Variant report

Variant	nsv513139
Chromosome Location	chr4:76964249-76972315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr4:76970337-76970577	K562	blood:	n/a	n/a
2	FOSL1	chr4:76970289-76970548	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOSL1	chr4:76970234-76970511	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr4:76968856-76969246	K562	blood:	n/a	n/a
5	HEY1	chr4:76969595-76970232	K562	blood:	n/a	n/a
6	HEY1	chr4:76967905-76968134	K562	blood:	n/a	n/a
7	HEY1	chr4:76970305-76971273	K562	blood:	n/a	n/a
8	MAX	chr4:76970355-76970649	K562	blood:	n/a	n/a
9	MYC	chr4:76970406-76970610	K562	blood:	n/a	n/a
10	NFYA	chr4:76971365-76971576	K562	blood:	n/a	n/a
11	NFYB	chr4:76971234-76971748	K562	blood:	n/a	n/a
12	PAX5	chr4:76966276-76966501	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:76970337-76971255	K562	blood:	n/a	n/a
14	POLR2A	chr4:76971287-76971375	K562	blood:	n/a	n/a
15	POLR2A	chr4:76970913-76970938	K562	blood:	n/a	n/a
16	POLR2A	chr4:76968062-76968268	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:76966224-76966444	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:76967813-76968180	K562	blood:	n/a	n/a
19	POLR2A	chr4:76968060-76968276	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:76966487-76967250	K562	blood:	n/a	n/a
21	POLR2A	chr4:76969284-76969363	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:76966993-76967178	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:76967354-76967607	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:76965878-76966122	K562	blood:	n/a	n/a
25	POLR2A	chr4:76966287-76966432	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:76971328-76971459	K562	blood:	n/a	n/a
27	POLR2A	chr4:76966557-76967633	K562	blood:	n/a	n/a
28	POLR2A	chr4:76964708-76964920	K562	blood:	n/a	n/a
29	POLR2A	chr4:76970435-76970697	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:76968319-76968737	K562	blood:	n/a	n/a
31	POLR2A	chr4:76969713-76970031	K562	blood:	n/a	n/a
32	POLR2A	chr4:76970377-76971267	K562	blood:	n/a	n/a
33	POLR2A	chr4:76970570-76970705	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:76964354-76964757	K562	blood:	n/a	n/a
35	POLR2A	chr4:76970406-76970551	K562	blood:	n/a	n/a
36	POLR2A	chr4:76970371-76971435	K562	blood:	n/a	n/a
37	POLR2A	chr4:76966707-76966875	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:76966985-76967155	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:76971316-76971447	K562	blood:	n/a	n/a
40	POLR2A	chr4:76968287-76968698	K562	blood:	n/a	n/a
41	POLR2A	chr4:76968878-76969255	K562	blood:	n/a	n/a
42	POLR2A	chr4:76967776-76968178	K562	blood:	n/a	n/a
43	SPI1	chr4:76970350-76970488	K562	blood:	n/a	n/a
44	TBP	chr4:76971279-76971436	K562	blood:	n/a	n/a
45	YY1	chr4:76970412-76970615	K562	blood:	n/a	n/a
46	ZNF143	chr4:76970364-76970588	K562	blood:	n/a	n/a
47	ZNF143	chr4:76970316-76970614	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76970912-76970962	Hela-S3	cervix:	n/a
2	chr4:76971098-76971148	MCF-7	breast:	n/a
3	chr4:76971098-76971148	PFSK-1	brain:	n/a
4	chr4:76971098-76971148	HepG2	liver:	n/a
5	chr4:76971098-76971148	GM12878	blood:	n/a
6	chr4:76971098-76971148	NB4	blood:	n/a
7	chr4:76971098-76971148	RPTEC	kidney:	n/a
8	chr4:76971098-76971148	HIPEpiC	eye:	n/a
9	chr4:76970912-76970962	GM12891	blood:	n/a
10	chr4:76971098-76971148	HCF	heart:	n/a
11	chr4:76970912-76970962	HMEC	breast:	n/a
12	chr4:76970912-76970962	CMK	blood:	n/a
13	chr4:76970912-76970962	T-47D	breast:	n/a
14	chr4:76970912-76970962	AoSMC	blood vessel:	n/a
15	chr4:76970912-76970962	AG04449	skin:	fetal
16	chr4:76970912-76970962	HIPEpiC	eye:	n/a
17	chr4:76970912-76970962	HUVEC	blood vessel:	n/a
18	chr4:76971098-76971148	NH-A	brain:	n/a
19	chr4:76971098-76971148	AG09319	gingival:	n/a
20	chr4:76971098-76971148	AG04449	skin:	fetal
21	chr4:76970912-76970962	HAEpiC	amniotic membrane:	n/a
22	chr4:76971098-76971148	BE2_C	brain:	n/a
23	chr4:76970912-76970962	HEK293	kidney:	embryo
24	chr4:76970912-76970962	MCF10A-Er-Src	breast:	n/a
25	chr4:76970912-76970962	Caco-2	colon:	n/a
26	chr4:76971098-76971148	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:76970912-76970962	HRE	kidney:	n/a
28	chr4:76970912-76970962	HPAEpiC	pulmonary alveolar:	n/a
29	chr4:76970912-76970962	LNCaP	prostate:	n/a
30	chr4:76971098-76971148	MCF10A-Er-Src	breast:	n/a
31	chr4:76970912-76970962	NHBE	bronchial:	n/a
32	chr4:76970912-76970962	SK-N-SH	brain:	n/a
33	chr4:76971098-76971148	AG10803	skin:	n/a
34	chr4:76971098-76971148	Jurkat	blood:	n/a
35	chr4:76970912-76970962	SK-N-MC	brain:	n/a
36	chr4:76970912-76970962	PFSK-1	brain:	n/a
37	chr4:76970912-76970962	AG09309	skin:	n/a
38	chr4:76970912-76970962	NHDF-neo	bronchial:	n/a
39	chr4:76971098-76971148	CMK	blood:	n/a
40	chr4:76970912-76970962	ovcar-3	ovarian:	n/a
41	chr4:76971098-76971148	HNPCEpiC	eye:	n/a
42	chr4:76971098-76971148	A549	lung:	n/a
43	chr4:76971098-76971148	T-47D	breast:	n/a
44	chr4:76971098-76971148	ECC-1	luminal epithelium:	n/a
45	chr4:76970912-76970962	AG10803	skin:	n/a
46	chr4:76971098-76971148	AoSMC	blood vessel:	n/a
47	chr4:76970912-76970962	NH-A	brain:	n/a
48	chr4:76971098-76971148	GM12891	blood:	n/a
49	chr4:76970912-76970962	PrEC	prostate:	n/a
50	chr4:76970912-76970962	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76965007..76966761-chr4:77015642..77017925,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM47E-1	chr4:76965316-76965818	l_2670_chr4:76963126-76965818_testes

