Variant report

Variant	esv3393029
Chromosome Location	chr7:63015542-63018090
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	chr7:63018027-63018106	GM12891	blood:	n/a	chr7:63018055-63018063
2	CTCF	chr7:63018014-63018068	Spleen_OC	spleen:	n/a	chr7:63018055-63018063
3	CTCF	chr7:63017974-63018089	GM12878	blood:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
4	CTCF	chr7:63018001-63018009	GM12891	blood:	n/a	n/a
5	CTCF	chr7:63017130-63017163	GM10248	blood:	n/a	n/a
6	CTCF	chr7:63017951-63018108	K562	blood:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
7	CTCF	chr7:63017882-63018076	K562	blood:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997 chr7:63017924-63017937
8	CTCF	chr7:63017973-63018009	LNCaP	prostate:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
9	CTCF	chr7:63017940-63018096	H1-hESC	embryonic stem cell:	n/a	chr7:63017977-63017998 chr7:63017985-63017995 chr7:63017982-63018000 chr7:63018055-63018063 chr7:63017988-63017997 chr7:63017983-63017999 chr7:63017984-63017997
10	POLR2A	chr7:63016239-63016443	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63016104-63016154	NB4	blood:	n/a
2	chr7:63016102-63016152	GM12878	blood:	n/a
3	chr7:63016102-63016152	AG04450	lung:	fetal
4	chr7:63016648-63016698	GM12891	blood:	n/a
5	chr7:63016104-63016154	MCF-7	breast:	n/a
6	chr7:63016835-63016885	AG10803	skin:	n/a
7	chr7:63016648-63016698	NHDF-neo	bronchial:	n/a
8	chr7:63016835-63016885	GM12891	blood:	n/a
9	chr7:63016102-63016152	AG09319	gingival:	n/a
10	chr7:63016648-63016698	NB4	blood:	n/a
11	chr7:63016102-63016152	HIPEpiC	eye:	n/a
12	chr7:63016102-63016152	IMR90	lung:	fetal
13	chr7:63016102-63016152	HCPEpiC	choroid plexus:	n/a
14	chr7:63016104-63016154	GM19239	blood:	n/a
15	chr7:63016648-63016698	HRCEpiC	kidney:	n/a
16	chr7:63016835-63016885	GM19239	blood:	n/a
17	chr7:63016835-63016885	HRPEpiC	eye:	n/a
18	chr7:63016648-63016698	AG09309	skin:	n/a
19	chr7:63016104-63016154	IMR90	lung:	fetal
20	chr7:63016102-63016152	Jurkat	blood:	n/a
21	chr7:63016102-63016152	HCM	heart:	n/a
22	chr7:63016835-63016885	HCF	heart:	n/a
23	chr7:63016102-63016152	HEEpiC	esophagus:	n/a
24	chr7:63016102-63016152	NHBE	bronchial:	n/a
25	chr7:63016104-63016154	HAEpiC	amniotic membrane:	n/a
26	chr7:63016104-63016154	HRPEpiC	eye:	n/a
27	chr7:63016102-63016152	SKMC	muscle:	n/a
28	chr7:63016835-63016885	ECC-1	luminal epithelium:	n/a
29	chr7:63016648-63016698	HRE	kidney:	n/a
30	chr7:63016835-63016885	SK-N-MC	brain:	n/a
31	chr7:63016835-63016885	BJ	skin:	n/a
32	chr7:63016102-63016152	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:63016102-63016152	NH-A	brain:	n/a
34	chr7:63016104-63016154	AG09319	gingival:	n/a
35	chr7:63016835-63016885	GM12878	blood:	n/a
36	chr7:63016835-63016885	HepG2	liver:	n/a
37	chr7:63016835-63016885	H1-hESC	embryonic stem cell:	embryo
38	chr7:63016648-63016698	NHBE	bronchial:	n/a
39	chr7:63016102-63016152	H1-hESC	embryonic stem cell:	embryo
40	chr7:63016102-63016152	AG04449	skin:	fetal
41	chr7:63016104-63016154	AG09309	skin:	n/a
42	chr7:63016104-63016154	AG10803	skin:	n/a
43	chr7:63016835-63016885	HEK293	kidney:	embryo
44	chr7:63016835-63016885	HCPEpiC	choroid plexus:	n/a
45	chr7:63016835-63016885	PrEC	prostate:	n/a
46	chr7:63016648-63016698	BJ	skin:	n/a
47	chr7:63016102-63016152	NT2-D1	testis:	n/a
48	chr7:63016648-63016698	T-47D	breast:	n/a
49	chr7:63016835-63016885	IMR90	lung:	fetal
50	chr7:63016104-63016154	HL-60	blood:	n/a

Variant related genes	Relation type
SLC29A4P2	TF binding region
SLC29A4P2	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151295693	chr7:63016103-63016104	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs530964486	chr7:63016113-63016114	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs138696627	chr7:63016132-63016133	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs371320030	chr7:63016133-63016134	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs114529525	chr7:63016145-63016146	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs190919869	chr7:63016150-63016151	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs535619568	chr7:63016247-63016248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549407482	chr7:63016269-63016270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377623877	chr7:63016279-63016280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370701031	chr7:63016303-63016304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566149696	chr7:63016336-63016337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535193168	chr7:63016343-63016344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558364019	chr7:63016348-63016349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs7811041	chr7:63016349-63016350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs578259029	chr7:63016352-63016353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537734012	chr7:63016436-63016437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	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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