Variant report

Variant	nsv528714
Chromosome Location	chr5:95910465-95921529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:95918085-95918327	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr5:95918098-95918394	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:95915282-95915321	MCF-7	breast:	n/a	n/a
4	FOS	chr5:95918004-95918328	MCF10A-Er-Src	breast:	n/a	chr5:95918147-95918157
5	FOS	chr5:95918104-95918308	MCF10A-Er-Src	breast:	n/a	chr5:95918147-95918157
6	FOS	chr5:95918038-95918336	HUVEC	blood vessel:	n/a	chr5:95918147-95918157
7	FOS	chr5:95914222-95914591	HUVEC	blood vessel:	n/a	chr5:95914390-95914401
8	FOS	chr5:95918106-95918306	MCF10A-Er-Src	breast:	n/a	chr5:95918147-95918157
9	FOS	chr5:95918075-95918256	MCF10A-Er-Src	breast:	n/a	chr5:95918147-95918157
10	FOS	chr5:95920362-95920813	HUVEC	blood vessel:	n/a	n/a
11	FOXP2	chr5:95918111-95918428	SK-N-MC	brain:	n/a	n/a
12	FOXP2	chr5:95920469-95920763	PFSK-1	brain:	n/a	n/a
13	GATA2	chr5:95920376-95920823	HUVEC	blood vessel:	n/a	n/a
14	JUN	chr5:95920380-95920797	HUVEC	blood vessel:	n/a	n/a
15	KAP1	chr5:95918026-95918417	HEK293	kidney:	n/a	n/a
16	MAX	chr5:95917924-95918453	HCT-116	colon:	n/a	n/a
17	MAX	chr5:95918053-95918507	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr5:95918019-95918382	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr5:95919094-95919102	Hela-S3	cervix:	n/a	n/a
20	MYC	chr5:95913693-95913957	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr5:95920439-95920712	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr5:95918196-95918308	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr5:95919990-95920066	MCF-7	breast:	n/a	n/a
24	MYC	chr5:95913665-95913980	MCF10A-Er-Src	breast:	n/a	n/a
25	NFIC	chr5:95918040-95918471	ECC-1	luminal epithelium:	n/a	n/a
26	NFIC	chr5:95918026-95918566	ECC-1	luminal epithelium:	n/a	n/a
27	NR3C1	chr5:95915358-95915484	A549	lung:	n/a	n/a
28	NR3C1	chr5:95918089-95918430	ECC-1	luminal epithelium:	n/a	n/a
29	NR3C1	chr5:95915313-95915640	A549	lung:	n/a	n/a
30	PBX3	chr5:95917967-95918374	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:95920109-95921220	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr5:95919760-95921014	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr5:95918323-95918338	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr5:95919981-95920091	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:95918339-95918379	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr5:95921235-95921430	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr5:95919536-95923854	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr5:95917947-95918454	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr5:95919684-95923742	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr5:95918235-95918322	Gliobla	brain:	n/a	n/a
