Variant report

Variant	esv3407766
Chromosome Location	chr7:57879295-57881691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:57880837-57881082	K562	blood:	n/a	n/a
2	CTCF	chr7:57879165-57879360	K562	blood:	n/a	n/a
3	HEY1	chr7:57881359-57881555	K562	blood:	n/a	n/a
4	HEY1	chr7:57881356-57881656	K562	blood:	n/a	n/a
5	JUN	chr7:57881080-57881217	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr7:57879356-57879364	K562	blood:	n/a	n/a
7	NRF1	chr7:57879176-57879371	K562	blood:	n/a	chr7:57879325-57879336
8	NRF1	chr7:57879209-57879640	SK-N-SH	brain:	n/a	chr7:57879325-57879336
9	NRF1	chr7:57881494-57882037	SK-N-SH	brain:	n/a	n/a
10	PAX5	chr7:57880564-57880729	GM12878	blood:	n/a	n/a
11	PAX5	chr7:57879790-57879978	GM12878	blood:	n/a	n/a
12	PAX5	chr7:57881289-57881475	GM12878	blood:	n/a	n/a
13	TCF3	chr7:57879414-57879633	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57880009-57880059	HL-60	blood:	n/a
2	chr7:57880009-57880059	NHBE	bronchial:	n/a
3	chr7:57881100-57881150	HRPEpiC	eye:	n/a
4	chr7:57881130-57881180	AG04449	skin:	fetal
5	chr7:57881100-57881150	ECC-1	luminal epithelium:	n/a
6	chr7:57881130-57881180	ECC-1	luminal epithelium:	n/a
7	chr7:57881100-57881150	HRE	kidney:	n/a
8	chr7:57881130-57881180	HRCEpiC	kidney:	n/a
9	chr7:57881130-57881180	HRE	kidney:	n/a
10	chr7:57881130-57881180	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:57881130-57881180	HEEpiC	esophagus:	n/a
12	chr7:57881100-57881150	NHDF-neo	bronchial:	n/a
13	chr7:57881130-57881180	NH-A	brain:	n/a
14	chr7:57881130-57881180	HEK293	kidney:	embryo
15	chr7:57881100-57881150	BJ	skin:	n/a
16	chr7:57881100-57881150	SAEC	small airway:	n/a
17	chr7:57880009-57880059	HIPEpiC	eye:	n/a
18	chr7:57881130-57881180	HCF	heart:	n/a
19	chr7:57880009-57880059	BJ	skin:	n/a
20	chr7:57881130-57881180	SK-N-SH	brain:	n/a
21	chr7:57880009-57880059	GM12892	blood:	n/a
22	chr7:57880009-57880059	NHDF-neo	bronchial:	n/a
23	chr7:57881130-57881180	MCF10A-Er-Src	breast:	n/a
24	chr7:57880009-57880059	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:57881130-57881180	Caco-2	colon:	n/a
26	chr7:57880009-57880059	SK-N-SH_RA	brain:	n/a
27	chr7:57881100-57881150	ovcar-3	ovarian:	n/a
28	chr7:57880009-57880059	ovcar-3	ovarian:	n/a
29	chr7:57880009-57880059	GM12891	blood:	n/a
30	chr7:57881130-57881180	NHDF-neo	bronchial:	n/a
31	chr7:57881100-57881150	HNPCEpiC	eye:	n/a
32	chr7:57881100-57881150	NB4	blood:	n/a
33	chr7:57881130-57881180	SKMC	muscle:	n/a
34	chr7:57881130-57881180	HNPCEpiC	eye:	n/a
35	chr7:57881130-57881180	HCPEpiC	choroid plexus:	n/a
36	chr7:57880009-57880059	U87	brain:	n/a
37	chr7:57881130-57881180	MCF-7	breast:	n/a
38	chr7:57881130-57881180	H1-hESC	embryonic stem cell:	embryo
39	chr7:57880009-57880059	ProgFib	skin:	n/a
40	chr7:57881100-57881150	HCF	heart:	n/a
41	chr7:57880009-57880059	CMK	blood:	n/a
42	chr7:57881130-57881180	AoSMC	blood vessel:	n/a
43	chr7:57881100-57881150	HEK293	kidney:	embryo
44	chr7:57880009-57880059	SK-N-MC	brain:	n/a
45	chr7:57881100-57881150	AoSMC	blood vessel:	n/a
46	chr7:57880009-57880059	ECC-1	luminal epithelium:	n/a
47	chr7:57881130-57881180	LNCaP	prostate:	n/a
48	chr7:57880009-57880059	Hepatocyte	liver:	n/a
49	chr7:57881100-57881150	K562	blood:	n/a
50	chr7:57881130-57881180	BE2_C	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-15	chr7:57879738-57880116	NONHSAT120878

