Variant report

Variant	nsv518690
Chromosome Location	chr4:69752468-69772694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:69771421-69772394	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr4:69771508-69772440	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:69772001-69772532	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr4:69771517-69771820	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr4:69771616-69771818	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:69770497-69770740	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:69761263-69761615	A549	lung:	n/a	n/a
8	CEBPB	chr4:69760373-69760644	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:69761262-69761546	A549	lung:	n/a	n/a
10	CHD1	chr4:69771227-69771760	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr4:69771319-69772937	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr4:69770434-69770964	GM12878	blood:	n/a	n/a
13	CHD2	chr4:69770494-69770785	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:69770522-69770677	NHEK	skin:	n/a	n/a
15	CTCF	chr4:69770472-69770739	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:69770560-69770710	HRE	kidney:	n/a	n/a
17	CTCF	chr4:69770560-69770710	GM12867	blood:	n/a	n/a
18	CTCF	chr4:69770360-69770510	GM06990	blood:	n/a	n/a
19	CTCF	chr4:69770540-69770690	HMEC	breast:	n/a	n/a
20	CTCF	chr4:69770580-69770730	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr4:69770540-69770690	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:69770518-69770685	GM19240	blood:	n/a	n/a
23	CTCF	chr4:69770507-69770684	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:69770500-69770650	GM12864	blood:	n/a	n/a
25	CTCF	chr4:69770476-69770836	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr4:69770500-69770650	GM12874	blood:	n/a	n/a
27	CTCF	chr4:69770520-69770670	HCFaa	heart:	n/a	n/a
28	CTCF	chr4:69770620-69770770	GM12870	blood:	n/a	n/a
29	CTCF	chr4:69770600-69770750	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr4:69769180-69769330	GM12872	blood:	n/a	n/a
31	CTCF	chr4:69770540-69770690	RPTEC	kidney:	n/a	n/a
32	CTCF	chr4:69770520-69770670	GM12873	blood:	n/a	n/a
33	CTCF	chr4:69768680-69768830	HepG2	liver:	n/a	n/a
34	CTCF	chr4:69768740-69768890	RPTEC	kidney:	n/a	n/a
35	CTCF	chr4:69768800-69768950	GM12872	blood:	n/a	n/a
36	CTCF	chr4:69770840-69770990	GM06990	blood:	n/a	n/a
37	CTCF	chr4:69770503-69770697	Gliobla	brain:	n/a	n/a
38	CTCF	chr4:69770500-69770650	HMEC	breast:	n/a	n/a
39	CTCF	chr4:69768674-69768958	K562	blood:	n/a	n/a
40	CTCF	chr4:69770580-69770730	GM12867	blood:	n/a	n/a
41	CTCF	chr4:69770540-69770690	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr4:69768808-69768865	K562	blood:	n/a	n/a
43	CTCF	chr4:69769240-69769390	RPTEC	kidney:	n/a	n/a
44	CTCF	chr4:69770485-69770699	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:69770560-69770710	HEK293	kidney:	n/a	n/a
46	CTCF	chr4:69769180-69769330	GM12873	blood:	n/a	n/a
47	CTCF	chr4:69770580-69770730	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr4:69770456-69770749	K562	blood:	n/a	n/a
