Variant report

Variant	esv3443987
Chromosome Location	chr7:96740514-96742070
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	GATA3	chr7:96740648-96740679	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr7:96741084-96741197	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96736408..96740699-chr7:96743724..96748625,6	K562	blood:

Variant related genes	Relation type
ACN9	TF binding region
ENSG00000196636	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116542711	chr7:96740535-96740536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142500684	chr7:96740670-96740671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557327932	chr7:96740684-96740685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180730488	chr7:96741119-96741120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147950387	chr7:96741122-96741123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186364366	chr7:96741130-96741131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190717850	chr7:96741138-96741139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560355697	chr7:96741139-96741140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182014596	chr7:96741167-96741168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73233819	chr7:96741196-96741197	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149018466	chr7:96741203-96741204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537583058	chr7:96741208-96741209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548149913	chr7:96741238-96741239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568000494	chr7:96741255-96741256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536516647	chr7:96741275-96741276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186720288	chr7:96741303-96741304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553276534	chr7:96741317-96741318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531421603	chr7:96741839-96741840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531484006	chr7:96741867-96741868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562668103	chr7:96741938-96741939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549729666	chr7:96741948-96741949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373714564	chr7:96741952-96741953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114795615	chr7:96741965-96741966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77971754	chr7:96742068-96742069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96741200-96741400	Enhancers	Fetal Brain Male	brain
2	chr7:96741800-96745600	Weak transcription	Fetal Brain Male	brain

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