Variant report

Variant	nsv967291
Chromosome Location	chr4:47954000-47981934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:47970905-47970974	K562	blood:	n/a	n/a
2	BCLAF1	chr4:47974202-47974537	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:47974323-47974521	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:47956742-47956745	K562	blood:	n/a	n/a
5	CEBPB	chr4:47974832-47975073	A549	lung:	n/a	n/a
6	CEBPB	chr4:47974823-47975111	HepG2	liver:	n/a	n/a
7	CTCF	chr4:47962372-47962414	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr4:47956057-47956129	Gliobla	brain:	n/a	n/a
9	CTCF	chr4:47972300-47972450	GM12873	blood:	n/a	n/a
10	CUX1	chr4:47966560-47966750	K562	blood:	n/a	n/a
11	E2F4	chr4:47968286-47968544	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr4:47974180-47974617	GM12878	blood:	n/a	n/a
13	EBF1	chr4:47974302-47974507	GM12878	blood:	n/a	n/a
14	EP300	chr4:47974323-47974426	GM12878	blood:	n/a	n/a
15	EP300	chr4:47974258-47974518	GM12878	blood:	n/a	n/a
16	EP300	chr4:47956925-47957224	GM12878	blood:	n/a	n/a
17	FOS	chr4:47966155-47966245	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr4:47970904-47971272	T-47D	breast:	n/a	chr4:47971064-47971079
19	FOXA1	chr4:47974681-47975034	T-47D	breast:	n/a	n/a
20	FOXA1	chr4:47970883-47971138	HepG2	liver:	n/a	chr4:47971064-47971079
21	IRF1	chr4:47954576-47954664	K562	blood:	n/a	n/a
22	JUN	chr4:47970939-47971192	HepG2	liver:	n/a	chr4:47971054-47971067
23	JUND	chr4:47970971-47971190	K562	blood:	n/a	n/a
24	JUND	chr4:47970890-47971229	HepG2	liver:	n/a	n/a
25	MAFF	chr4:47967963-47968190	HepG2	liver:	n/a	chr4:47968060-47968078
26	MAFF	chr4:47956760-47956983	K562	blood:	n/a	n/a
27	MAFK	chr4:47967994-47968186	HepG2	liver:	n/a	chr4:47968062-47968077
28	MAFK	chr4:47956807-47956935	K562	blood:	n/a	chr4:47956879-47956893
29	MAFK	chr4:47956874-47956943	HepG2	liver:	n/a	chr4:47956879-47956893
30	MAFK	chr4:47966818-47967046	HepG2	liver:	n/a	chr4:47966919-47966935
31	MAFK	chr4:47956834-47956961	HepG2	liver:	n/a	chr4:47956879-47956893
32	MAFK	chr4:47967952-47968188	IMR90	lung:	n/a	chr4:47968062-47968077
33	MAFK	chr4:47974071-47974198	HepG2	liver:	n/a	n/a
34	MAFK	chr4:47967908-47968234	HepG2	liver:	n/a	chr4:47968062-47968077
35	MAX	chr4:47974279-47974445	GM12878	blood:	n/a	n/a
36	MXI1	chr4:47974344-47974414	GM12878	blood:	n/a	n/a
37	NFYB	chr4:47966159-47966314	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:47957157-47957360	K562	blood:	n/a	n/a
39	POLR2A	chr4:47964547-47964747	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:47960436-47960566	HepG2	liver:	n/a	n/a
41	POLR2A	chr4:47959499-47959548	ProgFib	skin:	n/a	n/a
42	POLR2A	chr4:47967212-47967435	K562	blood:	n/a	n/a
43	POLR2A	chr4:47961437-47961460	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:47980853-47980884	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:47964943-47965063	K562	blood:	n/a	n/a
46	POLR2A	chr4:47964665-47964863	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:47957169-47957644	K562	blood:	n/a	n/a
48	POLR2A	chr4:47965173-47965319	MCF10A-Er-Src	breast:	n/a	n/a
49	RCOR1	chr4:47974426-47974496	GM12878	blood:	n/a	n/a
50	RFX5	chr4:47969443-47969474	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47956011-47956061	LNCaP	prostate:	n/a
2	chr4:47956011-47956061	Jurkat	blood:	n/a
3	chr4:47956011-47956061	NHBE	bronchial:	n/a
4	chr4:47956011-47956061	NT2-D1	testis:	n/a
5	chr4:47955755-47955805	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:47956011-47956061	HNPCEpiC	eye:	n/a
7	chr4:47955755-47955805	AG04450	lung:	fetal
8	chr4:47956011-47956061	HCF	heart:	n/a
9	chr4:47956011-47956061	Hela-S3	cervix:	n/a
10	chr4:47955755-47955805	Jurkat	blood:	n/a
11	chr4:47955755-47955805	HIPEpiC	eye:	n/a
12	chr4:47956011-47956061	GM12891	blood:	n/a
13	chr4:47955755-47955805	HMEC	breast:	n/a
14	chr4:47955755-47955805	NHDF-neo	bronchial:	n/a
15	chr4:47955755-47955805	Caco-2	colon:	n/a
16	chr4:47956011-47956061	HEEpiC	esophagus:	n/a
17	chr4:47956011-47956061	AG04450	lung:	fetal
18	chr4:47956011-47956061	SAEC	small airway:	n/a
19	chr4:47956011-47956061	AG10803	skin:	n/a
20	chr4:47955755-47955805	AG04449	skin:	fetal
21	chr4:47956011-47956061	HCT-116	colon:	n/a
22	chr4:47955755-47955805	HEK293	kidney:	embryo
23	chr4:47955755-47955805	HAEpiC	amniotic membrane:	n/a
24	chr4:47956011-47956061	NB4	blood:	n/a
25	chr4:47955755-47955805	ovcar-3	ovarian:	n/a
26	chr4:47956011-47956061	PrEC	prostate:	n/a
27	chr4:47956011-47956061	ECC-1	luminal epithelium:	n/a
28	chr4:47955755-47955805	SK-N-MC	brain:	n/a
29	chr4:47955755-47955805	HEEpiC	esophagus:	n/a
30	chr4:47956011-47956061	HRCEpiC	kidney:	n/a
31	chr4:47955755-47955805	Hepatocyte	liver:	n/a
32	chr4:47956011-47956061	NH-A	brain:	n/a
33	chr4:47956011-47956061	SK-N-MC	brain:	n/a
34	chr4:47955755-47955805	IMR90	lung:	fetal
35	chr4:47955755-47955805	GM19239	blood:	n/a
36	chr4:47956011-47956061	GM06990	blood:	n/a
37	chr4:47955755-47955805	CMK	blood:	n/a
38	chr4:47956011-47956061	RPTEC	kidney:	n/a
39	chr4:47956011-47956061	PFSK-1	brain:	n/a
40	chr4:47955755-47955805	HCF	heart:	n/a
41	chr4:47956011-47956061	AoSMC	blood vessel:	n/a
42	chr4:47955755-47955805	Hela-S3	cervix:	n/a
43	chr4:47955755-47955805	PrEC	prostate:	n/a
44	chr4:47955755-47955805	SK-N-SH	brain:	n/a
45	chr4:47956011-47956061	ovcar-3	ovarian:	n/a
46	chr4:47956011-47956061	GM12878	blood:	n/a
47	chr4:47955755-47955805	LNCaP	prostate:	n/a
48	chr4:47956011-47956061	HAEpiC	amniotic membrane:	n/a
49	chr4:47955755-47955805	U87	brain:	n/a
50	chr4:47956011-47956061	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47950304..47952978-chr4:47956246..47958619,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NIPAL1-1	chr4:47961041-47961158	NONHSAT096274
2	lnc-NIPAL1-1	chr4:47961041-47961156	NONHSAT096275

