Variant report

Variant	nsv945928
Chromosome Location	chr1:47392738-47414613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:276)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:276 , 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	ARID3A	chr1:47407911-47408095	HepG2	liver:	n/a	n/a
2	BATF	chr1:47413385-47413596	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:47407842-47408063	HepG2	liver:	n/a	chr1:47407954-47407963 chr1:47407954-47407965
4	CEBPB	chr1:47400611-47400768	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:47407765-47408138	HepG2	liver:	n/a	chr1:47407954-47407963 chr1:47407954-47407965
6	CTCF	chr1:47400510-47400937	A549	lung:	n/a	n/a
7	CTCF	chr1:47400373-47400443	GM12892	blood:	n/a	chr1:47400399-47400412
8	CTCF	chr1:47400720-47400870	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:47400583-47400853	LNCaP	prostate:	n/a	n/a
10	CTCF	chr1:47400660-47400810	HMF	breast:	n/a	n/a
11	CTCF	chr1:47400554-47400869	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:47400640-47400790	HMEC	breast:	n/a	n/a
13	CTCF	chr1:47400539-47400822	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:47400534-47400845	K562	blood:	n/a	n/a
15	CTCF	chr1:47400673-47400745	GM20000	blood:	n/a	n/a
16	CTCF	chr1:47400640-47400790	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:47400640-47400790	GM06990	blood:	n/a	n/a
18	CTCF	chr1:47400640-47400790	HCFaa	heart:	n/a	n/a
19	CTCF	chr1:47400620-47400770	AG10803	skin:	n/a	n/a
20	CTCF	chr1:47401591-47401649	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr1:47400620-47400770	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr1:47400640-47400790	AG04449	skin:	n/a	n/a
23	CTCF	chr1:47400500-47400847	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:47400680-47400830	A549	lung:	n/a	n/a
25	CTCF	chr1:47400633-47400801	GM13976	blood:	n/a	n/a
26	CTCF	chr1:47400720-47400870	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr1:47400582-47400816	GM12878	blood:	n/a	n/a
28	CTCF	chr1:47400600-47400750	GM12873	blood:	n/a	n/a
29	CTCF	chr1:47411074-47411116	GM13976	blood:	n/a	n/a
30	CTCF	chr1:47400740-47400890	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr1:47400580-47400837	HepG2	liver:	n/a	n/a
32	CTCF	chr1:47400600-47400750	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr1:47397299-47397351	LNCaP	prostate:	n/a	n/a
34	CTCF	chr1:47400640-47400790	BJ	skin:	n/a	n/a
35	CTCF	chr1:47400576-47400817	GM12892	blood:	n/a	n/a
36	CTCF	chr1:47400520-47400670	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr1:47400520-47400670	GM12864	blood:	n/a	n/a
38	CTCF	chr1:47400492-47400847	HCT-116	colon:	n/a	n/a
39	CTCF	chr1:47400620-47400770	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr1:47400740-47400890	HCM	heart:	n/a	n/a
41	CTCF	chr1:47400660-47400810	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr1:47400506-47400822	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:47400564-47400834	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr1:47400640-47400790	HRE	kidney:	n/a	n/a
45	CTCF	chr1:47397303-47397358	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:47400500-47400650	BE2_C	brain:	n/a	n/a
47	CTCF	chr1:47400660-47400810	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr1:47400577-47400815	GM19238	blood:	n/a	n/a
49	CTCF	chr1:47400633-47400806	GM13977	blood:	n/a	n/a
50	CTCF	chr1:47400550-47400824	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47395331-47395381	HCPEpiC	choroid plexus:	n/a
2	chr1:47400701-47400751	HCT-116	colon:	n/a
3	chr1:47407043-47407093	ProgFib	skin:	n/a
4	chr1:47407158-47407208	ProgFib	skin:	n/a
5	chr1:47400701-47400751	HAEpiC	amniotic membrane:	n/a
6	chr1:47406950-47407000	GM12892	blood:	n/a
7	chr1:47395331-47395381	Caco-2	colon:	n/a
8	chr1:47400701-47400751	GM12892	blood:	n/a
9	chr1:47395331-47395381	SK-N-SH	brain:	n/a
10	chr1:47406950-47407000	Caco-2	colon:	n/a
11	chr1:47406950-47407000	HNPCEpiC	eye:	n/a
12	chr1:47407158-47407208	H1-hESC	embryonic stem cell:	embryo
13	chr1:47407043-47407093	HRPEpiC	eye:	n/a
14	chr1:47407158-47407208	AG04449	skin:	fetal
15	chr1:47407158-47407208	SKMC	muscle:	n/a
16	chr1:47395331-47395381	HepG2	liver:	n/a
17	chr1:47400701-47400751	A549	lung:	n/a
18	chr1:47407158-47407208	HRCEpiC	kidney:	n/a
19	chr1:47400701-47400751	NHDF-neo	bronchial:	n/a
20	chr1:47406950-47407000	HUVEC	blood vessel:	n/a
21	chr1:47400701-47400751	Hepatocyte	liver:	n/a
22	chr1:47395331-47395381	A549	lung:	n/a
23	chr1:47400701-47400751	PrEC	prostate:	n/a
24	chr1:47407043-47407093	AG04449	skin:	fetal