49	CTCF	chr4:69770552-69770633	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:69770580-69770730	GM12871	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69771757-69771807	HCM	heart:	n/a
2	chr4:69771757-69771807	AG09319	gingival:	n/a
3	chr4:69771757-69771807	Hepatocyte	liver:	n/a
4	chr4:69771757-69771807	MCF10A-Er-Src	breast:	n/a
5	chr4:69771757-69771807	SKMC	muscle:	n/a
6	chr4:69771757-69771807	HCT-116	colon:	n/a
7	chr4:69771757-69771807	BE2_C	brain:	n/a
8	chr4:69771757-69771807	T-47D	breast:	n/a
9	chr4:69771757-69771807	BJ	skin:	n/a
10	chr4:69771757-69771807	Jurkat	blood:	n/a
11	chr4:69771757-69771807	MCF-7	breast:	n/a
12	chr4:69771757-69771807	AG10803	skin:	n/a
13	chr4:69771757-69771807	HCPEpiC	choroid plexus:	n/a
14	chr4:69771757-69771807	K562	blood:	n/a
15	chr4:69771757-69771807	GM06990	blood:	n/a
16	chr4:69771757-69771807	RPTEC	kidney:	n/a
17	chr4:69771757-69771807	SK-N-MC	brain:	n/a
18	chr4:69771757-69771807	ECC-1	luminal epithelium:	n/a
19	chr4:69771757-69771807	HRCEpiC	kidney:	n/a
20	chr4:69771757-69771807	SAEC	small airway:	n/a
21	chr4:69771757-69771807	HAEpiC	amniotic membrane:	n/a
22	chr4:69771757-69771807	SK-N-SH_RA	brain:	n/a
23	chr4:69771757-69771807	Caco-2	colon:	n/a
24	chr4:69771757-69771807	AG04450	lung:	fetal
25	chr4:69771757-69771807	SK-N-SH	brain:	n/a
26	chr4:69771757-69771807	HL-60	blood:	n/a
27	chr4:69771757-69771807	HEK293	kidney:	embryo
28	chr4:69771757-69771807	GM19239	blood:	n/a
29	chr4:69771757-69771807	AoSMC	blood vessel:	n/a
30	chr4:69771757-69771807	U87	brain:	n/a
31	chr4:69771757-69771807	NHBE	bronchial:	n/a
32	chr4:69771757-69771807	PANC-1	pancreas:	n/a
33	chr4:69771757-69771807	NH-A	brain:	n/a
34	chr4:69771757-69771807	PrEC	prostate:	n/a
35	chr4:69771757-69771807	HRE	kidney:	n/a
36	chr4:69771757-69771807	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:69771757-69771807	HNPCEpiC	eye:	n/a
38	chr4:69771757-69771807	HIPEpiC	eye:	n/a
39	chr4:69771757-69771807	NT2-D1	testis:	n/a
40	chr4:69771757-69771807	HMEC	breast:	n/a
41	chr4:69771757-69771807	HRPEpiC	eye:	n/a
42	chr4:69771757-69771807	HCF	heart:	n/a
43	chr4:69771757-69771807	NHDF-neo	bronchial:	n/a
44	chr4:69771757-69771807	HUVEC	blood vessel:	n/a
45	chr4:69771757-69771807	ovcar-3	ovarian:	n/a
46	chr4:69771757-69771807	Hela-S3	cervix:	n/a
47	chr4:69771757-69771807	CMK	blood:	n/a
48	chr4:69771757-69771807	GM12891	blood:	n/a
49	chr4:69771757-69771807	GM12878	blood:	n/a
50	chr4:69771757-69771807	AG04449	skin:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35451886..35454032-chr4:69771560..69773312,2	MCF-7	breast:
2	chr4:69755920..69758085-chr4:69768537..69771437,2	MCF-7	breast:
3	chr4:69730313..69732082-chr4:69762356..69764791,2	MCF-7	breast:
4	chr14:35810366..35811287-chr4:69770665..69771581,2	MCF-7	breast:
5	chr4:69755920..69758085-chr4:69768537..69771437,2	MCF-7	breast:
6	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2A3-4	chr4:69766726-69767093	ENSG00000272626.1
2	lnc-UGT2A3-4	chr4:69772593-69772701	ENSG00000272626.1

