Variant report

Variant	nsv523431
Chromosome Location	chr11:34192092-34199849
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34198458..34205212-chr11:34376041..34381079,14	MCF-7	breast:
2	chr11:34197536..34200208-chr11:34383082..34386079,2	K562	blood:
3	chr11:34186094..34192097-chr11:34378097..34382585,10	MCF-7	breast:
4	chr11:34186684..34189274-chr11:34189762..34192560,2	MCF-7	breast:
5	chr11:34195614..34196183-chr11:34380130..34380656,2	MCF-7	breast:
6	chr11:34195619..34196581-chr11:34378000..34378999,2	MCF-7	breast:
7	chr11:34186526..34189474-chr11:34192955..34194776,3	MCF-7	breast:
8	chr11:34194734..34196633-chr11:34370779..34372924,2	MCF-7	breast:
9	chr11:34195492..34196865-chr11:34379079..34381984,35	K562	blood:
10	chr11:34189648..34198426-chr11:34377718..34382191,19	MCF-7	breast:
11	chr11:34071760..34074563-chr11:34194562..34197437,2	MCF-7	breast:
12	chr11:34187306..34189277-chr11:34191112..34193482,2	K562	blood:
13	chr11:34194574..34196740-chr11:34221651..34224384,2	K562	blood:
14	chr11:34018324..34019191-chr11:34195609..34196174,2	K562	blood:
15	chr11:34185403..34188000-chr11:34196564..34198750,2	MCF-7	breast:
16	chr11:33829510..33830030-chr11:34195544..34196521,2	K562	blood:
17	chr11:34195965..34197005-chr11:34489545..34490431,3	K562	blood:
18	chr11:34195780..34196501-chr11:34488819..34489403,2	K562	blood:
19	chr11:34197728..34198296-chr11:34380470..34381106,2	MCF-7	breast:
20	chr11:34195400..34196504-chr11:34379832..34381736,16	MCF-7	breast:
21	chr11:34199620..34202889-chr11:34205068..34208989,4	K562	blood:
22	chr11:34192703..34198960-chr11:34377862..34381176,7	MCF-7	breast:
23	chr11:34187334..34191068-chr11:34191112..34197188,7	K562	blood:
24	chr11:34195546..34196170-chr11:34215995..34216946,2	K562	blood:
25	chr11:34168126..34171027-chr11:34193245..34194980,2	MCF-7	breast:
26	chr11:34194502..34196652-chr11:34202672..34204738,2	MCF-7	breast:
27	chr11:34185430..34188378-chr11:34191219..34194935,5	MCF-7	breast:
28	chr11:34195960..34197951-chr11:34375178..34377158,2	MCF-7	breast:
29	chr11:34194851..34196566-chr11:34380231..34381621,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135372	chromatin interactions
ENSG00000135387	chromatin interactions
ENSG00000166016	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2957489	chr11:34192092-34192093	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542544755	chr11:34192118-34192119	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192673346	chr11:34192140-34192141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377644220	chr11:34192144-34192145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17780165	chr11:34192146-34192147	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564834214	chr11:34192182-34192183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561765739	chr11:34192183-34192184	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527846765	chr11:34192199-34192200	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185017470	chr11:34192264-34192265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567930686	chr11:34192297-34192298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141510439	chr11:34192328-34192329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147042540	chr11:34192330-34192331	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112407742	chr11:34192339-34192340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570021502	chr11:34192382-34192383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138350995	chr11:34192420-34192421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201126510	chr11:34192429-34192430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558959977	chr11:34192448-34192449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147167977	chr11:34192480-34192481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140044886	chr11:34192493-34192494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376685015	chr11:34192504-34192505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150560418	chr11:34192515-34192516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533713337	chr11:34192554-34192555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367642739	chr11:34192577-34192578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372144525	chr11:34192584-34192585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145573809	chr11:34192592-34192593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375179686	chr11:34192643-34192644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369826456	chr11:34192644-34192645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553532035	chr11:34192666-34192667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547494953	chr11:34192689-34192690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180733905	chr11:34192769-34192770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75775157	chr11:34192770-34192771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529682215	chr11:34192777-34192778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562687343	chr11:34192792-34192793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76218695	chr11:34192825-34192826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2982607	chr11:34192843-34192844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529364582	chr11:34192929-34192930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185129040	chr11:34193057-34193058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527403301	chr11:34193070-34193071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561435509	chr11:34193115-34193116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372453958	chr11:34193116-34193117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75730867	chr11:34193126-34193127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561449533	chr11:34193134-34193135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530358032	chr11:34193179-34193180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550443722	chr11:34193205-34193206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570254964	chr11:34193414-34193415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538979497	chr11:34193436-34193437	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2982606	chr11:34193465-34193466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189155753	chr11:34193479-34193480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569969287	chr11:34193483-34193484	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374638397	chr11:34193484-34193485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34169600-34196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34173200-34195600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:34174600-34193400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:34176800-34195600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:34177000-34196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:34177400-34195400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:34177600-34194600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:34177600-34196200	Weak transcription	Primary T cells from cord blood	blood
9	chr11:34177800-34195800	Weak transcription	Spleen	Spleen
10	chr11:34177800-34196000	Weak transcription	GM12878-XiMat	blood
11	chr11:34178800-34192600	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:34178800-34195200	Weak transcription	Hela-S3	cervix
13	chr11:34179200-34195400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:34179400-34196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:34179600-34193600	Strong transcription	Liver	Liver
16	chr11:34180000-34195200	Strong transcription	HepG2	liver
17	chr11:34180600-34195400	Weak transcription	Fetal Thymus	thymus
18	chr11:34181400-34195400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:34182200-34195400	Weak transcription	Osteobl	bone
20	chr11:34182800-34196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:34183000-34195200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:34183600-34198000	Weak transcription	Fetal Lung	lung
23	chr11:34183800-34194400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:34184200-34195400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:34184200-34195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:34184200-34195800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:34184400-34195400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:34184600-34196000	Weak transcription	Gastric	stomach
29	chr11:34184800-34195400	Weak transcription	Brain Anterior Caudate	brain
30	chr11:34185000-34195400	Weak transcription	Brain Angular Gyrus	brain
31	chr11:34187000-34195400	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:34188000-34192600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:34188000-34192800	Strong transcription	Aorta	Aorta
34	chr11:34188400-34195000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:34188400-34196200	Weak transcription	Esophagus	oesophagus
36	chr11:34189200-34195200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:34189600-34195400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:34189600-34195800	Weak transcription	Thymus	Thymus
39	chr11:34189800-34192800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:34190200-34192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:34190200-34195600	Weak transcription	Fetal Brain Female	brain
42	chr11:34190400-34193000	Weak transcription	Fetal Intestine Small	intestine
43	chr11:34190400-34194600	Weak transcription	Fetal Stomach	stomach
44	chr11:34190400-34195000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:34190400-34195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:34190400-34195600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:34190400-34195800	Weak transcription	Pancreas	Pancrea
48	chr11:34190600-34195800	Weak transcription	NH-A	brain
49	chr11:34190600-34196000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:34190800-34192800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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