25	chr1:47395331-47395381	ProgFib	skin:	n/a
26	chr1:47406950-47407000	NHBE	bronchial:	n/a
27	chr1:47407158-47407208	T-47D	breast:	n/a
28	chr1:47406950-47407000	HEEpiC	esophagus:	n/a
29	chr1:47400701-47400751	NHBE	bronchial:	n/a
30	chr1:47400701-47400751	HL-60	blood:	n/a
31	chr1:47407158-47407208	SK-N-SH_RA	brain:	n/a
32	chr1:47406950-47407000	Jurkat	blood:	n/a
33	chr1:47406950-47407000	HRE	kidney:	n/a
34	chr1:47407043-47407093	AG09309	skin:	n/a
35	chr1:47406950-47407000	HAEpiC	amniotic membrane:	n/a
36	chr1:47407043-47407093	Hela-S3	cervix:	n/a
37	chr1:47395331-47395381	GM06990	blood:	n/a
38	chr1:47395331-47395381	SAEC	small airway:	n/a
39	chr1:47395331-47395381	NB4	blood:	n/a
40	chr1:47407043-47407093	ovcar-3	ovarian:	n/a
41	chr1:47395331-47395381	HEEpiC	esophagus:	n/a
42	chr1:47400701-47400751	HMEC	breast:	n/a
43	chr1:47407158-47407208	ECC-1	luminal epithelium:	n/a
44	chr1:47406950-47407000	LNCaP	prostate:	n/a
45	chr1:47407158-47407208	A549	lung:	n/a
46	chr1:47407043-47407093	CMK	blood:	n/a
47	chr1:47400701-47400751	IMR90	lung:	fetal
48	chr1:47407043-47407093	GM12891	blood:	n/a
49	chr1:47395331-47395381	HNPCEpiC	eye:	n/a
50	chr1:47407158-47407208	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
CYP4A11	TF binding region
CYP4A11	CpG island

Extended variants
information (count: 1067 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1067 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557149823	chr1:47392752-47392753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71572631	chr1:47392763-47392764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11585983	chr1:47392764-47392765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370281190	chr1:47392768-47392769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572857241	chr1:47392795-47392796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540633910	chr1:47392796-47392797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372527488	chr1:47392799-47392800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11211403	chr1:47392855-47392856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142878376	chr1:47392859-47392860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544461861	chr1:47392872-47392873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116031207	chr1:47392879-47392880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530618109	chr1:47392888-47392889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549051919	chr1:47392919-47392920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560973415	chr1:47392934-47392935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528041103	chr1:47392936-47392937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546598207	chr1:47392962-47392963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11211404	chr1:47392977-47392978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146603033	chr1:47392993-47392994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112083539	chr1:47393022-47393023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185966440	chr1:47393032-47393033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377233759	chr1:47393046-47393047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376758868	chr1:47393067-47393068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141364835	chr1:47393072-47393073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375611615	chr1:47393073-47393074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529215850	chr1:47393092-47393093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549280818	chr1:47393105-47393106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565943641	chr1:47393145-47393146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145161019	chr1:47393196-47393197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558943270	chr1:47393212-47393213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577456967	chr1:47393242-47393243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544934541	chr1:47393294-47393295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67392104	chr1:47393312-47393313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115431180	chr1:47393346-47393347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150285501	chr1:47393379-47393380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191403096	chr1:47393384-47393385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115883386	chr1:47393447-47393448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546264421	