Variant report

Variant	nsv968868
Chromosome Location	chr5:5024532-5032779
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	ATF2	chr5:5026064-5026628	GM12878	blood:	n/a	n/a
2	BATF	chr5:5026111-5026335	GM12878	blood:	n/a	chr5:5026204-5026212
3	BATF	chr5:5025857-5026414	GM12878	blood:	n/a	chr5:5026204-5026212
4	BCL3	chr5:5026116-5026443	GM12878	blood:	n/a	chr5:5026249-5026258
5	BHLHE40	chr5:5026232-5026399	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:5024552-5024779	A549	lung:	n/a	chr5:5024686-5024697
7	CEBPB	chr5:5024651-5024667	K562	blood:	n/a	n/a
8	CEBPB	chr5:5024698-5024707	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:5024630-5024793	HepG2	liver:	n/a	chr5:5024686-5024697
10	CHD2	chr5:5031782-5032140	K562	blood:	n/a	n/a
11	CTCF	chr5:5028800-5028830	GM10266	blood:	n/a	n/a
12	CTCF	chr5:5025154-5025194	MCF-7	breast:	n/a	chr5:5025172-5025193 chr5:5025183-5025192
13	CTCF	chr5:5025080-5025230	MCF-7	breast:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
14	CTCF	chr5:5025130-5025228	Gliobla	brain:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
15	CTCF	chr5:5025187-5025211	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:5030918-5031008	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr5:5025200-5025350	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:5025136-5025177	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:5025129-5025222	MCF-7	breast:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
20	CTCF	chr5:5025100-5025250	SK-N-SH_RA	brain:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
21	CTCF	chr5:5025121-5025249	MCF-7	breast:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
22	CTCF	chr5:5025149-5025218	H1-hESC	embryonic stem cell:	n/a	chr5:5025172-5025193 chr5:5025177-5025195 chr5:5025183-5025192
23	ELF1	chr5:5026212-5026705	GM12878	blood:	n/a	n/a
24	FOS	chr5:5026191-5026335	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:5026197-5026391	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:5026099-5026397	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:5026099-5026299	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA1	chr5:5026122-5026383	T-47D	breast:	n/a	n/a
29	FOXA2	chr5:5026127-5026385	HepG2	liver:	n/a	n/a
30	FOXM1	chr5:5025798-5026733	GM12878	blood:	n/a	n/a
31	HCFC1	chr5:5025802-5026096	K562	blood:	n/a	n/a
32	IRF1	chr5:5025844-5026153	K562	blood:	n/a	chr5:5025978-5025999
33	IRF1	chr5:5025751-5026235	K562	blood:	n/a	chr5:5026194-5026203 chr5:5026146-5026155 chr5:5025978-5025999 chr5:5026204-5026211
34	IRF1	chr5:5025799-5026106	K562	blood:	n/a	chr5:5025978-5025999
35	IRF1	chr5:5025573-5026463	K562	blood:	n/a	chr5:5026194-5026203 chr5:5026146-5026155 chr5:5025978-5025999 chr5:5026204-5026211
36	IRF4	chr5:5025928-5026264	GM12878	blood:	n/a	chr5:5025978-5025999
37	MAX	chr5:5025819-5025826	HepG2	liver:	n/a	n/a
38	MAX	chr5:5025760-5026157	K562	blood:	n/a	n/a
39	MTA3	chr5:5026173-5026769	GM12878	blood:	n/a	n/a
40	MXI1	chr5:5025788-5026033	HepG2	liver:	n/a	n/a
41	MXI1	chr5:5025245-5026614	SK-N-SH	brain:	n/a	n/a
42	MYC	chr5:5025783-5025804	MCF-7	breast:	n/a	n/a
43	MYC	chr5:5025721-5025771	MCF-7	breast:	n/a	n/a
44	NFATC1	chr5:5026112-5026505	GM12878	blood:	n/a	n/a
45	NFIC	chr5:5025642-5027146	GM12878	blood:	n/a	n/a
46	NFYA	chr5:5025809-5026227	K562	blood:	n/a	chr5:5026145-5026155 chr5:5026145-5026155 chr5:5026194-5026206 chr5:5026146-5026158 chr5:5026144-5026157 chr5:5026142-5026157
47	NFYB	chr5:5025950-5026224	GM12878	blood:	n/a	chr5:5026145-5026155 chr5:5026145-5026155 chr5:5026194-5026206 chr5:5026146-5026158 chr5:5026144-5026157 chr5:5026142-5026157
48	NFYB	chr5:5025848-5026182	K562	blood:	n/a	chr5:5026145-5026155 chr5:5026145-5026155 chr5:5026146-5026158 chr5:5026144-5026157 chr5:5026142-5026157
49	PBX3	chr5:5026123-5026267	GM12878	blood:	n/a	chr5:5026145-5026154 chr5:5026197-5026217
50	PML	chr5:5025447-5026610	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:5025803-5025853	HIPEpiC	eye:	n/a
2	chr5:5025848-5025898	PFSK-1	brain:	n/a
3	chr5:5025912-5025962	HRCEpiC	kidney:	n/a
4	chr5:5025848-5025898	Jurkat	blood:	n/a
5	chr5:5025848-5025898	U87	brain:	n/a
6	chr5:5025912-5025962	MCF-7	breast:	n/a
7	chr5:5025912-5025962	HepG2	liver:	n/a