No data

Variant related genes	Relation type
ENSG00000221764	TF binding region
CNGA1	TF binding region
ENSG00000221764	CpG island
CNGA1	CpG island

Extended variants
information (count: 323 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139804361	chr4:47954093-47954094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566873260	chr4:47954114-47954115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562033735	chr4:47954145-47954146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143508538	chr4:47954178-47954179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145779138	chr4:47954225-47954226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146746601	chr4:47954240-47954241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182439519	chr4:47954350-47954351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371472604	chr4:47954385-47954386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368318510	chr4:47954386-47954387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568389688	chr4:47954389-47954390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534382212	chr4:47954417-47954418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557633510	chr4:47954425-47954426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10665658	chr4:47954428-47954429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140348239	chr4:47954449-47954450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187061658	chr4:47954506-47954507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535272249	chr4:47954543-47954544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80034294	chr4:47954610-47954611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377132724	chr4:47954617-47954618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370443580	chr4:47954620-47954621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76537883	chr4:47954624-47954625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199636364	chr4:47954625-47954626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548847492	chr4:47954647-47954648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191905128	chr4:47954671-47954672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552039783	chr4:47954680-47954681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534317245	chr4:47954691-47954692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371153637	chr4:47954741-47954742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577618265	chr4:47954782-47954783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570280488	chr4:47954858-47954859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538734847	chr4:47954894-47954895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1972884	chr4:47954938-47954939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs576731517	chr4:47954941-47954942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544056774	chr4:47955032-47955033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562351980	chr4:47955055-47955056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555769752	chr4:47955113-47955114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541021633	chr4:47955114-47955115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549458411	chr4:47955115-47955116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185175180	chr4:47955131-47955132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6849678	chr4:47955179-47955180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190414560	chr4:47955228-47955229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193081001	chr4:47955373-47955374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563471731	chr4:47955396-47955397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569801104	chr4:47955401-47955402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145763997	chr4:47955459-47955460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567511591	chr4:47955552-47955553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567222303	chr4:47955613-47955614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371883589	chr4:47955634-47955635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573932389	chr4:47955638-47955639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535058294	chr4:47955658-47955659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553777195	chr4:47955676-47955677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185823691	chr4:47955732-47955733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47953600-47955400	Weak transcription	Liver	Liver
2	chr4:47954600-47959200	Weak transcription	Right Atrium	heart
3	chr4:47956000-47956600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:47956200-47956800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:47956400-47956800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr4:47956400-47956800	Enhancers	K562	blood
7	chr4:47956600-47957000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:47973800-47975400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:47974000-47974800	Enhancers	GM12878-XiMat	blood
10	chr4:47974000-47975200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:47975200-47976400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:47975400-47976400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:47976400-47977400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:47976400-47977600	Enhancers	Monocytes-CD14+_RO01746	blood

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