41	POLR2A	chr5:95918083-95918396	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:95918054-95918473	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr5:95918168-95918308	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr5:95918050-95918459	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr5:95920430-95920768	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr5:95918080-95918400	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:95918281-95918308	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr5:95919975-95919978	MCF-7	breast:	n/a	n/a
49	POLR2A	chr5:95919974-95920093	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:95920193-95920898	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95915327-95915377	AG10803	skin:	n/a
2	chr5:95915327-95915377	HCT-116	colon:	n/a
3	chr5:95915327-95915377	GM12892	blood:	n/a
4	chr5:95915327-95915377	MCF10A-Er-Src	breast:	n/a
5	chr5:95915327-95915377	U87	brain:	n/a
6	chr5:95915327-95915377	ProgFib	skin:	n/a
7	chr5:95915327-95915377	Hela-S3	cervix:	n/a
8	chr5:95915327-95915377	ECC-1	luminal epithelium:	n/a
9	chr5:95915327-95915377	LNCaP	prostate:	n/a
10	chr5:95915327-95915377	HAEpiC	amniotic membrane:	n/a
11	chr5:95915327-95915377	RPTEC	kidney:	n/a
12	chr5:95915327-95915377	HRCEpiC	kidney:	n/a
13	chr5:95915327-95915377	NHDF-neo	bronchial:	n/a
14	chr5:95915327-95915377	HRPEpiC	eye:	n/a
15	chr5:95915327-95915377	HMEC	breast:	n/a
16	chr5:95915327-95915377	Jurkat	blood:	n/a
17	chr5:95915327-95915377	K562	blood:	n/a
18	chr5:95915327-95915377	NH-A	brain:	n/a
19	chr5:95915327-95915377	HEEpiC	esophagus:	n/a
20	chr5:95915327-95915377	A549	lung:	n/a
21	chr5:95915327-95915377	GM06990	blood:	n/a
22	chr5:95915327-95915377	HIPEpiC	eye:	n/a
23	chr5:95915327-95915377	CMK	blood:	n/a
24	chr5:95915327-95915377	ovcar-3	ovarian:	n/a
25	chr5:95915327-95915377	SK-N-SH_RA	brain:	n/a
26	chr5:95915327-95915377	AG09319	gingival:	n/a
27	chr5:95915327-95915377	GM12891	blood:	n/a
28	chr5:95915327-95915377	HPAEpiC	pulmonary alveolar:	n/a
29	chr5:95915327-95915377	HCPEpiC	choroid plexus:	n/a
30	chr5:95915327-95915377	T-47D	breast:	n/a
31	chr5:95915327-95915377	AoSMC	blood vessel:	n/a
32	chr5:95915327-95915377	IMR90	lung:	fetal
33	chr5:95915327-95915377	SK-N-MC	brain:	n/a
34	chr5:95915327-95915377	AG04450	lung:	fetal
35	chr5:95915327-95915377	HRE	kidney:	n/a
36	chr5:95915327-95915377	NB4	blood:	n/a
37	chr5:95915327-95915377	HL-60	blood:	n/a
38	chr5:95915327-95915377	AG04449	skin:	fetal
39	chr5:95915327-95915377	AG09309	skin:	n/a
40	chr5:95915327-95915377	HEK293	kidney:	embryo
41	chr5:95915327-95915377	BE2_C	brain:	n/a
42	chr5:95915327-95915377	HCM	heart:	n/a
43	chr5:95915327-95915377	SK-N-SH	brain:	n/a
44	chr5:95915327-95915377	HepG2	liver:	n/a
45	chr5:95915327-95915377	H1-hESC	embryonic stem cell:	embryo
46	chr5:95915327-95915377	NT2-D1	testis:	n/a
47	chr5:95915327-95915377	SKMC	muscle:	n/a
48	chr5:95915327-95915377	GM12878	blood:	n/a
49	chr5:95915327-95915377	PFSK-1	brain:	n/a
50	chr5:95915327-95915377	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95900753..95902710-chr5:95911311..95913680,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAST-4	chr5:95920197-95920737	ENSG00000251314.1