No data

Variant related genes	Relation type
ENSG00000248547	TF binding region
ENSG00000248613	TF binding region
ENSG00000248547	CpG island
ENSG00000248613	CpG island
ENSG00000100883	chromatin interactions
ENSG00000083896	chromatin interactions

Extended variants
information (count: 869 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11724856	chr4:69752468-69752469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138107898	chr4:69752474-69752475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377278404	chr4:69752501-69752502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149525184	chr4:69752505-69752506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557601769	chr4:69752509-69752510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189376590	chr4:69752563-69752564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577547678	chr4:69752662-69752663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570972719	chr4:69752699-69752700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539501163	chr4:69752714-69752715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10155063	chr4:69752727-69752728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs118181078	chr4:69752750-69752751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144042131	chr4:69752770-69752771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557215559	chr4:69752787-69752788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75564894	chr4:69752802-69752803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555267980	chr4:69752845-69752846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367924720	chr4:69752848-69752849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537490634	chr4:69752868-69752869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181834160	chr4:69752930-69752931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577674026	chr4:69752965-69752966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539909542	chr4:69752969-69752970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573793305	chr4:69752970-69752971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148656644	chr4:69753037-69753038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573329327	chr4:69753081-69753082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185614640	chr4:69753110-69753111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562408347	chr4:69753165-69753166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189285947	chr4:69753177-69753178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550996899	chr4:69753196-69753197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144735845	chr4:69753221-69753222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542371388	chr4:69753261-69753262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546747209	chr4:69753309-69753310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114127826	chr4:69753365-69753366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180857501	chr4:69753374-69753375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77559138	chr4:69753402-69753403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147491040	chr4:69753428-69753429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199573813	chr4:69753431-69753432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545781581	chr4:69753432-69753433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112764399	chr4:69753498-69753499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139976149	chr4:69753500-69753501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571122146	chr4:69753512-69753513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533911177	chr4:69753536-69753537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553614834	chr4:69753601-69753602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573769767	chr4:69753617-69753618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542487319	chr4:69753624-69753625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555949298	chr4:69753649-69753650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576017878	chr4:69753655-69753656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544883102	chr4:69753684-69753685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80121019	chr4:69753685-69753686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546712423	chr4:69753689-69753690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186522266	chr4:69753704-69753705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540605031	chr4:69753760-69753761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69749800-69752800	Weak transcription	Fetal Intestine Large	intestine
2	chr4:69750000-69763000	Weak transcription	Pancreas	Pancrea
3	chr4:69752000-69752800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:69752800-69753000	Enhancers	Fetal Intestine Large	intestine
5	chr4:69756000-69757800	Active TSS	Liver	Liver
6	chr4:69757800-69758000	Flanking Active TSS	Liver	Liver
7	chr4:69758000-69759200	Enhancers	Liver	Liver
8	chr4:69759200-69761200	Weak transcription	Liver	Liver
9	chr4:69761200-69763200	Enhancers	Liver	Liver
10	chr4:69761400-69762600	Enhancers	Stomach Mucosa	stomach
11	chr4:69762000-69769400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:69762200-69762400	Enhancers	Small Intestine	intestine
13	chr4:69762800-69763200	Enhancers	Fetal Intestine Large	intestine
14	chr4:69763000-69763200	Enhancers	Fetal Intestine Small	intestine
15	chr4:69763000-69763200	Enhancers	Pancreas	Pancrea
16	chr4:69763000-69763200	Enhancers	Small Intestine	intestine
17	chr4:69763200-69763800	Weak transcription	Fetal Intestine Small	intestine
18	chr4:69763200-69764600	Weak transcription	Liver	Liver
19	chr4:69763200-69769400	Weak transcription	Pancreas	Pancrea
20	chr4:69763200-69770200	Weak transcription	Fetal Intestine Large	intestine
21	chr4:69763800-69764000	Enhancers	Fetal Intestine Small	intestine
22	chr4:69764000-69766400	Weak transcription	Fetal Intestine Small	intestine
23	chr4:69764600-69766000	Enhancers	Liver	Liver
24	chr4:69765000-69770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:69766000-69766400	Weak transcription	Liver	Liver
26	chr4:69766000-69769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:69766400-69766600	Enhancers	Liver	Liver
28	chr4:69766400-69767800	Strong transcription	Fetal Intestine Small	intestine
29	chr4:69766600-69769600	Weak transcription	Liver	Liver
30	chr4:69767600-69768400	Enhancers	HepG2	liver
31	chr4:69767800-69768000	Weak transcription	Fetal Intestine Small	intestine
32	chr4:69768000-69768600	Enhancers	Fetal Intestine Small	intestine
33	chr4:69768400-69770400	Weak transcription	HepG2	liver
34	chr4:69768600-69769400	Weak transcription	Fetal Intestine Small	intestine
35	chr4:69769400-69769800	Enhancers	Pancreas	Pancrea
36	chr4:69769400-69770200	Enhancers	Fetal Intestine Small	intestine
37	chr4:69769400-69773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:69769600-69769800	Enhancers	Liver	Liver
39	chr4:69769600-69770400	Enhancers	Stomach Mucosa	stomach
40	chr4:69769600-69771000	Active TSS	Duodenum Mucosa	Duodenum
41	chr4:69769600-69771600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:69769600-69773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:69769800-69770000	Flanking Active TSS	Pancreas	Pancrea
44	chr4:69769800-69770400	Flanking Active TSS	Liver	Liver
45	chr4:69769800-69770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:69769800-69771000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:69769800-69771000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:69769800-69771600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:69769800-69772200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:69769800-69772400	Enhancers	Placenta	Placenta

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