Variant report

Variant	esv3406708
Chromosome Location	chr7:112744141-112746689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112741179..112744452-chr7:112757394..112760134,3	K562	blood:
2	chr7:112737881..112740697-chr7:112741857..112744410,3	K562	blood:
3	chr7:112737881..112740697-chr7:112741857..112745616,3	K562	blood:
4	chr7:112744397..112746764-chr7:112748583..112750338,2	MCF-7	breast:
5	chr7:112744968..112747353-chr7:112748372..112751369,2	K562	blood:

Variant related genes	Relation type
ENSG00000214194	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368613567	chr7:112744199-112744200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs60525932	chr7:112744207-112744208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76771843	chr7:112744214-112744215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77191240	chr7:112744215-112744216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545111442	chr7:112744225-112744226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574336785	chr7:112744284-112744285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182733648	chr7:112744294-112744295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188108589	chr7:112744326-112744327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559913636	chr7:112744363-112744364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs137941764	chr7:112744385-112744386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527843680	chr7:112744421-112744422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142392537	chr7:112744432-112744433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192898203	chr7:112744438-112744439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151312757	chr7:112744517-112744518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550491240	chr7:112744518-112744519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568360137	chr7:112744522-112744523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532197968	chr7:112744547-112744548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35917735	chr7:112744560-112744561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397965135	chr7:112744576-112744577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547899212	chr7:112744597-112744598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185362810	chr7:112744613-112744614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533948874	chr7:112744777-112744778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552309308	chr7:112744778-112744779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115010236	chr7:112744804-112744805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199717569	chr7:112744807-112744808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146985202	chr7:112744811-112744812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376016113	chr7:112744812-112744813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112636575	chr7:112744814-112744815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141638108	chr7:112744867-112744868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187396262	chr7:112744883-112744884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191930732	chr7:112744910-112744911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573069160	chr7:112744939-112744940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559786788	chr7:112745025-112745026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62488678	chr7:112745026-112745027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114513543	chr7:112745036-112745037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2462664	chr7:112745043-112745044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7786391	chr7:112745066-112745067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531980391	chr7:112745076-112745077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550185872	chr7:112745116-112745117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562442261	chr7:112745119-112745120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375186977	chr7:112745127-112745128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7803528	chr7:112745186-112745187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547835950	chr7:112745333-112745334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566134262	chr7:112745393-112745394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145410089	chr7:112745402-112745403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202033556	chr7:112745408-112745409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551895832	chr7:112745441-112745442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58698960	chr7:112745446-112745447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140256349	chr7:112745448-112745449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397767909	chr7:112745480-112745481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112740400-112756000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:112740600-112753200	Weak transcription	K562	blood
3	chr7:112740600-112757600	Weak transcription	Right Atrium	heart
4	chr7:112740600-112758000	Weak transcription	Aorta	Aorta
5	chr7:112741000-112757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:112743000-112757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:112743400-112748200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:112743400-112749600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:112743400-112754200	Weak transcription	Fetal Heart	heart
10	chr7:112746400-112753200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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