Variant report

Variant	nsv983185
Chromosome Location	chr11:57714356-57732279
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	JUND	chr11:57721515-57721692	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr11:57729994-57730066	HepG2	liver:	n/a	n/a
3	MYC	chr11:57730176-57730239	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr11:57732086-57732464	HL-60	blood:	n/a	n/a
5	SPI1	chr11:57714208-57714381	GM12878	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
6	SPI1	chr11:57714162-57714459	GM12878	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
7	SPI1	chr11:57714171-57714537	HL-60	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
8	SPI1	chr11:57713963-57714642	GM12878	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
9	SPI1	chr11:57714157-57714513	GM12891	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
10	SPI1	chr11:57732160-57732431	K562	blood:	n/a	n/a
11	SPI1	chr11:57714171-57714453	GM12891	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315
12	SPI1	chr11:57732151-57732460	K562	blood:	n/a	n/a
13	TEAD4	chr11:57732096-57732534	K562	blood:	n/a	n/a
14	YY1	chr11:57728064-57728281	K562	blood:	n/a	n/a
15	YY1	chr11:57728062-57728272	K562	blood:	n/a	n/a
16	ZNF384	chr11:57728154-57728363	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR5BD1P	TF binding region

Extended variants
information (count: 292 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182413492	chr11:57714406-57714407	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529593322	chr11:57714414-57714415	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538677974	chr11:57714422-57714423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138356107	chr11:57714558-57714559	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563067864	chr11:57714568-57714569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533606040	chr11:57714590-57714591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12420220	chr11:57714598-57714599	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs35302260	chr11:57714619-57714620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535616951	chr11:57714621-57714622	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71061556	chr11:57714628-57714629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1848880	chr11:57714638-57714639	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369129524	chr11:57714639-57714640	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537469042	chr11:57714642-57714643	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536178334	chr11:57714648-57714649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533754098	chr11:57714649-57714650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184762074	chr11:57714652-57714653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567288793	chr11:57714683-57714684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537726932	chr11:57714751-57714752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1848879	chr11:57714770-57714771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs372399573	chr11:57714773-57714774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577407154	chr11:57714784-57714785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189243413	chr11:57714829-57714830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148351827	chr11:57714841-57714842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573269711	chr11:57714844-57714845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141499845	chr11:57714867-57714868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561911309	chr11:57714897-57714898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531595512	chr11:57714919-57714920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574127848	chr11:57715051-57715052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544910755	chr11:57715055-57715056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563183364	chr11:57715143-57715144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181591057	chr11:57715182-57715183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185812628	chr11:57715191-57715192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191364538	chr11:57715208-57715209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150916078	chr11:57715211-57715212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181158128	chr11:57715232-57715233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566921226	chr11:57715233-57715234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531249099	chr11:57715322-57715323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549626394	chr11:57715381-57715382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186092007	chr11:57715385-57715386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547608540	chr11:57715394-57715395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538802341	chr11:57715415-57715416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577115758	chr11:57715416-57715417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55823856	chr11:57715422-57715423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545449006	chr11:57715450-57715451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7126334	chr11:57715473-57715474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534030072	chr11:57715510-57715511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190617535	chr11:57715589-57715590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530912139	chr11:57715593-57715594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544620114	chr11:57715622-57715623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556867280	chr11:57715638-57715639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Angio-oedema	21790735	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57713800-57714800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:57713800-57720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:57720600-57721400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:57720800-57721200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:57721600-57722400	Enhancers	HMEC	breast
6	chr11:57732000-57732600	Enhancers	K562	blood
7	chr11:57732200-57732600	Enhancers	HepG2	liver

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