Variant report

Variant	nsv945440
Chromosome Location	chr1:247391364-247400265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247391534-247391673	K562	blood:	n/a	n/a
2	ATF1	chr1:247391585-247391603	K562	blood:	n/a	n/a
3	ATF1	chr1:247398497-247398512	K562	blood:	n/a	n/a
4	CBX3	chr1:247390822-247391878	K562	blood:	n/a	n/a
5	CTCF	chr1:247391560-247391710	HFF	foreskin:	n/a	n/a
6	CTCF	chr1:247391580-247391730	RPTEC	kidney:	n/a	n/a
7	CTCF	chr1:247391580-247391730	BE2_C	brain:	n/a	n/a
8	CTCF	chr1:247391540-247391690	A549	lung:	n/a	n/a
9	CTCF	chr1:247391493-247391814	K562	blood:	n/a	n/a
10	CTCF	chr1:247391640-247391790	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr1:247391549-247391787	IMR90	lung:	n/a	n/a
12	CTCF	chr1:247391625-247391667	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr1:247391662-247391726	HepG2	liver:	n/a	n/a
14	CTCF	chr1:247391680-247391830	GM12873	blood:	n/a	n/a
15	CTCF	chr1:247391580-247391730	K562	blood:	n/a	n/a
16	CTCF	chr1:247391566-247391767	K562	blood:	n/a	n/a
17	CTCF	chr1:247391580-247391730	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr1:247391560-247391710	AG09309	skin:	n/a	n/a
19	CTCF	chr1:247394655-247394761	GM10248	blood:	n/a	n/a
20	CTCF	chr1:247391646-247391654	HepG2	liver:	n/a	n/a
21	CTCF	chr1:247391588-247391753	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr1:247391680-247391830	HCM	heart:	n/a	n/a
23	CTCF	chr1:247391620-247391770	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr1:247391638-247391664	ProgFib	skin:	n/a	n/a
25	CTCF	chr1:247391586-247391707	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:247391633-247391713	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr1:247391520-247391670	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr1:247391560-247391710	NB4	blood:	n/a	n/a
29	CTCF	chr1:247393427-247393513	Lung_OC	lung:	n/a	n/a
30	CTCF	chr1:247394645-247394651	GM10248	blood:	n/a	n/a
31	E2F6	chr1:247399793-247399992	K562	blood:	n/a	n/a
32	EP300	chr1:247391336-247391525	K562	blood:	n/a	n/a
33	FOXA1	chr1:247391511-247391818	HepG2	liver:	n/a	n/a
34	FOXA2	chr1:247391551-247391738	HepG2	liver:	n/a	n/a
35	HCFC1	chr1:247391490-247391682	K562	blood:	n/a	n/a
36	IRF1	chr1:247391445-247391718	K562	blood:	n/a	n/a
37	IRF1	chr1:247391399-247391783	K562	blood:	n/a	n/a
38	JUND	chr1:247391315-247391711	K562	blood:	n/a	n/a
39	MAX	chr1:247399677-247400038	K562	blood:	n/a	n/a
40	MAX	chr1:247391353-247391533	K562	blood:	n/a	n/a
41	MYC	chr1:247391350-247391562	K562	blood:	n/a	n/a
42	NFYB	chr1:247391446-247391693	K562	blood:	n/a	chr1:247391585-247391600
43	NFYB	chr1:247391500-247391731	Hela-S3	cervix:	n/a	chr1:247391585-247391600
44	POLR2A	chr1:247391374-247391630	K562	blood:	n/a	n/a
45	RAD21	chr1:247391573-247391830	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr1:247391531-247391817	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr1:247391522-247391780	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr1:247391583-247391759	K562	blood:	n/a	n/a
49	RCOR1	chr1:247391441-247391794	K562	blood:	n/a	n/a
50	SETDB1	chr1:247391728-247392057	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:247397665..247399699-chr1:247438222..247441070,2	K562	blood:
2	chr1:247392601..247395028-chr1:247403697..247405933,2	K562	blood:
3	chr1:247395920..247398190-chr1:247413415..247415591,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214144	TF binding region
ENSG00000232347	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150268853	chr1:247391383-247391384	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536573511	chr1:247391398-247391399	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554634943	chr1:247391411-247391412	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372070114	chr1:247391447-247391448	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556712119	chr1:247391464-247391465	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376407563	chr1:247391485-247391486	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573544329	chr1:247391486-247391487	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs370012426	chr1:247391551-247391552	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138910410	chr1:247391560-247391561	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6671690	chr1:247391586-247391587	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72770390	chr1:247391591-247391592	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530306783	chr1:247391610-247391611	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149398453	chr1:247391675-247391676	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs72770391	chr1:247391687-247391688	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111770668	chr1:247391705-247391706	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75888680	chr1:247391748-247391749	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139567590	chr1:247391771-247391772	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs143473191	chr1:247391784-247391785	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370649898	chr1:247391879-247391880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538759248	chr1:247391880-247391881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547250531	chr1:247391902-247391903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575496438	chr1:247391927-247391928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs74896432	chr1:247391933-247391934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565886064	chr1:247391952-247391953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546050676	chr1:247391963-247391964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6672110	chr1:247392001-247392002	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544603258	chr1:247392028-247392029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs530153616	chr1:247392619-247392620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541588430	chr1:247392625-247392626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563636293	chr1:247392639-247392640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531147712	chr1:247392692-247392693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187382042	chr1:247392713-247392714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199609479	chr1:247392714-247392715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140284466	chr1:247392736-247392737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142237089	chr1:247392755-247392756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538386831	chr1:247392795-247392796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150791783	chr1:247392802-247392803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547483084	chr1:247392890-247392891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192108722	chr1:247392914-247392915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184099091	chr1:247392915-247392916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548454548	chr1:247392948-247392949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187367445	chr1:247393003-247393004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537381174	chr1:247393050-247393051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139184192	chr1:247393088-247393089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570846967	chr1:247393089-247393090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376052030	chr1:247393132-247393133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149935656	chr1:247393137-247393138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12145632	chr1:247393142-247393143	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs373263506	chr1:247393168-247393169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552187408	chr1:247393219-247393220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247391200-247391600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:247391400-247391800	Active TSS	A549	lung
3	chr1:247399600-247400200	Active TSS	K562	blood

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