Variant report

Variant	esv3386561
Chromosome Location	chr6:87852-91150
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	BATF	chr6:91090-91367	GM12878	blood:	n/a	n/a
2	BATF	chr6:90689-90981	GM12878	blood:	n/a	n/a
3	CTCF	chr6:90720-90870	RPTEC	kidney:	n/a	n/a
4	CTCF	chr6:90697-90988	A549	lung:	n/a	chr6:90883-90904
5	CTCF	chr6:90720-90870	AG10803	skin:	n/a	n/a
6	CTCF	chr6:90830-91015	K562	blood:	n/a	chr6:90883-90904
7	CTCF	chr6:90677-91036	K562	blood:	n/a	chr6:90883-90904
8	CTCF	chr6:90680-90830	K562	blood:	n/a	n/a
9	CTCF	chr6:90829-90895	HepG2	liver:	n/a	n/a
10	CTCF	chr6:90765-91025	K562	blood:	n/a	chr6:90883-90904
11	CTCF	chr6:90817-91027	GM12878	blood:	n/a	chr6:90883-90904
12	CTCF	chr6:90700-90850	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr6:90700-90850	RPTEC	kidney:	n/a	n/a
14	CTCF	chr6:90663-91014	A549	lung:	n/a	chr6:90883-90904
15	CTCF	chr6:90715-91021	A549	lung:	n/a	chr6:90883-90904
16	CTCF	chr6:90689-91023	A549	lung:	n/a	chr6:90883-90904
17	CTCF	chr6:90783-90984	K562	blood:	n/a	chr6:90883-90904
18	CTCF	chr6:90700-90850	HMF	breast:	n/a	n/a
19	FOSL2	chr6:90701-90929	HepG2	liver:	n/a	n/a
20	FOXA1	chr6:90699-91142	HepG2	liver:	n/a	n/a
21	GABPA	chr6:90112-90247	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr6:90709-90953	Hela-S3	cervix:	n/a	n/a
23	GATA2	chr6:90582-91643	K562	blood:	n/a	n/a
24	IRF4	chr6:90681-91005	GM12878	blood:	n/a	n/a
25	JUND	chr6:90784-90981	HepG2	liver:	n/a	n/a
26	PAX5	chr6:89139-89456	GM12878	blood:	n/a	n/a
27	PAX5	chr6:90788-90954	GM12878	blood:	n/a	n/a
28	PAX5	chr6:90776-90937	GM12878	blood:	n/a	n/a
29	PAX5	chr6:90789-90993	GM12878	blood:	n/a	n/a
30	PAX5	chr6:90661-91059	GM12878	blood:	n/a	n/a
31	POU2F2	chr6:90628-91018	GM12878	blood:	n/a	n/a
32	POU2F2	chr6:90786-90965	GM12878	blood:	n/a	n/a
33	RAD21	chr6:90744-90895	GM12878	blood:	n/a	n/a
34	RAD21	chr6:90814-91027	Hela-S3	cervix:	n/a	chr6:90886-90905
35	RAD21	chr6:90843-90846	HepG2	liver:	n/a	n/a
36	RAD21	chr6:90753-90894	GM12878	blood:	n/a	n/a
37	RAD21	chr6:90816-91019	GM12878	blood:	n/a	chr6:90886-90905
38	RXRA	chr6:90727-90992	HepG2	liver:	n/a	n/a
39	RXRA	chr6:91113-91461	GM12878	blood:	n/a	n/a
40	RXRA	chr6:90636-91049	GM12878	blood:	n/a	n/a
41	SIX5	chr6:91047-91302	K562	blood:	n/a	n/a
42	SMC3	chr6:90831-91012	GM12878	blood:	n/a	n/a
43	SMC3	chr6:90821-91021	Hela-S3	cervix:	n/a	n/a
44	SP1	chr6:90287-90566	GM12878	blood:	n/a	n/a
45	SP1	chr6:90759-91356	GM12878	blood:	n/a	n/a
46	SP1	chr6:90696-90971	GM12878	blood:	n/a	n/a
47	SPI1	chr6:90653-90949	GM12891	blood:	n/a	n/a
48	SPI1	chr6:90684-90957	GM12878	blood:	n/a	n/a
49	SPI1	chr6:90744-90973	K562	blood:	n/a	n/a
50	SPI1	chr6:90643-90958	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271530	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368476443	chr6:90129-90130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372304507	chr6:90246-90247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369629360	chr6:90323-90324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372488701	chr6:90364-90365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111846910	chr6:90410-90411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199785015	chr6:90737-90738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs202118147	chr6:90807-90808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556359425	chr6:90834-90835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374149261	chr6:90835-90836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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