Variant report

Variant	nsv968178
Chromosome Location	chr5:59715355-59730443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:59722961-59722993	K562	blood:	n/a	n/a
2	CTCF	chr5:59718802-59718835	Kidney_OC	kidney:	n/a	n/a
3	FOXA1	chr5:59716667-59716949	HepG2	liver:	n/a	n/a
4	FOXA2	chr5:59716668-59716914	HepG2	liver:	n/a	n/a
5	NR2F2	chr5:59726373-59726788	K562	blood:	n/a	n/a
6	PAX5	chr5:59727718-59727882	GM12878	blood:	n/a	n/a
7	PAX5	chr5:59727696-59727915	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:59720158-59720214	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:59726132-59726277	Gliobla	brain:	n/a	n/a
10	POLR2A	chr5:59721395-59721521	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr5:59721391-59721526	H1-hESC	embryonic stem cell:	n/a	n/a
12	RXRA	chr5:59721385-59721531	HepG2	liver:	n/a	n/a
13	SPI1	chr5:59720439-59720587	K562	blood:	n/a	n/a
14	SPI1	chr5:59720409-59720615	GM12878	blood:	n/a	n/a
15	SPI1	chr5:59720419-59720615	GM12891	blood:	n/a	n/a
16	TBL1XR1	chr5:59724424-59724446	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59727726-59727776	LNCaP	prostate:	n/a
2	chr5:59727726-59727776	HCT-116	colon:	n/a
3	chr5:59727726-59727776	SK-N-SH_RA	brain:	n/a
4	chr5:59727726-59727776	HL-60	blood:	n/a
5	chr5:59727726-59727776	ECC-1	luminal epithelium:	n/a
6	chr5:59727726-59727776	H1-hESC	embryonic stem cell:	embryo
7	chr5:59727726-59727776	PANC-1	pancreas:	n/a
8	chr5:59727726-59727776	HMEC	breast:	n/a
9	chr5:59727726-59727776	HRPEpiC	eye:	n/a
10	chr5:59727726-59727776	HRE	kidney:	n/a
11	chr5:59727726-59727776	BE2_C	brain:	n/a
12	chr5:59727726-59727776	ovcar-3	ovarian:	n/a
13	chr5:59727726-59727776	AG04450	lung:	fetal
14	chr5:59727726-59727776	NH-A	brain:	n/a
15	chr5:59727726-59727776	Hepatocyte	liver:	n/a
16	chr5:59727726-59727776	ProgFib	skin:	n/a
17	chr5:59727726-59727776	PrEC	prostate:	n/a
18	chr5:59727726-59727776	K562	blood:	n/a
19	chr5:59727726-59727776	GM12892	blood:	n/a
20	chr5:59727726-59727776	HepG2	liver:	n/a
21	chr5:59727726-59727776	A549	lung:	n/a
22	chr5:59727726-59727776	SAEC	small airway:	n/a
23	chr5:59727726-59727776	GM12878	blood:	n/a
24	chr5:59727726-59727776	HCF	heart:	n/a
25	chr5:59727726-59727776	AG09309	skin:	n/a
26	chr5:59727726-59727776	IMR90	lung:	fetal
27	chr5:59727726-59727776	Hela-S3	cervix:	n/a
28	chr5:59727726-59727776	T-47D	breast:	n/a
29	chr5:59727726-59727776	PFSK-1	brain:	n/a
30	chr5:59727726-59727776	HUVEC	blood vessel:	n/a
31	chr5:59727726-59727776	Caco-2	colon:	n/a
32	chr5:59727726-59727776	AG04449	skin:	fetal
33	chr5:59727726-59727776	NHBE	bronchial:	n/a
34	chr5:59727726-59727776	GM12891	blood:	n/a
35	chr5:59727726-59727776	SKMC	muscle:	n/a
36	chr5:59727726-59727776	HIPEpiC	eye:	n/a
37	chr5:59727726-59727776	HCPEpiC	choroid plexus:	n/a
38	chr5:59727726-59727776	Jurkat	blood:	n/a
39	chr5:59727726-59727776	HAEpiC	amniotic membrane:	n/a
40	chr5:59727726-59727776	SK-N-MC	brain:	n/a
41	chr5:59727726-59727776	HRCEpiC	kidney:	n/a
42	chr5:59727726-59727776	SK-N-SH	brain:	n/a
43	chr5:59727726-59727776	HEK293	kidney:	embryo
44	chr5:59727726-59727776	U87	brain:	n/a
45	chr5:59727726-59727776	MCF10A-Er-Src	breast:	n/a
46	chr5:59727726-59727776	AG09319	gingival:	n/a
47	chr5:59727726-59727776	NB4	blood:	n/a
48	chr5:59727726-59727776	BJ	skin:	n/a
49	chr5:59727726-59727776	AG10803	skin:	n/a
50	chr5:59727726-59727776	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000213896	TF binding region
ENSG00000224838	TF binding region
ENSG00000213896	CpG island
ENSG00000224838	CpG island

Extended variants
information (count: 710 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371821485	chr5:59715376-59715377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558883218	chr5:59715451-59715452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76428674	chr5:59715454-59715455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149301331	chr5:59715459-59715460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10053459	chr5:59715460-59715461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529636608	chr5:59715468-59715469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372189833	chr5:59715471-59715472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144486431	chr5:59715484-59715485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372985980	chr5:59715501-59715502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs42222	chr5:59715614-59715615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116567865	chr5:59715618-59715619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370601472	chr5:59715619-59715620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552207783	chr5:59715672-59715673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565855585	chr5:59715674-59715675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77432648	chr5:59715695-59715696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189512980	chr5:59715725-59715726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34447612	chr5:59715749-59715750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568416452	chr5:59715750-59715751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562054001	chr5:59715764-59715765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377725539	chr5:59715766-59715767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139609837	chr5:59715931-59715932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143411760	chr5:59715995-59715996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577416618	chr5:59716046-59716047	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577332759	chr5:59716077-59716078	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540116179	chr5:59716088-59716089	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373131650	chr5:59716164-59716165	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77850361	chr5:59716214-59716215	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559541190	chr5:59716262-59716263	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114746561	chr5:59716264-59716265	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376063977	chr5:59716437-59716438	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147130145	chr5:59716452-59716453	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370046400	chr5:59716453-59716454	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140300402	chr5:59716455-59716456	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543127816	chr5:59716458-59716459	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370713687	chr5:59716523-59716524	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562914753	chr5:59716524-59716525	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181844794	chr5:59716549-59716550	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13166292	chr5:59716550-59716551	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559437589	chr5:59716560-59716561	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs37706	chr5:59716592-59716593	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548042679	chr5:59716653-59716654	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115326217	chr5:59716654-59716655	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537515689	chr5:59716666-59716667	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551123628	chr5:59716667-59716668	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187105063	chr5:59716727-59716728	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539881286	chr5:59716775-59716776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553625087	chr5:59716796-59716797	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151330487	chr5:59716804-59716805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372705720	chr5:59716805-59716806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139350844	chr5:59716808-59716809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59712400-59716800	Enhancers	HepG2	liver
2	chr5:59713200-59716000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:59716000-59716600	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr5:59716400-59716800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:59716400-59716800	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:59716800-59717000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59717000-59730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:59730000-59730400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:59730400-59731000	Enhancers	Colon Smooth Muscle	Colon
11	chr5:59730400-59731800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:59730400-59733200	Enhancers	HepG2	liver

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