Variant report

Variant	esv3356893
Chromosome Location	chr7:62809142-62811690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
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	CTCF	chr7:62811395-62811459	GM20000	blood:	n/a	n/a
2	MYC	chr7:62809338-62809416	MCF-7	breast:	n/a	n/a
3	MYC	chr7:62811293-62811308	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr7:62810159-62810165	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:62809356-62809359	A549	lung:	n/a	n/a
6	POLR2A	chr7:62809238-62809262	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:62809350-62809425	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:62809224-62809438	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:62809681-62809870	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:62809362-62809489	A549	lung:	n/a	n/a
11	POLR2A	chr7:62808941-62809206	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:62810019-62810156	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:62809264-62809329	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62809620-62809670	GM06990	blood:	n/a
2	chr7:62809331-62809381	HL-60	blood:	n/a
3	chr7:62809373-62809423	SK-N-SH	brain:	n/a
4	chr7:62809620-62809670	BJ	skin:	n/a
5	chr7:62809331-62809381	HEK293	kidney:	embryo
6	chr7:62809321-62809371	LNCaP	prostate:	n/a
7	chr7:62809373-62809423	IMR90	lung:	fetal
8	chr7:62809331-62809381	HMEC	breast:	n/a
9	chr7:62809620-62809670	HEEpiC	esophagus:	n/a
10	chr7:62809373-62809423	GM12891	blood:	n/a
11	chr7:62809331-62809381	HAEpiC	amniotic membrane:	n/a
12	chr7:62809321-62809371	HL-60	blood:	n/a
13	chr7:62809620-62809670	HEK293	kidney:	embryo
14	chr7:62809321-62809371	PrEC	prostate:	n/a
15	chr7:62809321-62809371	AG09319	gingival:	n/a
16	chr7:62809373-62809423	HCPEpiC	choroid plexus:	n/a
17	chr7:62809331-62809381	AG04449	skin:	fetal
18	chr7:62809321-62809371	Caco-2	colon:	n/a
19	chr7:62809373-62809423	SKMC	muscle:	n/a
20	chr7:62809373-62809423	GM12892	blood:	n/a
21	chr7:62809331-62809381	CMK	blood:	n/a
22	chr7:62809373-62809423	ECC-1	luminal epithelium:	n/a
23	chr7:62809321-62809371	HMEC	breast:	n/a
24	chr7:62809620-62809670	A549	lung:	n/a
25	chr7:62809620-62809670	H1-hESC	embryonic stem cell:	embryo
26	chr7:62809321-62809371	GM19239	blood:	n/a
27	chr7:62809331-62809381	PrEC	prostate:	n/a
28	chr7:62809331-62809381	HEEpiC	esophagus:	n/a
29	chr7:62809321-62809371	HCT-116	colon:	n/a
30	chr7:62809373-62809423	HL-60	blood:	n/a
31	chr7:62809620-62809670	IMR90	lung:	fetal
32	chr7:62809620-62809670	T-47D	breast:	n/a
33	chr7:62809321-62809371	HepG2	liver:	n/a
34	chr7:62809373-62809423	PFSK-1	brain:	n/a
35	chr7:62809620-62809670	ProgFib	skin:	n/a
36	chr7:62809321-62809371	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:62809331-62809381	SKMC	muscle:	n/a
38	chr7:62809321-62809371	H1-hESC	embryonic stem cell:	embryo
39	chr7:62809373-62809423	ProgFib	skin:	n/a
40	chr7:62809321-62809371	SAEC	small airway:	n/a
41	chr7:62809620-62809670	Caco-2	colon:	n/a
42	chr7:62809331-62809381	HRCEpiC	kidney:	n/a
43	chr7:62809321-62809371	ProgFib	skin:	n/a
44	chr7:62809321-62809371	NHDF-neo	bronchial:	n/a
45	chr7:62809373-62809423	Jurkat	blood:	n/a
46	chr7:62809321-62809371	CMK	blood:	n/a
47	chr7:62809373-62809423	HRE	kidney:	n/a
48	chr7:62809321-62809371	NHBE	bronchial:	n/a
49	chr7:62809620-62809670	Hepatocyte	liver:	n/a
50	chr7:62809620-62809670	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000227545	TF binding region
ENSG00000229301	TF binding region
ENSG00000227923	TF binding region
ENSG00000230000	TF binding region
ENSG00000227545	CpG island
ENSG00000229301	CpG island
ENSG00000227923	CpG island
ENSG00000230000	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565349835	chr7:62809416-62809417	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs573765902	chr7:62809629-62809630	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs542960058	chr7:62809633-62809634	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs376531216	chr7:62809688-62809689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528497830	chr7:62809694-62809695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545384399	chr7:62809703-62809704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565275471	chr7:62809705-62809706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62474335	chr7:62809706-62809707	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2241017	chr7:62809778-62809779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546909030	chr7:62810030-62810031	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs2241018	chr7:62810031-62810032	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs534154409	chr7:62810072-62810073	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

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

No data

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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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