Variant report

Variant	nsv964904
Chromosome Location	chr5:80538090-80539221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:80538032-80538387	GM12878	blood:	n/a	n/a
2	BATF	chr5:80538117-80538420	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:80538140-80538470	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:80538097-80538443	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:80538684-80538916	GM12878	blood:	n/a	n/a
6	CTCF	chr5:80539133-80539237	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:80539120-80539270	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr5:80539180-80539330	HCFaa	heart:	n/a	n/a
9	CTCF	chr5:80539155-80539243	K562	blood:	n/a	n/a
10	CTCF	chr5:80539180-80539330	AG04450	lung:	n/a	n/a
11	CTCF	chr5:80539137-80539228	IMR90	lung:	n/a	n/a
12	CTCF	chr5:80539020-80539170	BE2_C	brain:	n/a	n/a
13	CTCF	chr5:80539164-80539209	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:80539080-80539230	HCM	heart:	n/a	n/a
15	CTCF	chr5:80539060-80539210	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr5:80539100-80539250	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr5:80539083-80539278	K562	blood:	n/a	n/a
18	CTCF	chr5:80539140-80539290	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr5:80539080-80539230	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:80539120-80539270	BE2_C	brain:	n/a	n/a
21	CTCF	chr5:80539040-80539190	GM12864	blood:	n/a	n/a
22	CTCF	chr5:80539100-80539250	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr5:80539140-80539290	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:80539140-80539290	GM12872	blood:	n/a	n/a
25	CTCF	chr5:80539220-80539370	RPTEC	kidney:	n/a	n/a
26	EBF1	chr5:80538126-80539212	GM12878	blood:	n/a	chr5:80538965-80538976
27	EP300	chr5:80537866-80538451	GM12878	blood:	n/a	chr5:80538008-80538022 chr5:80538050-80538064
28	EP300	chr5:80538181-80538325	GM12878	blood:	n/a	n/a
29	IRF3	chr5:80538628-80538650	GM12878	blood:	n/a	chr5:80538631-80538644
30	IRF4	chr5:80538107-80538421	GM12878	blood:	n/a	n/a
31	MXI1	chr5:80538495-80538585	GM12878	blood:	n/a	n/a
32	NR3C1	chr5:80538810-80539250	A549	lung:	n/a	n/a
33	NR3C1	chr5:80538923-80539248	A549	lung:	n/a	n/a
34	POLR2A	chr5:80538382-80538442	K562	blood:	n/a	n/a
35	POLR2A	chr5:80538400-80538404	K562	blood:	n/a	n/a
36	POLR2A	chr5:80538803-80539447	K562	blood:	n/a	n/a
37	POU2F2	chr5:80538057-80538403	GM12878	blood:	n/a	n/a
38	STAT3	chr5:80538534-80538547	GM12878	blood:	n/a	n/a
39	WRNIP1	chr5:80538878-80539017	GM12878	blood:	n/a	n/a
40	ZBTB33	chr5:80538051-80538410	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80538494..80540112-chr5:80595834..80598511,2	MCF-7	breast:
2	chr5:80531823..80533359-chr5:80535137..80538128,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248794	TF binding region
ENSG00000247572	chromatin interactions
ENSG00000131732	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558607328	chr5:80538099-80538100	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553661977	chr5:80538122-80538123	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537651612	chr5:80538123-80538124	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531788188	chr5:80538127-80538128	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544018851	chr5:80538130-80538131	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2277037	chr5:80538143-80538144	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs78425933	chr5:80538248-80538249	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531065270	chr5:80538257-80538258	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529745844	chr5:80538278-80538279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181237658	chr5:80538286-80538287	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560186387	chr5:80538303-80538304	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529043606	chr5:80538339-80538340	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375006462	chr5:80538388-80538389	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532060229	chr5:80538448-80538449	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148197790	chr5:80538479-80538480	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs28650401	chr5:80538484-80538485	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185581701	chr5:80538510-80538511	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551216106	chr5:80538530-80538531	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs562669770	chr5:80538536-80538537	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs74701886	chr5:80538665-80538666	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188619825	chr5:80538703-80538704	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566952894	chr5:80538754-80538755	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538692901	chr5:80538846-80538847	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs558877984	chr5:80538938-80538939	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs180712986	chr5:80538982-80538983	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185106736	chr5:80538994-80538995	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs140228125	chr5:80539058-80539059	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs145379108	chr5:80539089-80539090	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs533002746	chr5:80539094-80539095	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs137935570	chr5:80539095-80539096	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575700323	chr5:80539101-80539102	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs11950033	chr5:80539141-80539142	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs192092351	chr5:80539150-80539151	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs115157201	chr5:80539169-80539170	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35813740	chr5:80539207-80539208	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562475042	chr5:80539208-80539209	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
3	chr5:80529400-80540800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:80529400-80541000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:80529400-80543400	Weak transcription	NHLF	lung
6	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:80529600-80541000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:80529600-80542800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:80530000-80546400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:80530200-80541600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:80530200-80544000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:80530600-80542800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:80530600-80543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:80530600-80543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:80530600-80544000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:80531000-80540200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:80531200-80538600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:80531200-80540000	Weak transcription	Aorta	Aorta
22	chr5:80531200-80542400	Weak transcription	Primary T cells from cord blood	blood
23	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
25	chr5:80531200-80564200	Weak transcription	HepG2	liver
26	chr5:80531400-80538200	Weak transcription	Pancreas	Pancrea
27	chr5:80531600-80542800	Weak transcription	Brain Germinal Matrix	brain
28	chr5:80531800-80538200	Weak transcription	HSMMtube	muscle
29	chr5:80531800-80541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:80531800-80543400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
32	chr5:80532000-80538800	Weak transcription	Gastric	stomach
33	chr5:80532000-80540800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:80532000-80541600	Weak transcription	Fetal Brain Female	brain
35	chr5:80532000-80542600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:80532000-80548400	Weak transcription	Lung	lung
37	chr5:80532200-80538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:80532200-80556800	Weak transcription	Dnd41	blood
41	chr5:80532400-80541800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:80532600-80545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:80534800-80542400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:80535400-80541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:80536000-80539200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:80536000-80541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:80536000-80541200	Enhancers	Fetal Heart	heart
48	chr5:80536000-80542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:80536200-80538200	Weak transcription	Brain Angular Gyrus	brain
50	chr5:80536200-80538400	Enhancers	Brain Anterior Caudate	brain

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