No data

Variant related genes	Relation type
ENSG00000251314	TF binding region
ENSG00000251314	CpG island

Extended variants
information (count: 425 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459841	chr5:95910465-95910466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571277115	chr5:95910470-95910471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113334115	chr5:95910489-95910490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372515940	chr5:95910494-95910495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538355878	chr5:95910495-95910496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567740863	chr5:95910541-95910542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2168627	chr5:95910640-95910641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569086479	chr5:95910650-95910651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192241275	chr5:95910651-95910652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150178880	chr5:95910724-95910725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13184007	chr5:95910729-95910730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114900746	chr5:95910780-95910781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534240013	chr5:95910842-95910843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71630741	chr5:95910867-95910868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60479856	chr5:95910875-95910876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375644157	chr5:95910924-95910925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2124885	chr5:95911001-95911002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374243622	chr5:95911031-95911032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556322014	chr5:95911151-95911152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138637903	chr5:95911176-95911177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547503084	chr5:95911181-95911182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183260577	chr5:95911199-95911200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146306933	chr5:95911251-95911252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560451394	chr5:95911253-95911254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527983565	chr5:95911255-95911256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540181355	chr5:95911261-95911262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75174898	chr5:95911263-95911264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532200050	chr5:95911265-95911266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550731622	chr5:95911289-95911290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569052948	chr5:95911311-95911312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148885161	chr5:95911313-95911314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552788466	chr5:95911352-95911353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200064654	chr5:95911353-95911354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539444221	chr5:95911356-95911357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556321732	chr5:95911359-95911360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78564452	chr5:95911364-95911365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74560444	chr5:95911366-95911367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74542336	chr5:95911367-95911368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187925891	chr5:95911369-95911370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143541004	chr5:95911370-95911371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558876197	chr5:95911377-95911378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2085452	chr5:95911402-95911403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77164748	chr5:95911415-95911416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556283391	chr5:95911494-95911495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192527376	chr5:95911523-95911524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555507599	chr5:95911548-95911549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541975826	chr5:95911598-95911599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374883262	chr5:95911622-95911623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111476872	chr5:95911653-95911654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546197599	chr5:95911698-95911699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95905400-95918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:95908800-95917800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:95909000-95913600	Weak transcription	NHDF-Ad	bronchial
4	chr5:95909400-95913400	Weak transcription	NH-A	brain
5	chr5:95909400-95913600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:95909400-95914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:95909600-95913600	Weak transcription	HUVEC	blood vessel
8	chr5:95910400-95916600	Weak transcription	Hela-S3	cervix
9	chr5:95913400-95914800	Enhancers	NH-A	brain
10	chr5:95913600-95914200	Enhancers	NHDF-Ad	bronchial
11	chr5:95913600-95914800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:95913600-95915600	Enhancers	HUVEC	blood vessel
13	chr5:95914200-95915400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:95914200-95917800	Weak transcription	NHDF-Ad	bronchial
15	chr5:95914600-95915000	Enhancers	Esophagus	oesophagus
16	chr5:95914800-95915400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr5:95914800-95918000	Weak transcription	NH-A	brain
18	chr5:95915000-95915200	Enhancers	Placenta	Placenta
19	chr5:95915400-95916200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:95915600-95917800	Weak transcription	HUVEC	blood vessel
21	chr5:95916200-95916800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:95916600-95916800	Enhancers	Placenta	Placenta
23	chr5:95916600-95918000	Enhancers	Hela-S3	cervix
24	chr5:95916800-95918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:95917200-95919800	Enhancers	Fetal Brain Male	brain
26	chr5:95917800-95918000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:95917800-95918000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95917800-95918000	Enhancers	HUVEC	blood vessel
29	chr5:95917800-95918000	Active TSS	Osteobl	bone
30	chr5:95917800-95918200	Enhancers	NHDF-Ad	bronchial
31	chr5:95917800-95918400	Enhancers	Fetal Intestine Large	intestine
32	chr5:95917800-95918400	Enhancers	Fetal Intestine Small	intestine
33	chr5:95917800-95918400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:95918000-95918400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:95918000-95918400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:95918000-95918400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:95918000-95918400	Enhancers	A549	lung
38	chr5:95918000-95918400	Flanking Active TSS	Hela-S3	cervix
39	chr5:95918000-95918400	Flanking Active TSS	HUVEC	blood vessel
40	chr5:95918000-95918400	Enhancers	NH-A	brain
41	chr5:95918000-95918400	Flanking Active TSS	Osteobl	bone
42	chr5:95918200-95918400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:95918200-95918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:95918200-95918400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
45	chr5:95918200-95918400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr5:95918400-95918600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:95918400-95919400	Weak transcription	NH-A	brain
48	chr5:95918400-95920000	Enhancers	HUVEC	blood vessel
49	chr5:95918400-95924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:95918400-95926000	Weak transcription	Fetal Intestine Large	intestine

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