Variant report

Variant	esv12576
Chromosome Location	chr7:124113222-124117647
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	GABPA	chr7:124116741-124116897	Hela-S3	cervix:	n/a	n/a
2	MYC	chr7:124116467-124116473	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:124116401-124116445	A549	lung:	n/a	n/a
4	USF1	chr7:124116723-124116924	HepG2	liver:	n/a	chr7:124116824-124116835

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124116352..124119655-chr7:124119768..124122495,3	MCF-7	breast:

Variant related genes	Relation type
SSU72P8	TF binding region
ENSG00000213296	TF binding region
ENSG00000213296	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370730066	chr7:124116391-124116392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374060156	chr7:124116406-124116407	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533263883	chr7:124116407-124116408	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375865531	chr7:124116415-124116416	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs61732361	chr7:124116419-124116420	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370166332	chr7:124116424-124116425	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569477046	chr7:124116427-124116428	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2402730	chr7:124116470-124116471	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs367693653	chr7:124116495-124116496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139129286	chr7:124116519-124116520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565621325	chr7:124116522-124116523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372901475	chr7:124116524-124116525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201786412	chr7:124116525-124116526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368586120	chr7:124116532-124116533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557462267	chr7:124116563-124116564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372276544	chr7:124116614-124116615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376867376	chr7:124116622-124116623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369033774	chr7:124116640-124116641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61730753	chr7:124116647-124116648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187262389	chr7:124116655-124116656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61730752	chr7:124116657-124116658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192017201	chr7:124116660-124116661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375955694	chr7:124116688-124116689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182546409	chr7:124116694-124116695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61730746	chr7:124116733-124116734	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61732883	chr7:124116735-124116736	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112656682	chr7:124116738-124116739	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548676684	chr7:124116739-124116740	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61730745	chr7:124116764-124116765	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527981837	chr7:124116765-124116766	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374005964	chr7:124116771-124116772	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376891502	chr7:124116779-124116780	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369575053	chr7:124116830-124116831	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61730744	chr7:124116848-124116849	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2402731	chr7:124116864-124116865	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61730737	chr7:124116870-124116871	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186676332	chr7:124116886-124116887	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572164124	chr7:124116913-124116914	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373001008	chr7:124116919-124116920	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375974424	chr7:124116922-124116923	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370582418	chr7:124116923-124116924	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542140298	chr7:124116947-124116948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377054305	chr7:124116994-124116995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147891434	chr7:124116995-124116996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372788430	chr7:124117025-124117026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370127255	chr7:124117038-124117039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377168928	chr7:124117039-124117040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190830843	chr7:124117114-124117115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10954027	chr7:124117143-124117144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11764127	chr7:124117156-124117157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	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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