No data

Variant related genes	Relation type
CXCL11	TF binding region
CXCL11	CpG island
ENSG00000265931	chromatin interactions

Extended variants
information (count: 467 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:467 , 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	rs6532124	chr4:76964303-76964304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558771779	chr4:76964346-76964347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576987687	chr4:76964350-76964351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373773047	chr4:76964384-76964385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113245161	chr4:76964432-76964433	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555874918	chr4:76964433-76964434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574174668	chr4:76964435-76964436	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs6532126	chr4:76964438-76964439	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs371619968	chr4:76964447-76964448	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6824381	chr4:76964470-76964471	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs6849464	chr4:76964471-76964472	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs184310000	chr4:76964472-76964473	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565543048	chr4:76964494-76964495	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532611010	chr4:76964497-76964498	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562025942	chr4:76964521-76964522	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs551177340	chr4:76964528-76964529	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569400517	chr4:76964554-76964555	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530212283	chr4:76964567-76964568	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529598545	chr4:76964578-76964579	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566877251	chr4:76964581-76964582	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534170898	chr4:76964593-76964594	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs558595005	chr4:76964624-76964625	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560684130	chr4:76964661-76964662	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs570711679	chr4:76964665-76964666	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs537673129	chr4:76964702-76964703	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555938199	chr4:76964709-76964710	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188704801	chr4:76964730-76964731	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181080802	chr4:76964755-76964756	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553403296	chr4:76964758-76964759	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs6824963	chr4:76964779-76964780	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs6850104	chr4:76964780-76964781	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs531901125	chr4:76964786-76964787	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs6855257	chr4:76964788-76964789	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544862887	chr4:76964793-76964794	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563085389	chr4:76964801-76964802	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530272389	chr4:76964806-76964807	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548723243	chr4:76964808-76964809	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs71629030	chr4:76964846-76964847	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs141040304	chr4:76964851-76964852	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs149834326	chr4:76964852-76964853	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
41	rs35035038	chr4:76964881-76964882	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs71629031	chr4:76964893-76964894	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs71629032	chr4:76964918-76964919	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184416815	chr4:76964924-76964925	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71629033	chr4:76964934-76964935	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs71629034	chr4:76964953-76964954	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs35170645	chr4:76964956-76964957	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs189402753	chr4:76964965-76964966	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182239517	chr4:76964966-76964967	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572089584	chr4:76965007-76965008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76958200-76972600	Weak transcription	Right Atrium	heart
2	chr4:76964400-76965000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:76964600-76965000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:76964600-76965400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:76965000-76977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:76969600-76971200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:76969800-76970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:76970000-76971200	Active TSS	K562	blood
9	chr4:76970600-76971000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:76971000-76974800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:76971200-76975000	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links