Variant report

Variant	esv3421399
Chromosome Location	chr7:104463916-104466264
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	GATA1	chr7:104465552-104466314	PBDE	blood:	n/a	chr7:104465684-104465693
2	GATA1	chr7:104463982-104464388	PBDE	blood:	n/a	n/a
3	NFYB	chr7:104466150-104466195	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:104464239-104464373	K562	blood:	n/a	n/a
5	REST	chr7:104466036-104466251	K562	blood:	n/a	n/a
6	REST	chr7:104466043-104466209	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF274	chr7:104465157-104465877	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:

Variant related genes	Relation type
ENSG00000237606	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540881610	chr7:104463950-104463951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530222874	chr7:104463954-104463955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201863525	chr7:104463955-104463956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560629500	chr7:104463973-104463974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140493848	chr7:104463974-104463975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562501006	chr7:104463977-104463978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567849979	chr7:104464004-104464005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534757470	chr7:104464031-104464032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530515051	chr7:104464062-104464063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546672838	chr7:104464091-104464092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs531587953	chr7:104464113-104464114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550311034	chr7:104464122-104464123	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73181896	chr7:104464138-104464139	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147048728	chr7:104464158-104464159	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs76813664	chr7:104464161-104464162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375202640	chr7:104464172-104464173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557243857	chr7:104464178-104464179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535769316	chr7:104464182-104464183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551332516	chr7:104464184-104464185	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555460238	chr7:104464222-104464223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575634476	chr7:104464233-104464234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538338502	chr7:104464234-104464235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs79945153	chr7:104464237-104464238	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs569550847	chr7:104464275-104464276	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142323899	chr7:104464345-104464346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569085207	chr7:104464383-104464384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574227339	chr7:104464385-104464386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs386716465	chr7:104464447-104464448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11764774	chr7:104464448-104464449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530429911	chr7:104464457-104464458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543865825	chr7:104464471-104464472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112228846	chr7:104464497-104464498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532935137	chr7:104464542-104464543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546456881	chr7:104464544-104464545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566694306	chr7:104464549-104464550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185413655	chr7:104464582-104464583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555208766	chr7:104464600-104464601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371508773	chr7:104464601-104464602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200165291	chr7:104464602-104464603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549305235	chr7:104464608-104464609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13226213	chr7:104464615-104464616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13238937	chr7:104464616-104464617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375239104	chr7:104464621-104464622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13226215	chr7:104464622-104464623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374701538	chr7:104464623-104464624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371531548	chr7:104464631-104464632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10637909	chr7:104464632-104464633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13226217	chr7:104464633-104464634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368380378	chr7:104464639-104464640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7804487	chr7:104464640-104464641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104460400-104465600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:104461000-104470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:104461400-104465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:104461800-104465000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:104462800-104467000	Weak transcription	Fetal Heart	heart
7	chr7:104465600-104465800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:104465600-104466000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:104465600-104466200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:104466000-104486800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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