chr1:47393474-47393475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564937361	chr1:47393518-47393519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532303284	chr1:47393524-47393525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371667667	chr1:47393536-47393537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149475414	chr1:47393606-47393607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571361958	chr1:47393614-47393615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568823219	chr1:47393635-47393636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536007994	chr1:47393647-47393648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181322473	chr1:47393682-47393683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112936510	chr1:47393684-47393685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71497585	chr1:47393761-47393762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4660977	chr1:47393762-47393763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556946763	chr1:47393808-47393809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570777095	chr1:47393948-47393949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47391400-47393000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47391600-47393800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:47393000-47393200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:47393200-47400400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47393800-47394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:47394600-47396200	Weak transcription	Liver	Liver
7	chr1:47396200-47400600	Strong transcription	Liver	Liver
8	chr1:47400400-47400600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:47400400-47400800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:47400600-47401600	Weak transcription	Liver	Liver
11	chr1:47400800-47402600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:47401600-47403800	Genic enhancers	Liver	Liver
13	chr1:47402600-47404000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:47402600-47404000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:47402800-47403200	Enhancers	Pancreas	Pancrea
16	chr1:47403200-47406000	Weak transcription	Pancreas	Pancrea
17	chr1:47403800-47404400	Transcr. at gene 5' and 3'	Liver	Liver
18	chr1:47404000-47406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:47404000-47406400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:47404400-47404600	Active TSS	Liver	Liver
21	chr1:47404600-47405800	Flanking Active TSS	Liver	Liver
22	chr1:47405200-47406200	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:47405400-47406800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:47405800-47407800	Enhancers	Fetal Intestine Small	intestine
25	chr1:47405800-47408000	Enhancers	Fetal Intestine Large	intestine
26	chr1:47405800-47408200	Active TSS	Liver	Liver
27	chr1:47406000-47406200	Enhancers	Fetal Kidney	kidney
28	chr1:47406000-47407400	Enhancers	Pancreas	Pancrea
29	chr1:47406000-47407400	Enhancers	Stomach Mucosa	stomach
30	chr1:47406200-47406400	Flanking Active TSS	Fetal Kidney	kidney
31	chr1:47406200-47406400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:47406200-47406800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:47406200-47406800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:47406200-47407200	Enhancers	Gastric	stomach
35	chr1:47406200-47408600	Enhancers	HepG2	liver
36	chr1:47406400-47406600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:47406400-47406800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:47406400-47407000	Active TSS	Fetal Kidney	kidney
39	chr1:47406400-47408600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:47406600-47407000	Bivalent Enhancer	Small Intestine	intestine
41	chr1:47406800-47407800	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:47407000-47407400	Enhancers	Lung	lung
43	chr1:47407400-47412400	Weak transcription	Stomach Mucosa	stomach
44	chr1:47407800-47412800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:47407800-47414200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:47408000-47408400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:47408200-47408600	Flanking Active TSS	Liver	Liver
48	chr1:47408400-47408600	Enhancers	Fetal Intestine Large	intestine
49	chr1:47408600-47409800	Enhancers	Liver	Liver
50	chr1:47408600-47412800	Weak transcription	Fetal Intestine Large	intestine

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