Variant report

Variant	nsv1027171
Chromosome Location	chr5:59267959-59340525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:226 , 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	BATF	chr5:59314782-59315054	GM12878	blood:	n/a	n/a
2	BATF	chr5:59314853-59315076	GM12878	blood:	n/a	n/a
3	BATF	chr5:59315392-59315693	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:59282068-59282344	A549	lung:	n/a	n/a
5	CEBPB	chr5:59302281-59302443	Hela-S3	cervix:	n/a	chr5:59302341-59302354 chr5:59302341-59302354
6	CEBPB	chr5:59324251-59324399	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr5:59284268-59284645	A549	lung:	n/a	n/a
8	CEBPB	chr5:59284293-59284630	IMR90	lung:	n/a	n/a
9	CEBPB	chr5:59323093-59323416	A549	lung:	n/a	n/a
10	CEBPB	chr5:59321960-59322375	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:59323201-59323377	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr5:59306314-59306501	A549	lung:	n/a	n/a
13	CEBPB	chr5:59284337-59284545	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr5:59284334-59284565	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr5:59289131-59289353	A549	lung:	n/a	n/a
16	CEBPB	chr5:59302227-59302421	A549	lung:	n/a	chr5:59302341-59302354 chr5:59302341-59302354
17	CTCF	chr5:59306300-59306450	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr5:59306300-59306450	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr5:59306280-59306430	HEK293	kidney:	n/a	n/a
20	CTCF	chr5:59306260-59306410	GM12864	blood:	n/a	n/a
21	CTCF	chr5:59306220-59306370	GM12864	blood:	n/a	n/a
22	CTCF	chr5:59306140-59306350	AG04450	lung:	n/a	n/a
23	CTCF	chr5:59306400-59306550	RPTEC	kidney:	n/a	n/a
24	CTCF	chr5:59306220-59306370	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:59306305-59306403	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr5:59306321-59306420	Gliobla	brain:	n/a	n/a
27	CTCF	chr5:59306260-59306410	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr5:59306280-59306430	HCT-116	colon:	n/a	n/a
29	CTCF	chr5:59306260-59306410	AG10803	skin:	n/a	n/a
30	CTCF	chr5:59306160-59306310	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr5:59306340-59306490	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr5:59306320-59306470	GM12875	blood:	n/a	n/a
33	CTCF	chr5:59306200-59306350	GM12872	blood:	n/a	n/a
34	CTCF	chr5:59306260-59306410	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr5:59306380-59306530	HAc	cerebellar:	n/a	n/a
36	CTCF	chr5:59306240-59306390	GM06990	blood:	n/a	n/a
37	CTCF	chr5:59306280-59306430	GM06990	blood:	n/a	n/a
38	CTCF	chr5:59306280-59306430	AG04450	lung:	n/a	n/a
39	CTCF	chr5:59305940-59306090	GM12873	blood:	n/a	n/a
40	CTCF	chr5:59306000-59306150	HRE	kidney:	n/a	n/a
41	CTCF	chr5:59306240-59306390	GM12874	blood:	n/a	n/a
42	CTCF	chr5:59278100-59278250	GM12872	blood:	n/a	n/a
43	CTCF	chr5:59338260-59338410	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr5:59306300-59306450	A549	lung:	n/a	n/a
45	CTCF	chr5:59306220-59306370	HCFaa	heart:	n/a	n/a
46	CTCF	chr5:59306220-59306370	HMEC	breast:	n/a	n/a
47	CTCF	chr5:59306240-59306390	RPTEC	kidney:	n/a	n/a
48	CTCF	chr5:59306300-59306450	Caco-2	colon:	n/a	n/a
49	CTCF	chr5:59306280-59306430	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:59295080-59295230	GM12866	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59300196..59302637-chr5:59305644..59307317,2	K562	blood:
2	chr4:136403150..136403677-chr5:59327450..59328024,2	MCF-7	breast:
3	chr5:59278322..59278840-chr5:127773622..127774137,2	MCF-7	breast:
4	chr5:59300196..59302637-chr5:59305644..59307317,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC109486.1-2	chr5:59317593-59317673	ENSG00000248935.1
2	lnc-AC109486.1-2	chr5:59318370-59318546	ENSG00000248935.1
3	lnc-AC109486.1-2	chr5:59326675-59326799	ENSG00000248935.1
4	lnc-AC109486.1-2	chr5:59317076-59317157	ENSG00000248935.1
5	lnc-AC109486.1-2	chr5:59326713-59326807	ENSG00000248935.1
6	lnc-AC109486.1-2	chr5:59328604-59328847	ENSG00000248935.1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PDE4D	hsa-miR-335-5p	chr5:59284228-59284254
2	PDE4D	hsa-miR-7-5p	chr5:59282471-59282493
3	PDE4D	hsa-miR-19b-3p	chr5:59282572-59282593