8	chr5:5025912-5025962	GM12891	blood:	n/a
9	chr5:5025912-5025962	A549	lung:	n/a
10	chr5:5025912-5025962	HPAEpiC	pulmonary alveolar:	n/a
11	chr5:5025912-5025962	GM06990	blood:	n/a
12	chr5:5025803-5025853	HEEpiC	esophagus:	n/a
13	chr5:5025912-5025962	NH-A	brain:	n/a
14	chr5:5025912-5025962	H1-hESC	embryonic stem cell:	embryo
15	chr5:5025912-5025962	SK-N-SH_RA	brain:	n/a
16	chr5:5025912-5025962	HRE	kidney:	n/a
17	chr5:5025803-5025853	HEK293	kidney:	embryo
18	chr5:5025803-5025853	ECC-1	luminal epithelium:	n/a
19	chr5:5025848-5025898	NHBE	bronchial:	n/a
20	chr5:5025848-5025898	BE2_C	brain:	n/a
21	chr5:5025912-5025962	HCPEpiC	choroid plexus:	n/a
22	chr5:5025848-5025898	HUVEC	blood vessel:	n/a
23	chr5:5025912-5025962	HMEC	breast:	n/a
24	chr5:5025848-5025898	SAEC	small airway:	n/a
25	chr5:5025848-5025898	GM12878	blood:	n/a
26	chr5:5025912-5025962	HCF	heart:	n/a
27	chr5:5025848-5025898	NHDF-neo	bronchial:	n/a
28	chr5:5025848-5025898	HCPEpiC	choroid plexus:	n/a
29	chr5:5025848-5025898	HRE	kidney:	n/a
30	chr5:5025803-5025853	HRCEpiC	kidney:	n/a
31	chr5:5025803-5025853	HL-60	blood:	n/a
32	chr5:5025803-5025853	SK-N-SH	brain:	n/a
33	chr5:5025912-5025962	CMK	blood:	n/a
34	chr5:5025848-5025898	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:5025848-5025898	HNPCEpiC	eye:	n/a
36	chr5:5025848-5025898	BJ	skin:	n/a
37	chr5:5025912-5025962	BE2_C	brain:	n/a
38	chr5:5025803-5025853	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:5025912-5025962	PFSK-1	brain:	n/a
40	chr5:5025912-5025962	Hela-S3	cervix:	n/a
41	chr5:5025848-5025898	HAEpiC	amniotic membrane:	n/a
42	chr5:5025848-5025898	SK-N-MC	brain:	n/a
43	chr5:5025848-5025898	GM12891	blood:	n/a
44	chr5:5025803-5025853	HNPCEpiC	eye:	n/a
45	chr5:5025803-5025853	Caco-2	colon:	n/a
46	chr5:5025848-5025898	H1-hESC	embryonic stem cell:	embryo
47	chr5:5025803-5025853	K562	blood:	n/a
48	chr5:5025848-5025898	SK-N-SH	brain:	n/a
49	chr5:5025803-5025853	HCM	heart:	n/a
50	chr5:5025803-5025853	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5021569..5024371-chr5:5031180..5034159,2	K562	blood:

Variant related genes	Relation type
LINC01020	TF binding region
LINC01020	CpG island

Extended variants
information (count: 167 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112384154	chr5:5024547-5024548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551261713	chr5:5024558-5024559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571435455	chr5:5024578-5024579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533830424	chr5:5024579-5024580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553679644	chr5:5024608-5024609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs465871	chr5:5024621-5024622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145385548	chr5:5024694-5024695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182859126	chr5:5024720-5024721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112140659	chr5:5024753-5024754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542095944	chr5:5024765-5024766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370960064	chr5:5024769-5024770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs459126	chr5:5024780-5024781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186283362	chr5:5024794-5024795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539139082	chr5:5024802-5024803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115483726	chr5:5024816-5024817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76881892	chr5:5024817-5024818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150613906	chr5:5024818-5024819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561607668	chr5:5024875-5024876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575221604	chr5:5024878-5024879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377618308	chr5:5024881-5024882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139667102	chr5:5024919-5024920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562489944	chr5:5024946-5024947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149800909	chr5:5024955-5024956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs457382	