Variant report

Variant	esv274967
Chromosome Location	chr7:63437995-63445066
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	BACH1	chr7:63444986-63445142	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:63443124-63443155	Medullo	brain:	n/a	n/a
3	POLR2A	chr7:63439299-63439315	GM12878	blood:	n/a	n/a
4	RFX5	chr7:63440145-63440188	K562	blood:	n/a	n/a
5	SMC3	chr7:63440771-63440780	GM12878	blood:	n/a	n/a
6	STAT3	chr7:63439341-63439545	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63439934..63442884-chr7:63443122..63445565,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176232	TF binding region
ENSG00000176232	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563791528	chr7:63443174-63443175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529266848	chr7:63443187-63443188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114499175	chr7:63443236-63443237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190554890	chr7:63443248-63443249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534497184	chr7:63443256-63443257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138112310	chr7:63443273-63443274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552061590	chr7:63443382-63443383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541387784	chr7:63443444-63443445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571704543	chr7:63443454-63443455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537270124	chr7:63443505-63443506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2118860	chr7:63443519-63443520	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569396939	chr7:63443626-63443627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542228802	chr7:63443640-63443641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535201833	chr7:63443649-63443650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555064143	chr7:63443661-63443662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572046284	chr7:63443669-63443670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534572375	chr7:63443803-63443804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558034742	chr7:63443847-63443848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577733220	chr7:63443879-63443880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144126169	chr7:63443885-63443886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561445751	chr7:63443892-63443893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377017957	chr7:63443952-63443953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148681472	chr7:63444008-63444009	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574180690	chr7:63444017-63444018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563499486	chr7:63444067-63444068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377323768	chr7:63444130-63444131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559449727	chr7:63444155-63444156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578006774	chr7:63444157-63444158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182429341	chr7:63444169-63444170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371449414	chr7:63444193-63444194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9969231	chr7:63444226-63444227	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34641254	chr7:63444234-63444235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56068860	chr7:63444254-63444255	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187110242	chr7:63444263-63444264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1583720	chr7:63444292-63444293	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549255041	chr7:63444364-63444365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535166765	chr7:63444399-63444400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549070209	chr7:63444427-63444428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142231924	chr7:63444430-63444431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531352747	chr7:63444443-63444444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113809777	chr7:63444450-63444451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557731737	chr7:63444478-63444479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191218967	chr7:63444487-63444488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537393430	chr7:63444538-63444539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1583721	chr7:63444577-63444578	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs112763299	chr7:63444594-63444595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573892667	chr7:63444619-63444620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs28793387	chr7:63444628-63444629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546313638	chr7:63444684-63444685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543099080	chr7:63444774-63444775	Inactive region	Chromatin interactive region	1 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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	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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