Variant report

Variant	nsv975210
Chromosome Location	chr11:86005887-86006387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85993708..85996490-chr11:86003264..86007905,4	K562	blood:

Variant related genes	Relation type
ENSG00000254783	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532917546	chr11:86005915-86005916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546311555	chr11:86005917-86005918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78901380	chr11:86005919-86005920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182807225	chr11:86005948-86005949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371246045	chr11:86006004-86006005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187148047	chr11:86006025-86006026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569086113	chr11:86006026-86006027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538106358	chr11:86006037-86006038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191534629	chr11:86006070-86006071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79231975	chr11:86006074-86006075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540607310	chr11:86006081-86006082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553923600	chr11:86006099-86006100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374875291	chr11:86006151-86006152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146526240	chr11:86006171-86006172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542721451	chr11:86006178-86006179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571018357	chr11:86006179-86006180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564471058	chr11:86006223-86006224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140790166	chr11:86006228-86006229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs291230	chr11:86006280-86006281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs74562730	chr11:86006287-86006288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565555376	chr11:86006312-86006313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144629824	chr11:86006329-86006330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546573908	chr11:86006338-86006339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566480522	chr11:86006370-86006371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
2	chr11:85995600-86012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:85995600-86012800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:85995800-86012600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:85995800-86013200	Weak transcription	Esophagus	oesophagus
6	chr11:85995800-86013200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:85996000-86012800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:85996000-86013000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:86003000-86012600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:86003200-86013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:86005400-86012600	Weak transcription	GM12878-XiMat	blood

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