Variant report

Variant	nsv969001
Chromosome Location	chr5:145097474-145111251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:145106362-145106709	K562	blood:	n/a	n/a
2	CBX3	chr5:145109249-145109584	K562	blood:	n/a	n/a
3	CTCF	chr5:145098660-145098810	AG04450	lung:	n/a	n/a
4	CTCF	chr5:145098673-145098793	NHEK	skin:	n/a	n/a
5	CTCF	chr5:145098680-145098830	BJ	skin:	n/a	n/a
6	CTCF	chr5:145098499-145098816	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:145098680-145098830	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:145098660-145098810	WI-38	lung:	n/a	n/a
9	CTCF	chr5:145098760-145098910	WI-38	lung:	n/a	n/a
10	CTCF	chr5:145098560-145098710	BE2_C	brain:	n/a	n/a
11	CTCF	chr5:145098560-145098710	WI-38	lung:	n/a	n/a
12	CTCF	chr5:145098640-145098790	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr5:145098580-145098730	NHEK	skin:	n/a	n/a
14	CTCF	chr5:145098620-145098770	Caco-2	colon:	n/a	n/a
15	CTCF	chr5:145098557-145098874	K562	blood:	n/a	n/a
16	CTCF	chr5:145098642-145098819	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr5:145098620-145098770	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr5:145098640-145098790	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr5:145098640-145098790	RPTEC	kidney:	n/a	n/a
20	CTCF	chr5:145098660-145098810	HRE	kidney:	n/a	n/a
21	CTCF	chr5:145098580-145098730	HVMF	connective:	n/a	n/a
22	CTCF	chr5:145098663-145098809	Fibrobl	skin:	n/a	n/a
23	CTCF	chr5:145098579-145098826	Medullo	brain:	n/a	n/a
24	CTCF	chr5:145098640-145098790	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr5:145098578-145098831	LNCaP	prostate:	n/a	n/a
26	CTCF	chr5:145098566-145098797	HepG2	liver:	n/a	n/a
27	CTCF	chr5:145098640-145098790	AG04449	skin:	n/a	n/a
28	CTCF	chr5:145098660-145098810	HCM	heart:	n/a	n/a
29	CTCF	chr5:145098609-145098834	HepG2	liver:	n/a	n/a
30	CTCF	chr5:145098529-145098942	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:145098720-145098870	HFF	foreskin:	n/a	n/a
32	CTCF	chr5:145098700-145098850	HCT-116	colon:	n/a	n/a
33	CTCF	chr5:145098660-145098810	AG04449	skin:	n/a	n/a
34	CTCF	chr5:145098660-145098810	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr5:145098820-145098970	A549	lung:	n/a	n/a
36	CTCF	chr5:145098330-145098989	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr5:145098513-145098982	IMR90	lung:	n/a	n/a
38	CTCF	chr5:145098618-145098843	LNCaP	prostate:	n/a	n/a
39	CTCF	chr5:145098620-145098770	HRE	kidney:	n/a	n/a
40	CTCF	chr5:145098588-145098854	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr5:145098640-145098790	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr5:145098620-145098770	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr5:145098560-145098710	HFF	foreskin:	n/a	n/a
44	CTCF	chr5:145098660-145098810	HMF	breast:	n/a	n/a
45	CTCF	chr5:145098580-145098730	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr5:145098620-145098770	AG09309	skin:	n/a	n/a
47	CTCF	chr5:145098640-145098790	HPF	lung:	n/a	n/a
48	CTCF	chr5:145098620-145098770	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr5:145098654-145098798	A549	lung:	n/a	n/a
50	CTCF	chr5:145098620-145098770	AG09319	gingival:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:145080788..145081576-chr5:145098526..145099103,2	MCF-7	breast:
2	chr5:145093601..145096391-chr5:145098604..145102525,3	MCF-7	breast:
3	chr5:145060908..145061744-chr5:145098314..145099122,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249363	TF binding region

Extended variants
information (count: 500 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550689796	chr5:145097516-145097517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540583982	chr5:145097528-145097529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138533601	chr5:145097577-145097578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193186720	chr5:145097637-145097638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185223949	chr5:145097654-145097655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369678369	chr5:145097673-145097674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567083389	chr5:145097736-145097737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190119311	chr5:145097755-145097756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529489688	chr5:145097794-145097795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182138292	chr5:145097815-145097816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184551226	chr5:145097826-145097827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568853272	chr5:145097864-145097865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537896723	chr5:145097900-145097901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560706690	chr5:145097941-145097942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188310378	chr5:145097968-145097969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112937389	chr5:145098019-145098020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141575466	chr5:145098050-145098051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573523896	chr5:145098073-145098074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2400196	chr5:145098132-145098133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565412052	chr5:145098279-145098280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144839548	chr5:145098419-145098420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372986709	chr5:145098423-145098424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532378341	chr5:145098428-145098429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551774863	chr5:145098477-145098478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542417310	chr5:145098507-145098508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562250579	