Variant report

Variant	esv3419503
Chromosome Location	chr7:126735202-126735779
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	IRF3	chr7:126735273-126735279	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-1	chr7:126735719-126735864	NONHSAT123126

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34232632	chr7:126735216-126735217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148992376	chr7:126735261-126735262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555923214	chr7:126735274-126735275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577561587	chr7:126735283-126735284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192363661	chr7:126735317-126735318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543996974	chr7:126735323-126735324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528099912	chr7:126735331-126735332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547743162	chr7:126735333-126735334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538586824	chr7:126735379-126735380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553638602	chr7:126735391-126735392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561104835	chr7:126735472-126735473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74930531	chr7:126735476-126735477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542438496	chr7:126735482-126735483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2023641	chr7:126735486-126735487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576470444	chr7:126735537-126735538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543889605	chr7:126735541-126735542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17864959	chr7:126735553-126735554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532521332	chr7:126735584-126735585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148015697	chr7:126735695-126735696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546470060	chr7:126735705-126735706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375438864	chr7:126735761-126735762	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs548807254	chr7:126735769-126735770	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126735200-126742400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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