Variant report

Variant	nsv970490
Chromosome Location	chr7:57252783-57266304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57253983-57254242	GM12878	blood:	n/a	n/a
2	BATF	chr7:57254005-57254200	GM12878	blood:	n/a	n/a
3	BCL11A	chr7:57253993-57254172	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:57254013-57254149	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:57253991-57254170	HepG2	liver:	n/a	n/a
6	BHLHE40	chr7:57255135-57255352	HepG2	liver:	n/a	n/a
7	CTCF	chr7:57254061-57254115	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:57265546-57265566	GM10266	blood:	n/a	n/a
9	CTCF	chr7:57254111-57254116	GM19239	blood:	n/a	n/a
10	CTCF	chr7:57254039-57254107	HepG2	liver:	n/a	n/a
11	CTCF	chr7:57254080-57254115	GM19240	blood:	n/a	n/a
12	FOSL2	chr7:57253997-57254167	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:57253967-57254193	HepG2	liver:	n/a	n/a
14	GABPA	chr7:57253943-57254159	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr7:57254032-57254131	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr7:57254022-57254135	HepG2	liver:	n/a	n/a
17	HEY1	chr7:57253989-57254171	HepG2	liver:	n/a	n/a
18	MAFK	chr7:57255428-57255629	HepG2	liver:	n/a	n/a
19	MYC	chr7:57254080-57254116	HUVEC	blood vessel:	n/a	n/a
20	MYC	chr7:57254079-57254117	HepG2	liver:	n/a	n/a
21	PBX3	chr7:57254029-57254131	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:57259453-57259499	Gliobla	brain:	n/a	n/a
23	POLR2A	chr7:57254079-57254115	K562	blood:	n/a	n/a
24	POLR2A	chr7:57253997-57254145	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:57253986-57254210	Gliobla	brain:	n/a	n/a
26	POLR2A	chr7:57253999-57254213	Hela-S3	cervix:	n/a	n/a
27	RXRA	chr7:57253978-57254157	HepG2	liver:	n/a	n/a
28	RXRA	chr7:57253969-57254191	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr7:57254009-57254151	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr7:57255307-57255389	HepG2	liver:	n/a	n/a
31	SIX5	chr7:57253994-57254170	K562	blood:	n/a	n/a
32	SIX5	chr7:57253966-57254179	GM12878	blood:	n/a	n/a
33	SIX5	chr7:57255201-57255487	GM12878	blood:	n/a	n/a
34	SP1	chr7:57254045-57254115	HepG2	liver:	n/a	n/a
35	SP1	chr7:57253983-57254213	GM12878	blood:	n/a	n/a
36	SPI1	chr7:57254001-57254155	GM12878	blood:	n/a	n/a
37	SPI1	chr7:57253987-57254143	K562	blood:	n/a	n/a
38	TAF1	chr7:57253992-57254143	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr7:57254005-57254155	Hela-S3	cervix:	n/a	n/a
40	TCF12	chr7:57253980-57254157	HepG2	liver:	n/a	n/a
41	USF1	chr7:57254030-57254131	HepG2	liver:	n/a	n/a
42	ZBTB33	chr7:57253959-57254200	HepG2	liver:	n/a	n/a
43	ZBTB33	chr7:57253974-57254187	GM12878	blood:	n/a	n/a
44	ZBTB33	chr7:57253925-57254175	GM12878	blood:	n/a	n/a
45	ZBTB33	chr7:57254032-57254129	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000228851	TF binding region
MTND4P5	TF binding region
MTND1P4	TF binding region
ENSG00000236692	TF binding region
ENSG00000234671	TF binding region
MTND5P7	TF binding region
MTND2P6	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557562311	chr7:57253959-57253960	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs575772411	chr7:57253960-57253961	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs111995979	chr7:57254025-57254026	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs555314258	chr7:57254046-57254047	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs368658678	chr7:57254065-57254066	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs79444885	chr7:57254078-57254079	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs139336180	chr7:57254121-57254122	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs564862990	chr7:57254156-57254157	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs569869756	chr7:57254173-57254174	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs184968965	chr7:57254187-57254188	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs144264343	chr7:57254205-57254206	ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs116066478	chr7:57254249-57254250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530588073	chr7:57254268-57254269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548324873	chr7:57254272-57254273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs566476405	chr7:57254317-57254318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531077184	chr7:57254348-57254349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527572133	chr7:57254355-57254356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190177415	chr7:57254387-57254388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551303825	chr7:57254437-57254438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571286315	chr7:57254440-57254441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538997666	chr7:57254443-57254444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370198475	chr7:57254447-57254448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569296506	chr7:57254499-57254500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76140698	chr7:57254500-57254501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146581320	chr7:57254579-57254580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs56953870	chr7:57254613-57254614	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540910538	chr7:57254623-57254624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28439086	chr7:57254640-57254641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4870630	chr7:57254647-57254648	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs140002093	chr7:57254666-57254667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562452944	chr7:57254697-57254698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs193204794	chr7:57255142-57255143	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs546715197	chr7:57255215-57255216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs567046520	chr7:57255282-57255283	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs534362144	chr7:57255308-57255309	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs565472502	chr7:57255312-57255313	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs13227085	chr7:57255375-57255376	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs13245558	chr7:57255380-57255381	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs559306554	chr7:57255384-57255385	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs558753524	chr7:57255396-57255397	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs376882173	chr7:57255397-57255398	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs201614368	chr7:57255401-57255402	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs554621767	chr7:57255409-57255410	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs574549631	chr7:57255420-57255421	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs13227190	chr7:57255423-57255424	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs13234984	chr7:57255425-57255426	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs537444971	chr7:57255429-57255430	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs532637048	chr7:57255486-57255487	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs199774495	chr7:57255498-57255499	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs536811372	chr7:57255566-57255567	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57254000-57254800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57254400-57254600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57262200-57262800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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