chr5:145098513-145098514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112076277	chr5:145098736-145098737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544621559	chr5:145098761-145098762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564457004	chr5:145098792-145098793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533328325	chr5:145098800-145098801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547335871	chr5:145098820-145098821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567119690	chr5:145098945-145098946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548008349	chr5:145098960-145098961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549310702	chr5:145098981-145098982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180822106	chr5:145098999-145099000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185611811	chr5:145099042-145099043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571698667	chr5:145099058-145099059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143655188	chr5:145099060-145099061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148592283	chr5:145099082-145099083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557801057	chr5:145099093-145099094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570933277	chr5:145099167-145099168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1025472	chr5:145099204-145099205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs553661088	chr5:145099222-145099223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573589270	chr5:145099233-145099234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113437623	chr5:145099275-145099276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1025473	chr5:145099317-145099318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs575725846	chr5:145099333-145099334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573879934	chr5:145099385-145099386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536453577	chr5:145099413-145099414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544393747	chr5:145099472-145099473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145068600-145106200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:145082000-145106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:145091200-145106200	Weak transcription	Ovary	ovary
4	chr5:145100800-145101200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:145101600-145117400	Weak transcription	Gastric	stomach
6	chr5:145102200-145107600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:145102600-145103800	Enhancers	Fetal Lung	lung
8	chr5:145103200-145103800	Enhancers	Brain Germinal Matrix	brain
9	chr5:145105200-145111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
11	chr5:145105800-145106000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:145106000-145107800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr5:145106000-145109800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:145106000-145111400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
15	chr5:145106200-145106800	ZNF genes & repeats	Fetal Heart	heart
16	chr5:145106200-145107200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr5:145106200-145107600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr5:145106200-145107800	ZNF genes & repeats	Ovary	ovary
19	chr5:145106200-145110000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr5:145106200-145111400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr5:145106200-145114000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:145106400-145106800	ZNF genes & repeats	Colonic Mucosa	Colon
23	chr5:145106400-145107000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:145106400-145107400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr5:145106600-145107000	ZNF genes & repeats	Fetal Stomach	stomach
26	chr5:145106600-145107200	ZNF genes & repeats	Aorta	Aorta
27	chr5:145106600-145110600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr5:145106800-145108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:145107000-145107800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:145107000-145114200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:145107000-145114800	Weak transcription	Fetal Stomach	stomach
32	chr5:145107200-145123200	Weak transcription	Aorta	Aorta
33	chr5:145107400-145111000	Weak transcription	Right Ventricle	heart
34	chr5:145107600-145107800	ZNF genes & repeats	Left Ventricle	heart
35	chr5:145107600-145108000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr5:145107600-145108400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:145107800-145108800	Weak transcription	Ovary	ovary
38	chr5:145107800-145109200	Weak transcription	Left Ventricle	heart
39	chr5:145107800-145110200	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr5:145107800-145111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:145108000-145115000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:145108400-145108600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:145108600-145110400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:145108600-145110400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr5:145108800-145109000	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr5:145108800-145109600	ZNF genes & repeats	Ovary	ovary
47	chr5:145108800-145110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
48	chr5:145109000-145109400	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr5:145109000-145109600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:145109000-145109600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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