Variant report

Variant	nsv970489
Chromosome Location	chr7:57077970-57088768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57086809-57087078	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57087017-57087030 chr7:57086957-57086966 chr7:57086891-57086899
2	CTCF	chr7:57082138-57082223	K562	blood:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
3	CTCF	chr7:57078010-57078065	GM13976	blood:	n/a	n/a
4	CTCF	chr7:57082117-57082231	MCF-7	breast:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
5	CTCF	chr7:57082332-57082393	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr7:57085637-57085664	Lung_OC	lung:	n/a	n/a
7	CTCF	chr7:57086810-57087049	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57087017-57087030 chr7:57086957-57086966 chr7:57086891-57086899
8	CTCF	chr7:57086890-57086982	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57086957-57086966 chr7:57086891-57086899
9	CTCF	chr7:57082060-57082210	WERI-Rb-1	eye:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
10	CTCF	chr7:57086880-57087001	GM12891	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57086957-57086966 chr7:57086891-57086899
11	FOSL2	chr7:57079567-57080014	HepG2	liver:	n/a	chr7:57079680-57079694
12	MYC	chr7:57080686-57080728	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr7:57081503-57081648	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr7:57083395-57083430	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:57080877-57080931	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:57088476-57088680	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr7:57082394-57082508	HepG2	liver:	n/a	chr7:57082462-57082473

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57078300-57078350	PrEC	prostate:	n/a
2	chr7:57078300-57078350	PrEC	prostate:	n/a
3	chr7:57078300-57078350	GM19239	blood:	n/a
4	chr7:57085312-57085362	MCF10A-Er-Src	breast:	n/a
5	chr7:57084268-57084318	HAEpiC	amniotic membrane:	n/a
6	chr7:57085312-57085362	ECC-1	luminal epithelium:	n/a
7	chr7:57080792-57080842	AG09309	skin:	n/a
8	chr7:57085312-57085362	RPTEC	kidney:	n/a
9	chr7:57085312-57085362	HEEpiC	esophagus:	n/a
10	chr7:57084196-57084246	HMEC	breast:	n/a
11	chr7:57084268-57084318	RPTEC	kidney:	n/a
12	chr7:57084196-57084246	MCF10A-Er-Src	breast:	n/a
13	chr7:57080792-57080842	HepG2	liver:	n/a
14	chr7:57078300-57078350	SK-N-MC	brain:	n/a
15	chr7:57080792-57080842	HNPCEpiC	eye:	n/a
16	chr7:57085312-57085362	HEK293	kidney:	embryo
17	chr7:57083938-57083988	HRPEpiC	eye:	n/a
18	chr7:57078300-57078350	HepG2	liver:	n/a
19	chr7:57088140-57088190	BE2_C	brain:	n/a
20	chr7:57078300-57078350	NHDF-neo	bronchial:	n/a
21	chr7:57084268-57084318	BJ	skin:	n/a
22	chr7:57078300-57078350	LNCaP	prostate:	n/a
23	chr7:57084196-57084246	AG09309	skin:	n/a
24	chr7:57084268-57084318	HCM	heart:	n/a
25	chr7:57078300-57078350	AG09319	gingival:	n/a
26	chr7:57080792-57080842	Hela-S3	cervix:	n/a
27	chr7:57085312-57085362	HAEpiC	amniotic membrane:	n/a
28	chr7:57080792-57080842	NT2-D1	testis:	n/a
29	chr7:57080792-57080842	H1-hESC	embryonic stem cell:	embryo
30	chr7:57084268-57084318	ECC-1	luminal epithelium:	n/a
31	chr7:57084196-57084246	GM12878	blood:	n/a
32	chr7:57081248-57081298	HCPEpiC	choroid plexus:	n/a
33	chr7:57083938-57083988	CMK	blood:	n/a
34	chr7:57081248-57081298	HEK293	kidney:	embryo
35	chr7:57084268-57084318	HMEC	breast:	n/a
36	chr7:57078300-57078350	HRCEpiC	kidney:	n/a
37	chr7:57085312-57085362	GM12891	blood:	n/a
38	chr7:57080792-57080842	BE2_C	brain:	n/a
39	chr7:57088140-57088190	ovcar-3	ovarian:	n/a
40	chr7:57085312-57085362	HMEC	breast:	n/a
41	chr7:57084268-57084318	U87	brain:	n/a
42	chr7:57088140-57088190	HCM	heart:	n/a
43	chr7:57080792-57080842	SK-N-SH_RA	brain:	n/a
44	chr7:57085312-57085362	K562	blood:	n/a
45	chr7:57080792-57080842	AG10803	skin:	n/a
46	chr7:57078300-57078350	SAEC	small airway:	n/a
47	chr7:57080792-57080842	SKMC	muscle:	n/a
48	chr7:57080792-57080842	HCM	heart:	n/a
49	chr7:57078300-57078350	NT2-D1	testis:	n/a
50	chr7:57084196-57084246	HL-60	blood:	n/a

Variant related genes	Relation type
SLC29A4P1	TF binding region
SLC29A4P1	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2685752	chr7:57088155-57088156	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs188249636	chr7:57088508-57088509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529048487	chr7:57088567-57088568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547314506	chr7:57088591-57088592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565621315	chr7:57088618-57088619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192956312	chr7:57088655-57088656	Inactive region	TF binding region	1 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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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