Variant report

Variant	nsv972032
Chromosome Location	chr11:57771876-57774577
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	CTCF	chr11:57772180-57772330	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr11:57773284-57773310	Lung_OC	lung:	n/a	n/a
3	E2F4	chr11:57774523-57774710	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:57771977-57772535	HepG2	liver:	n/a	chr11:57772290-57772299 chr11:57772292-57772306
5	FOS	chr11:57774423-57774863	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
6	FOS	chr11:57774475-57774815	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
7	FOS	chr11:57773121-57773313	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:57774448-57774812	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
9	FOS	chr11:57774434-57774823	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
10	FOS	chr11:57773167-57773364	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:57774470-57774795	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
12	FOS	chr11:57772018-57772586	HUVEC	blood vessel:	n/a	n/a
13	FOSL2	chr11:57774440-57774778	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
14	GATA2	chr11:57770497-57772626	HUVEC	blood vessel:	n/a	chr11:57770677-57770687 chr11:57772312-57772322 chr11:57772288-57772298
15	JUN	chr11:57774484-57774817	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
16	JUN	chr11:57771859-57772532	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr11:57774553-57774668	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
18	MAFK	chr11:57774057-57774157	HepG2	liver:	n/a	n/a
19	MYC	chr11:57774432-57774723	MCF10A-Er-Src	breast:	n/a	chr11:57774649-57774658
20	MYC	chr11:57774363-57774476	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr11:57772158-57772468	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:57770660-57773108	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:57772175-57772506	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:57771898-57772732	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:57774388-57774432	A549	lung:	n/a	n/a
26	POLR2A	chr11:57771818-57772739	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:57772036-57772548	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:57772184-57772548	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr11:57774220-57774891	IMR90	lung:	n/a	n/a
30	STAT3	chr11:57774266-57774352	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr11:57773135-57773193	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF7L2	chr11:57774314-57774429	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR9Q1-1	chr11:57772858-57773177	NONHSAT021460

Variant related genes	Relation type
CYCSP26	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549280875	chr11:57771882-57771883	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567604050	chr11:57771894-57771895	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4938883	chr11:57771899-57771900	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556395453	chr11:57771935-57771936	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs148375693	chr11:57771968-57771969	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185840879	chr11:57772011-57772012	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs368865616	chr11:57772055-57772056	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573133604	chr11:57772068-57772069	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190318168	chr11:57772089-57772090	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371298220	chr11:57772108-57772109	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555631387	chr11:57772127-57772128	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574043020	chr11:57772146-57772147	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544354435	chr11:57772172-57772173	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181171123	chr11:57772234-57772235	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs28683591	chr11:57772262-57772263	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs374784820	chr11:57772273-57772274	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544801341	chr11:57772277-57772278	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527307675	chr11:57772278-57772279	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs185983096	chr11:57772298-57772299	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs527278812	chr11:57772328-57772329	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs549043945	chr11:57772349-57772350	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561117886	chr11:57772368-57772369	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531645819	chr11:57772390-57772391	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549965982	chr11:57772401-57772402	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369165466	chr11:57772432-57772433	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190982925	chr11:57772450-57772451	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs140738259	chr11:57772487-57772488	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551549514	chr11:57772536-57772537	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566965169	chr11:57772609-57772610	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11822753	chr11:57772612-57772613	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533886465	chr11:57772649-57772650	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560859303	chr11:57772655-57772656	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532585026	chr11:57772700-57772701	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573983324	chr11:57772750-57772751	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538179569	chr11:57772758-57772759	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556314083	chr11:57772862-57772863	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs540903728	chr11:57772974-57772975	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs578087067	chr11:57773008-57773009	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs545595747	chr11:57773070-57773071	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs372941819	chr11:57773093-57773094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11601202	chr11:57773160-57773161	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572155688	chr11:57773161-57773162	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs373508917	chr11:57773191-57773192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369680884	chr11:57773225-57773226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188963906	chr11:57773226-57773227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76414534	chr11:57773261-57773262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190628368	chr11:57773284-57773285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3851119	chr11:57773293-57773294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11601663	chr11:57773306-57773307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532167898	chr11:57773337-57773338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57770400-57772200	Weak transcription	Right Atrium	heart
2	chr11:57771000-57772600	Weak transcription	Adipose Nuclei	Adipose
3	chr11:57771000-57772600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:57771000-57772600	Enhancers	HUVEC	blood vessel
5	chr11:57771000-57774200	Weak transcription	Left Ventricle	heart
6	chr11:57771800-57772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:57771800-57772600	Enhancers	HepG2	liver
8	chr11:57772200-57772400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:57772200-57772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:57772200-57772600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:57772200-57772800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:57772200-57772800	Enhancers	Right Atrium	heart
13	chr11:57772400-57773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:57772400-57774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:57772600-57772800	Enhancers	Psoas Muscle	Psoas
16	chr11:57772600-57773000	Enhancers	Adipose Nuclei	Adipose
17	chr11:57772600-57773000	Flanking Active TSS	HUVEC	blood vessel
18	chr11:57772600-57773200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:57772600-57779000	Weak transcription	HepG2	liver
20	chr11:57772800-57773200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:57772800-57774200	Weak transcription	Right Atrium	heart
22	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
23	chr11:57773200-57774200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:57773200-57774400	Weak transcription	Psoas Muscle	Psoas
25	chr11:57773400-57773800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
29	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
31	chr11:57774200-57774800	Enhancers	Right Atrium	heart
32	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
33	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas

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