Variant report

Variant	esv3327508
Chromosome Location	chr7:126678741-126681489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126678600-126685844..7:127009457-127018926	H1-hESC	embryonic stem cell:	embryo
2	7:126678600-126685844..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
3	7:126678600-126685844..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
4	7:126085913-126088095..7:126678600-126685844	K562	blood:

Variant related genes	Relation type
ENSG00000106328	chromatin interactions
ENSG00000048405	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000179562	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567610633	chr7:126678750-126678751	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs3808127	chr7:126678820-126678821	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182128613	chr7:126678821-126678822	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs139897260	chr7:126678838-126678839	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs143787666	chr7:126678893-126678894	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs377664275	chr7:126678960-126678961	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs35654638	chr7:126678973-126678974	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs147328444	chr7:126679110-126679111	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs570006064	chr7:126679113-126679114	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs559679838	chr7:126679139-126679140	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs537842661	chr7:126679199-126679200	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs17866101	chr7:126679210-126679211	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548487676	chr7:126679218-126679219	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs569974481	chr7:126679320-126679321	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs116139619	chr7:126679321-126679322	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs17864955	chr7:126679364-126679365	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535710234	chr7:126679380-126679381	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs144873546	chr7:126679382-126679383	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs538704204	chr7:126679413-126679414	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs17875006	chr7:126679419-126679420	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs17875169	chr7:126679448-126679449	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs375549394	chr7:126679459-126679460	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs145801581	chr7:126679479-126679480	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs17866946	chr7:126679493-126679494	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17867387	chr7:126679523-126679524	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554903856	chr7:126679682-126679683	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs576399182	chr7:126679749-126679750	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs543294887	chr7:126679771-126679772	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565078860	chr7:126679772-126679773	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs13245675	chr7:126679800-126679801	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs113097937	chr7:126679848-126679849	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs565642154	chr7:126679922-126679923	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs541539158	chr7:126679965-126679966	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs74192055	chr7:126680036-126680037	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573629478	chr7:126680044-126680045	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs559554798	chr7:126680057-126680058	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs530046599	chr7:126680084-126680085	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs192256396	chr7:126680130-126680131	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs4728061	chr7:126680134-126680135	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6961738	chr7:126680143-126680144	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs148437861	chr7:126680251-126680252	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs142571520	chr7:126680283-126680284	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs563686892	chr7:126680286-126680287	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs150950051	chr7:126680344-126680345	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs552525231	chr7:126680380-126680381	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs192726872	chr7:126680414-126680415	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs534870785	chr7:126680433-126680434	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs140802368	chr7:126680456-126680457	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs4728062	chr7:126680500-126680501	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536297082	chr7:126680504-126680505	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126676600-126682000	Weak transcription	Liver	Liver

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