Variant report

Variant	nsv976467
Chromosome Location	chr11:59898261-59911928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59589954..59591189-chr11:59897601..59898679,5	K562	blood:
2	chr11:59803708..59805688-chr11:59908661..59910786,2	K562	blood:
3	chr11:59905623..59908151-chr11:59911648..59914024,2	K562	blood:
4	chr11:59590238..59591135-chr11:59897588..59898633,5	MCF-7	breast:
5	chr11:59521183..59522129-chr11:59897665..59898553,3	K562	blood:
6	chr11:59905623..59908151-chr11:59911648..59914024,2	K562	blood:
7	chr11:59909863..59911734-chr11:59915341..59917142,2	K562	blood:
8	chr11:59899268..59901225-chr11:59929250..59931810,2	K562	blood:

No data

Extended variants
information (count: 419 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:419 , 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	rs546508796	chr11:59898266-59898267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs512548	chr11:59898267-59898268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs143347547	chr11:59898302-59898303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575029331	chr11:59898391-59898392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562169487	chr11:59898392-59898393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529472877	chr11:59898425-59898426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550860910	chr11:59898434-59898435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565711322	chr11:59898444-59898445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116720280	chr11:59898484-59898485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533417479	chr11:59898501-59898502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137964078	chr11:59898509-59898510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7940080	chr11:59898586-59898587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534111891	chr11:59898591-59898592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191258089	chr11:59898606-59898607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114527069	chr11:59898629-59898630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200700820	chr11:59898641-59898642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540591908	chr11:59898695-59898696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567415169	chr11:59898737-59898738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116399093	chr11:59898749-59898750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556041415	chr11:59898750-59898751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552109218	chr11:59898774-59898775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577330194	chr11:59898780-59898781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58941872	chr11:59898793-59898794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560501401	chr11:59898862-59898863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544047718	chr11:59898867-59898868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145757344	chr11:59898923-59898924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35421721	chr11:59898925-59898926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78040092	chr11:59898939-59898940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76848935	chr11:59898942-59898943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553396898	chr11:59898956-59898957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571930767	chr11:59898973-59898974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571683796	chr11:59898986-59898987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373730504	chr11:59898987-59898988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367645388	chr11:59899009-59899010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183564685	chr11:59899017-59899018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138687088	chr11:59899038-59899039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142867738	chr11:59899047-59899048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539428039	chr11:59899075-59899076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563029472	chr11:59899082-59899083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562965596	chr11:59899090-59899091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533505699	chr11:59899094-59899095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541070	chr11:59899101-59899102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531883959	chr11:59899130-59899131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374331520	chr11:59899133-59899134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566907946	chr11:59899150-59899151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527702978	chr11:59899163-59899164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139206957	chr11:59899164-59899165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186114336	chr11:59899174-59899175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149498951	chr11:59899175-59899176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556365983	chr11:59899183-59899184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59892600-59899200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:59893800-59899400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:59895000-59899200	Weak transcription	Ovary	ovary
4	chr11:59895400-59907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:59895800-59899200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:59897400-59898400	Enhancers	K562	blood
7	chr11:59897600-59898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:59897600-59898400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:59897600-59898400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:59898000-59898600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:59898400-59900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:59899200-59899400	Enhancers	Ovary	ovary
13	chr11:59899200-59900400	Enhancers	Fetal Intestine Large	intestine
14	chr11:59899200-59900400	Enhancers	Fetal Intestine Small	intestine
15	chr11:59899400-59900200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:59899600-59899800	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:59900200-59900400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:59901400-59902200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:59903800-59904000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:59907600-59907800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:59910400-59912800	Enhancers	Dnd41	blood

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