Variant related genes	Relation type
ENSG00000248935	TF binding region
PDE4D	TF binding region

Extended variants
information (count: 2405 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570618242	chr5:59267992-59267993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145853670	chr5:59268001-59268002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538554866	chr5:59268044-59268045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115399697	chr5:59268050-59268051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566390268	chr5:59268057-59268058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535471960	chr5:59268115-59268116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116074620	chr5:59268134-59268135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185186471	chr5:59268168-59268169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538321563	chr5:59268169-59268170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3952631	chr5:59268178-59268179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563281954	chr5:59268182-59268183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538765309	chr5:59268207-59268208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540422862	chr5:59268211-59268212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189600219	chr5:59268246-59268247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574346279	chr5:59268319-59268320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537223460	chr5:59268335-59268336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541866292	chr5:59268343-59268344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561654893	chr5:59268357-59268358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182016396	chr5:59268444-59268445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544294141	chr5:59268460-59268461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574375083	chr5:59268557-59268558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563981022	chr5:59268588-59268589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115308238	chr5:59268611-59268612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535064940	chr5:59268645-59268646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553870372	chr5:59268675-59268676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546444603	chr5:59268761-59268762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187634043	chr5:59268762-59268763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370166715	chr5:59268779-59268780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76404802	chr5:59268795-59268796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548999579	chr5:59268949-59268950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568902665	chr5:59268977-59268978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538001602	chr5:59268985-59268986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191988007	chr5:59268995-59268996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571607155	chr5:59269011-59269012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574039338	chr5:59269014-59269015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554377126	chr5:59269061-59269062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574422302	chr5:59269068-59269069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138751405	chr5:59269098-59269099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555451556	chr5:59269104-59269105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575201755	chr5:59269112-59269113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543820669	chr5:59269113-59269114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564223931	chr5:59269245-59269246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17315537	chr5:59269302-59269303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs557549194	chr5:59269307-59269308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182715357	chr5:59269326-59269327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72530563	chr5:59269336-59269337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10694736	chr5:59269337-59269338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370178203	chr5:59269338-59269339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376168510	chr5:59269344-59269345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185941083	chr5:59269369-59269370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59206400-59278800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59260600-59278600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:59268000-59268200	Enhancers	Aorta	Aorta
4	chr5:59268200-59287800	Weak transcription	Aorta	Aorta
5	chr5:59271200-59271800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:59272400-59282400	Weak transcription	Primary B cells from cord blood	blood
7	chr5:59273400-59288600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:59277800-59278400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:59278600-59279200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:59278800-59279600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:59279200-59281800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:59279600-59280600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:59280400-59284200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:59280600-59283600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:59281800-59282200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr5:59282200-59284200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:59282400-59283400	Strong transcription	Primary B cells from cord blood	blood
18	chr5:59283400-59293600	Weak transcription	Primary B cells from cord blood	blood
19	chr5:59283600-59298600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:59284200-59284600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:59284200-59284800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:59284600-59288800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:59287800-59288000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:59287800-59288000	Enhancers	Aorta	Aorta
25	chr5:59288000-59296600	Weak transcription	Aorta	Aorta
26	chr5:59288200-59289000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:59288400-59291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:59288600-59289400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:59289000-59291600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:59289400-59291800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:59291400-59291600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:59291600-59293400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:59291600-59296800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:59291800-59296200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:59292000-59292200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:59292200-59294800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:59292800-59293600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:59292800-59293800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:59293000-59293200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:59293000-59293400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:59293000-59293400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:59293200-59293400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:59293200-59293400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:59293400-59294600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:59293400-59294600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:59293400-59296000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:59293600-59294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:59293600-59294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:59294600-59295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:59294800-59295200	Enhancers	HUES6 Cell Line	embryonic stem cell

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