Variant report

Variant	esv3396436
Chromosome Location	chr11:58409618-58410144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58402930..58405768-chr11:58406418..58410060,3	K562	blood:
2	chr11:58396664..58398524-chr11:58408556..58410829,2	K562	blood:
3	chr11:58408491..58410275-chr11:58912566..58915086,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147811977	chr11:58409663-58409664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550105489	chr11:58409664-58409665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181586919	chr11:58409702-58409703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571862428	chr11:58409723-58409724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116062437	chr11:58409746-58409747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7945130	chr11:58409757-58409758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141448164	chr11:58409762-58409763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535983342	chr11:58409812-58409813	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554241249	chr11:58409813-58409814	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576041816	chr11:58409846-58409847	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141893718	chr11:58409848-58409849	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7948312	chr11:58409861-58409862	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564866354	chr11:58409885-58409886	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565919370	chr11:58409914-58409915	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577086663	chr11:58409939-58409940	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528819813	chr11:58410044-58410045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541314081	chr11:58410076-58410077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs10792174	chr11:58410118-58410119	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs604390	chr11:58410132-58410133	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs529910304	chr11:58410144-58410145	Enhancers Weak transcription Bivalent Enhancer	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58406000-58410200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:58406200-58411200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:58406200-58413000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:58407200-58410000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:58407600-58410800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:58407800-58410400	Enhancers	Fetal Intestine Large	intestine
7	chr11:58407800-58410600	Enhancers	Fetal Intestine Small	intestine
8	chr11:58408000-58410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:58408200-58409800	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:58408800-58410200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:58408800-58413000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:58408800-58413000	Weak transcription	Thymus	Thymus
13	chr11:58409000-58411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:58409600-58410200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:58409800-58410200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:58410000-58410200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:58410000-58410600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links