Variant report

Variant	nsv972924
Chromosome Location	chr11:59059165-59071373
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	MAFK	chr11:59067856-59068031	HepG2	liver:	n/a	chr11:59067903-59067914 chr11:59067903-59067914
2	POLR2A	chr11:59070920-59071320	K562	blood:	n/a	n/a
3	POLR2A	chr11:59065216-59065286	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:59070033-59070614	K562	blood:	n/a	n/a
5	STAT3	chr11:59069375-59069510	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:59059522-59059871	MCF10A-Er-Src	breast:	n/a	chr11:59059695-59059706 chr11:59059674-59059685
7	STAT3	chr11:59059521-59059772	MCF10A-Er-Src	breast:	n/a	chr11:59059695-59059706 chr11:59059674-59059685
8	STAT3	chr11:59062549-59063299	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:59059521-59059870	MCF10A-Er-Src	breast:	n/a	chr11:59059695-59059706 chr11:59059674-59059685
10	STAT3	chr11:59059531-59059869	MCF10A-Er-Src	breast:	n/a	chr11:59059695-59059706 chr11:59059674-59059685
11	TAL1	chr11:59063903-59064124	K562	blood:	n/a	n/a
12	TEAD4	chr11:59063877-59064148	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254704	TF binding region
RN7SL435P	TF binding region

Extended variants
information (count: 444 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10792230	chr11:59059179-59059180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556942570	chr11:59059185-59059186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567265599	chr11:59059201-59059202	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536587869	chr11:59059238-59059239	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576361435	chr11:59059263-59059264	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10792231	chr11:59059372-59059373	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186913835	chr11:59059413-59059414	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532456905	chr11:59059483-59059484	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547624462	chr11:59059499-59059500	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559579122	chr11:59059518-59059519	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73478763	chr11:59059523-59059524	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190279425	chr11:59059524-59059525	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs10750914	chr11:59059545-59059546	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61903333	chr11:59059584-59059585	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs537070583	chr11:59059636-59059637	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs551858411	chr11:59059657-59059658	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs558432443	chr11:59059693-59059694	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs142032921	chr11:59059713-59059714	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs146346953	chr11:59059726-59059727	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs572298701	chr11:59059732-59059733	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs536574900	chr11:59059747-59059748	Enhancers Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs374458917	chr11:59059851-59059852	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs554824054	chr11:59060079-59060080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1945588	chr11:59060150-59060151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543804603	chr11:59060180-59060181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182847103	chr11:59060210-59060211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542944206	chr11:59060235-59060236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80117879	chr11:59060246-59060247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187400230	chr11:59060260-59060261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193227371	chr11:59060312-59060313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185624280	chr11:59060317-59060318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34068771	chr11:59060331-59060332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71036511	chr11:59060333-59060334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573689751	chr11:59060348-59060349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79700503	chr11:59060370-59060371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559626138	chr11:59060375-59060376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563621215	chr11:59060387-59060388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547672008	chr11:59060439-59060440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530669216	chr11:59060554-59060555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78563714	chr11:59060576-59060577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528755497	chr11:59060596-59060597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189203177	chr11:59060623-59060624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528215245	chr11:59060635-59060636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546265667	chr11:59060663-59060664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565965201	chr11:59060750-59060751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559619407	chr11:59060765-59060766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536473055	chr11:59060770-59060771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554697353	chr11:59060827-59060828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570341256	chr11:59060838-59060839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537337515	chr11:59060908-59060909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Acute lymphoblastic leukemia	20435627	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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59057000-59060400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:59057200-59066000	Enhancers	Liver	Liver
3	chr11:59058600-59059800	Enhancers	Adipose Nuclei	Adipose
4	chr11:59058800-59060000	Weak transcription	Gastric	stomach
5	chr11:59059000-59059400	Weak transcription	Pancreas	Pancrea
6	chr11:59059200-59059800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:59059400-59060200	Enhancers	Pancreas	Pancrea
8	chr11:59060000-59060200	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:59060000-59060200	Enhancers	Gastric	stomach
10	chr11:59060200-59063600	Weak transcription	Gastric	stomach
11	chr11:59060200-59063800	Weak transcription	Pancreas	Pancrea
12	chr11:59063800-59064000	Enhancers	Gastric	stomach
13	chr11:59063800-59064200	Enhancers	Pancreas	Pancrea
14	chr11:59064200-59069800	Weak transcription	Pancreas	Pancrea
15	chr11:59068400-59069000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:59068600-59069200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:59069400-59069600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:59069800-59070000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:59069800-59070800	Enhancers	Pancreas	Pancrea

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