Variant report

Variant	nsv1049336
Chromosome Location	chr11:54826801-55011132
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:54830914..54832417-chr2:88315417..88317014,2	MCF-7	breast:
2	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:
3	chr11:54832434..54833936-chr2:88314570..88316990,4	MCF-7	breast:
4	chr11:54831916..54832937-chr2:88315370..88316082,4	MCF-7	breast:
5	chr11:54832434..54832936-chr2:88315651..88316162,2	Hela-S3	cervix:
6	chr11:54832434..54832937-chr2:88315431..88316142,3	HCT-116	colon:
7	chr11:54831915..54832416-chr2:88315509..88316126,2	Hela-S3	cervix:
8	chr11:54832435..54833937-chr2:88314124..88316426,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222724	chromatin interactions

Extended variants
information (count: 11875 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:11875 , 50 per page) page: 1 2 3 4 5 6 7 ... 238

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556431495	chr11:54827602-54827603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552553099	chr11:54827613-54827614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370951926	chr11:54827638-54827639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28806514	chr11:54827669-54827670	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150830155	chr11:54827686-54827687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190558054	chr11:54827688-54827689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542700711	chr11:54827719-54827720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561190382	chr11:54827763-54827764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531935420	chr11:54827790-54827791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181475733	chr11:54827878-54827879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565596118	chr11:54827879-54827880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532674933	chr11:54827918-54827919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139287228	chr11:54827996-54827997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566468947	chr11:54828019-54828020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145430371	chr11:54828042-54828043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556704185	chr11:54828057-54828058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567307552	chr11:54828058-54828059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11227407	chr11:54828062-54828063	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs538061040	chr11:54828091-54828092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372169343	chr11:54828107-54828108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556055866	chr11:54828134-54828135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568562162	chr11:54828147-54828148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186112537	chr11:54828154-54828155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140530716	chr11:54828212-54828213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553787996	chr11:54828223-54828224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572102252	chr11:54828235-54828236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542565238	chr11:54828237-54828238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554650234	chr11:54828239-54828240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12224413	chr11:54828260-54828261	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544025125	chr11:54828263-54828264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565324823	chr11:54828273-54828274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532884332	chr11:54828294-54828295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190126300	chr11:54828307-54828308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12224416	chr11:54828309-54828310	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117961171	chr11:54828312-54828313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548966140	chr11:54828324-54828325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371458318	chr11:54828370-54828371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561059436	chr11:54828374-54828375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556848656	chr11:54828377-54828378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549981723	chr11:54828383-54828384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377312645	chr11:54828402-54828403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571344362	chr11:54828416-54828417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370061190	chr11:54828421-54828422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1608404	chr11:54828479-54828480	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547289382	chr11:54828500-54828501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565596663	chr11:54828503-54828504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536260700	chr11:54828546-54828547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543755897	chr11:54828563-54828564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554646975	chr11:54828565-54828566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576517638	chr11:54828594-54828595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54827600-54832400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:54828400-54833800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:54829000-54830400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:54832200-54832600	Active TSS	Brain Substantia Nigra	brain
6	chr11:54832600-54833400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:54833000-54834200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr11:54833400-54833800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:54833400-54833800	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr11:54833400-54833800	ZNF genes & repeats	HUVEC	blood vessel
11	chr11:54833400-54833800	ZNF genes & repeats	NH-A	brain
12	chr11:54833400-54833800	ZNF genes & repeats	Osteobl	bone
13	chr11:54833600-54833800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr11:54833600-54834000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr11:54835000-54835400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:54836200-54837600	ZNF genes & repeats	Liver	Liver
17	chr11:54836600-54837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:54838800-54839200	Active TSS	Aorta	Aorta
19	chr11:54839000-54844200	ZNF genes & repeats	Liver	Liver
20	chr11:54839600-54843400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:54840000-54843600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:54840200-54842400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:54841400-54844200	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr11:54844400-54847800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr11:54844800-54851800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:54846600-54848200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr11:54859000-54860000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr11:54861400-54868200	ZNF genes & repeats	Liver	Liver
29	chr11:54862600-54863000	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr11:54863800-54872800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:54864400-54865600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr11:54873000-54876000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr11:54875000-54875200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:54875400-54875800	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr11:54875800-54879400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:54879400-54883200	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr11:54881400-54884400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr11:54881600-54885400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr11:54882800-54884400	ZNF genes & repeats	Liver	Liver
40	chr11:54888000-54888600	ZNF genes & repeats	Liver	Liver
41	chr11:54889200-54890400	Weak transcription	Stomach Mucosa	stomach
42	chr11:54890400-54891000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr11:54890400-54891000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr11:54890600-54890800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:54890600-54890800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr11:54890600-54890800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:54890600-54890800	Active TSS	Ovary	ovary
48	chr11:54890600-54891000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr11:54890600-54891000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:54890600-54891000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links