-62215200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:62195400-62234200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr15:62195400-62235800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:62195600-62199400	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:62195600-62201200	Weak transcription	Lung	lung

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