No data

Variant related genes	Relation type
ENSG00000237236	TF binding region
ENSG00000224653	TF binding region
ENSG00000236907	TF binding region
ENSG00000223836	TF binding region
ENSG00000237236	CpG island
ENSG00000224653	CpG island
ENSG00000236907	CpG island
ENSG00000223836	CpG island

Extended variants
information (count: 200 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs556197475	chr7:57879301-57879302	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs185786467	chr7:57879308-57879309	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs535808273	chr7:57879329-57879330	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs117977982	chr7:57879341-57879342	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs200329430	chr7:57879343-57879344	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs572727336	chr7:57879347-57879348	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs117442418	chr7:57879396-57879397	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs528680770	chr7:57879423-57879424	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
9	rs2177801	chr7:57879430-57879431	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
10	rs368329599	chr7:57879453-57879454	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs113988537	chr7:57879454-57879455	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs372419735	chr7:57879458-57879459	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs113743330	chr7:57879480-57879481	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs202121794	chr7:57879482-57879483	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs191968051	chr7:57879483-57879484	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs111287501	chr7:57879495-57879496	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs543543821	chr7:57879503-57879504	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs112201773	chr7:57879509-57879510	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs561791768	chr7:57879516-57879517	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs141113367	chr7:57879519-57879520	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs547401972	chr7:57879521-57879522	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs559062734	chr7:57879524-57879525	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs112893760	chr7:57879527-57879528	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs535444716	chr7:57879542-57879543	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs375406603	chr7:57879556-57879557	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs73345671	chr7:57879564-57879565	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs540115426	chr7:57879575-57879576	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs371192676	chr7:57879576-57879577	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs374975824	chr7:57879584-57879585	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs369201495	chr7:57879588-57879589	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs550022074	chr7:57879591-57879592	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs568576372	chr7:57879592-57879593	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs535556656	chr7:57879593-57879594	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs554186822	chr7:57879594-57879595	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs572341946	chr7:57879595-57879596	ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs540148642	chr7:57879612-57879613	ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs373283754	chr7:57879634-57879635	ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs75068911	chr7:57879635-57879636	ZNF genes & repeats Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs375644510	chr7:57879651-57879652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558448440	chr7:57879653-57879654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576729435	chr7:57879655-57879656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369752575	chr7:57879658-57879659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181154843	chr7:57879696-57879697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573706726	chr7:57879708-57879709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540764398	chr7:57879731-57879732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138867885	chr7:57879767-57879768	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs13247300	chr7:57879770-57879771	ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377691765	chr7:57879782-57879783	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs370340405	chr7:57879795-57879796	ZNF genes & repeats Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs544906102	chr7:57879799-57879800	ZNF genes & repeats Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57877600-57883400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57878000-57880000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:57879400-57879600	Enhancers	K562	blood
4	chr7:57879400-57881000	ZNF genes & repeats	Gastric	stomach
5	chr7:57879600-57880800	Weak transcription	K562	blood
6	chr7:57880400-57881400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:57880800-57881200	Enhancers	K562	blood
8	chr7:57880800-57881400	ZNF genes & repeats	Spleen	Spleen
9	chr7:57881200-57881600	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links