Variant report

Variant	esv3421077
Chromosome Location	chr11:67986476-67987724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67983858..67985852-chr11:67985955..67987493,2	K562	blood:
2	chr11:67984326..67985846-chr11:67987595..67989573,2	K562	blood:
3	chr11:67979820..67983641-chr11:67985792..67988852,5	K562	blood:

Variant related genes	Relation type
ENSG00000110066	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553367796	chr11:67986515-67986516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12575112	chr11:67986535-67986536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571351199	chr11:67986542-67986543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145380871	chr11:67986591-67986592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556562995	chr11:67986605-67986606	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs36150946	chr11:67986646-67986647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536152488	chr11:67986649-67986650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141226836	chr11:67986677-67986678	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573053058	chr11:67986680-67986681	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553633510	chr11:67986681-67986682	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4345973	chr11:67986685-67986686	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs183603644	chr11:67986693-67986694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577431009	chr11:67986708-67986709	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140551862	chr11:67986736-67986737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374194683	chr11:67986744-67986745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201560952	chr11:67986745-67986746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs71043407	chr11:67986746-67986747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200015120	chr11:67986748-67986749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201439994	chr11:67986775-67986776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201182982	chr11:67986780-67986781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201627366	chr11:67986782-67986783	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577937799	chr11:67986825-67986826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145783095	chr11:67986844-67986845	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188647631	chr11:67986863-67986864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574926414	chr11:67986864-67986865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200910017	chr11:67986878-67986879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541852825	chr11:67986879-67986880	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192766746	chr11:67986887-67986888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374126630	chr11:67986903-67986904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140624349	chr11:67986905-67986906	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143700077	chr11:67986913-67986914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552751202	chr11:67986923-67986924	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199704108	chr11:67986924-67986925	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200526925	chr11:67986936-67986937	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62636407	chr11:67986951-67986952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs62636408	chr11:67986959-67986960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62636409	chr11:67986965-67986966	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201578438	chr11:67986967-67986968	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201324314	chr11:67986968-67986969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs202061381	chr11:67986975-67986976	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200177257	chr11:67986986-67986987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111508120	chr11:67987005-67987006	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535893266	chr11:67987014-67987015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200559799	chr11:67987027-67987028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200948047	chr11:67987031-67987032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557617206	chr11:67987051-67987052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184113315	chr11:67987061-67987062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199870563	chr11:67987092-67987093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs202235338	chr11:67987104-67987105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200226641	chr11:67987105-67987106	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67982400-67987000	Weak transcription	Fetal Heart	heart
2	chr11:67982800-67986600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:67982800-67987200	Weak transcription	GM12878-XiMat	blood
4	chr11:67983000-67987200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:67983400-67987200	Weak transcription	Fetal Lung	lung
6	chr11:67985000-67987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:67986600-67987600	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:67987000-67987600	Enhancers	Fetal Heart	heart
9	chr11:67987000-67987800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:67987200-67987600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:67987200-67987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:67987200-67987600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:67987200-67987600	Enhancers	GM12878-XiMat	blood
14	chr11:67987200-67987600	Enhancers	Hela-S3	cervix
15	chr11:67987200-67987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:67987200-67987800	Enhancers	Fetal Lung	lung
17	chr11:67987400-67987600	Enhancers	Skeletal Muscle Male	skeletal muscle

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