Variant report

Variant	nsv527919
Chromosome Location	chr11:58403833-58404733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58403712..58404296-chr11:58442788..58443644,2	MCF-7	breast:
2	chr11:58344369..58347020-chr11:58402658..58405186,3	K562	blood:
3	chr11:58397520..58400716-chr11:58402056..58406653,5	K562	blood:
4	chr11:58402930..58405768-chr11:58406418..58410060,3	K562	blood:
5	chr11:58395680..58396185-chr11:58403814..58404411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255073	chromatin interactions
ENSG00000186660	chromatin interactions
ENSG00000110031	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10501372	chr11:58403833-58403834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542120096	chr11:58403858-58403859	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145014214	chr11:58403862-58403863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530715762	chr11:58403901-58403902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550294491	chr11:58403942-58403943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs565236913	chr11:58403995-58403996	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532598517	chr11:58404000-58404001	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547490671	chr11:58404003-58404004	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs565709285	chr11:58404016-58404017	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571918862	chr11:58404017-58404018	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs5792119	chr11:58404021-58404022	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192434605	chr11:58404030-58404031	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183818708	chr11:58404106-58404107	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187671272	chr11:58404119-58404120	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs570584852	chr11:58404204-58404205	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537247739	chr11:58404206-58404207	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559065652	chr11:58404233-58404234	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3216118	chr11:58404242-58404243	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576879461	chr11:58404270-58404271	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs948560	chr11:58404277-58404278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12278099	chr11:58404280-58404281	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574468822	chr11:58404341-58404342	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs6591481	chr11:58404405-58404406	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2298608	chr11:58404467-58404468	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs2298607	chr11:58404499-58404500	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370546804	chr11:58404526-58404527	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545690240	chr11:58404539-58404540	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565089367	chr11:58404576-58404577	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192161954	chr11:58404589-58404590	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547847782	chr11:58404624-58404625	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs76831077	chr11:58404648-58404649	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs2154631	chr11:58404733-58404734	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58392000-58406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:58393000-58407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:58393200-58407000	Weak transcription	Thymus	Thymus
4	chr11:58393800-58406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:58393800-58407800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:58394000-58407200	Weak transcription	Left Ventricle	heart
7	chr11:58394000-58407800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:58394600-58407200	Weak transcription	Primary T cells from cord blood	blood
9	chr11:58394600-58407200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:58394800-58407000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:58394800-58408200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:58395200-58407000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:58395200-58407000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:58395600-58407200	Weak transcription	Dnd41	blood
15	chr11:58395800-58407800	Weak transcription	Fetal Thymus	thymus
16	chr11:58396200-58407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:58402400-58407800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:58402800-58404400	Enhancers	Ovary	ovary
19	chr11:58403600-58407200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:58404400-58408000	Weak transcription	Ovary	ovary

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