chr5:5024997-5024998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551491130	chr5:5025011-5025012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561091561	chr5:5025046-5025047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191008884	chr5:5025079-5025080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547197983	chr5:5025136-5025137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567175008	chr5:5025163-5025164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183529463	chr5:5025189-5025190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528474316	chr5:5025243-5025244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549728416	chr5:5025279-5025280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75536505	chr5:5025282-5025283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61540008	chr5:5025283-5025284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386402893	chr5:5025296-5025297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs460228	chr5:5025302-5025303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559055171	chr5:5025311-5025312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187538603	chr5:5025317-5025318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535188382	chr5:5025325-5025326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192618444	chr5:5025357-5025358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111793021	chr5:5025394-5025395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140676340	chr5:5025409-5025410	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs466185	chr5:5025411-5025412	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548132846	chr5:5025487-5025488	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144379171	chr5:5025553-5025554	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201036007	chr5:5025582-5025583	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs71578649	chr5:5025583-5025584	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76949930	chr5:5025584-5025585	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs1651740	chr5:5025587-5025588	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs59787350	chr5:5025588-5025589	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5023200-5025800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:5025400-5025600	Active TSS	HepG2	liver
3	chr5:5025400-5026000	ZNF genes & repeats	GM12878-XiMat	blood
4	chr5:5025400-5026200	Active TSS	Liver	Liver
5	chr5:5025400-5026200	Active TSS	Placenta	Placenta
6	chr5:5025400-5026400	Active TSS	K562	blood
7	chr5:5025600-5025800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:5025600-5026000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:5025600-5026000	Enhancers	Pancreas	Pancrea
10	chr5:5025600-5026000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr5:5025600-5026000	Flanking Active TSS	HepG2	liver
12	chr5:5025600-5026200	Active TSS	Hela-S3	cervix
13	chr5:5025600-5026400	Active TSS	A549	lung
14	chr5:5025600-5026600	Active TSS	HSMM	muscle
15	chr5:5025600-5026800	Flanking Active TSS	Dnd41	blood
16	chr5:5025600-5027000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:5025600-5027000	Enhancers	Spleen	Spleen
18	chr5:5025800-5026200	Active TSS	Adipose Nuclei	Adipose
19	chr5:5025800-5026400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:5025800-5026600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:5025800-5026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:5025800-5026800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:5026000-5026600	Active TSS	HepG2	liver
24	chr5:5026200-5026400	Flanking Active TSS	Hela-S3	cervix
25	chr5:5026200-5026600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:5026200-5026600	Enhancers	Placenta	Placenta
27	chr5:5026200-5026800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:5026400-5026600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:5026400-5026800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:5026400-5026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:5026400-5026800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr5:5026400-5026800	Active TSS	Hela-S3	cervix

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