Variant report

Variant	nsv972925
Chromosome Location	chr11:59299418-59314660
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59298576..59301819-chr11:59302452..59306750,5	K562	blood:
2	chr11:59299271..59301763-chr11:59305250..59306975,3	K562	blood:
3	chr11:59312958..59315915-chr11:59381539..59383826,3	K562	blood:
4	chr11:59309329..59311189-chr11:59379194..59381372,2	K562	blood:
5	chr11:59313248..59321957-chr11:59433786..59439304,14	K562	blood:
6	chr11:59303426..59305638-chr11:59365793..59367392,2	K562	blood:
7	chr11:59313058..59315835-chr11:59384202..59386133,2	K562	blood:
8	chr11:59304688..59305401-chr12:111015463..111016230,2	NB4	blood:
9	chr11:59299271..59301763-chr11:59305250..59306975,3	K562	blood:
10	chr11:59303328..59305254-chr11:59447598..59450069,2	K562	blood:
11	chr11:59313138..59315847-chr11:59354550..59357192,2	K562	blood:
12	chr11:59304452..59305342-chr11:59447720..59448612,3	K562	blood:
13	chr11:59298576..59301061-chr11:59302374..59304963,3	K562	blood:
14	chr11:59313285..59315331-chr6:27779398..27781335,2	K562	blood:
15	chr11:59314530..59316148-chr11:59606784..59608599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110048	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000254770	chromatin interactions
ENSG00000255355	chromatin interactions

Extended variants
information (count: 508 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535471923	chr11:59299421-59299422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190807059	chr11:59299442-59299443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200382624	chr11:59299452-59299453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377350327	chr11:59299462-59299463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575425937	chr11:59299498-59299499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78791389	chr11:59299502-59299503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557629099	chr11:59299535-59299536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531373412	chr11:59299546-59299547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540303312	chr11:59299566-59299567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561782566	chr11:59299571-59299572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181992694	chr11:59299610-59299611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116738318	chr11:59299617-59299618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185921082	chr11:59299629-59299630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75981822	chr11:59299659-59299660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552841387	chr11:59299666-59299667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570907079	chr11:59299670-59299671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543265825	chr11:59299677-59299678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546654107	chr11:59299678-59299679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368396995	chr11:59299681-59299682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543561385	chr11:59299682-59299683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191219534	chr11:59299683-59299684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182780662	chr11:59299687-59299688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569245235	chr11:59299714-59299715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539308064	chr11:59299723-59299724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146572678	chr11:59299774-59299775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567752652	chr11:59299823-59299824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572916901	chr11:59299824-59299825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563338780	chr11:59299837-59299838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78767489	chr11:59299862-59299863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141311431	chr11:59299876-59299877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79512660	chr11:59299914-59299915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531892855	chr11:59299953-59299954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77388804	chr11:59299973-59299974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188296848	chr11:59300005-59300006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528052037	chr11:59300011-59300012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144981518	chr11:59300027-59300028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546768080	chr11:59300045-59300046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568360637	chr11:59300050-59300051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116803726	chr11:59300056-59300057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551058545	chr11:59300074-59300075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561950718	chr11:59300081-59300082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138833533	chr11:59300130-59300131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7927216	chr11:59300141-59300142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566739841	chr11:59300146-59300147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534131577	chr11:59300157-59300158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370002660	chr11:59300158-59300159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111664083	chr11:59300189-59300190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114503220	chr11:59300193-59300194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537892153	chr11:59300234-59300235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556243343	chr11:59300295-59300296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59296200-59304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:59297200-59301800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:59299200-59299800	Enhancers	K562	blood
4	chr11:59299400-59300000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:59299800-59304200	Weak transcription	K562	blood
6	chr11:59300000-59304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:59300200-59300600	Enhancers	HepG2	liver
8	chr11:59300600-59304200	Weak transcription	HepG2	liver
9	chr11:59301800-59302400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:59302000-59302200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:59302200-59304600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:59302400-59304800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:59303800-59304200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:59303800-59304200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59303800-59304400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:59304000-59304200	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:59304200-59304400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:59304200-59304400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr11:59304200-59304400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:59304200-59304400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:59304200-59304400	Enhancers	Adipose Nuclei	Adipose
22	chr11:59304200-59304400	Enhancers	Liver	Liver
23	chr11:59304200-59304400	Enhancers	Dnd41	blood
24	chr11:59304200-59304400	Enhancers	NHDF-Ad	bronchial
25	chr11:59304200-59304400	Flanking Active TSS	Osteobl	bone
26	chr11:59304200-59304600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:59304200-59304600	Enhancers	Primary T cells from cord blood	blood
28	chr11:59304200-59304600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:59304200-59304600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:59304200-59304600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:59304200-59304600	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:59304200-59304600	Enhancers	Placenta	Placenta
33	chr11:59304200-59304800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:59304200-59305000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:59304200-59305200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:59304200-59305200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:59304200-59305200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:59304200-59305200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:59304200-59305200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:59304200-59305200	Active TSS	A549	lung
41	chr11:59304200-59305200	Active TSS	Hela-S3	cervix
42	chr11:59304200-59305200	Active TSS	K562	blood
43	chr11:59304200-59305400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:59304200-59305400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:59304200-59305400	Active TSS	HepG2	liver
46	chr11:59304200-59305400	Active TSS	HSMM	muscle
47	chr11:59304200-59305600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:59304200-59305600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:59304200-59305600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr11:59304200-59305600	Active TSS	NHLF	lung

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