Variant report

Variant	nsv825876
Chromosome Location	chr11:47939505-47941020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47938982..47939751-chr12:57482295..57483273,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000166886	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117366433	chr11:47939515-47939516	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560025689	chr11:47939531-47939532	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149662660	chr11:47939541-47939542	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532127624	chr11:47939543-47939544	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2626569	chr11:47939576-47939577	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562577570	chr11:47939586-47939587	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531415393	chr11:47939597-47939598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370792754	chr11:47939656-47939657	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77824696	chr11:47939662-47939663	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568039782	chr11:47939664-47939665	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533565223	chr11:47939749-47939750	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548066723	chr11:47939750-47939751	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186506139	chr11:47939809-47939810	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144511352	chr11:47939812-47939813	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374799787	chr11:47939843-47939844	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556777413	chr11:47939871-47939872	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148429185	chr11:47939873-47939874	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189676169	chr11:47939930-47939931	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182338431	chr11:47939932-47939933	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572364081	chr11:47939991-47939992	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566614736	chr11:47940008-47940009	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541030330	chr11:47940057-47940058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559985963	chr11:47940076-47940077	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186125109	chr11:47940081-47940082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545721447	chr11:47940140-47940141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562702261	chr11:47940145-47940146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191417135	chr11:47940195-47940196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541871836	chr11:47940204-47940205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73460984	chr11:47940214-47940215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527254168	chr11:47940240-47940241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190793379	chr11:47940264-47940265	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs547435042	chr11:47940265-47940266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570493734	chr11:47940272-47940273	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201083910	chr11:47940274-47940275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369181654	chr11:47940277-47940278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368935511	chr11:47940278-47940279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533643664	chr11:47940337-47940338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550253228	chr11:47940358-47940359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570219792	chr11:47940377-47940378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537532614	chr11:47940391-47940392	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535679404	chr11:47940408-47940409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188590253	chr11:47940422-47940423	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554202247	chr11:47940423-47940424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192149290	chr11:47940460-47940461	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183132330	chr11:47940472-47940473	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557710221	chr11:47940496-47940497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577663273	chr11:47940538-47940539	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532417597	chr11:47940562-47940563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368954338	chr11:47940580-47940581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368609633	chr11:47940591-47940592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47925600-47943200	Enhancers	Placenta	Placenta
2	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47931600-47939600	Weak transcription	NHDF-Ad	bronchial
4	chr11:47931600-47939600	Weak transcription	Osteobl	bone
5	chr11:47933000-47939600	Enhancers	A549	lung
6	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
7	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:47935400-47944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:47935600-47941200	Enhancers	HUVEC	blood vessel
10	chr11:47935800-47939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:47936400-47939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:47936400-47941200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:47936600-47939600	Enhancers	Thymus	Thymus
14	chr11:47936600-47941800	Enhancers	Fetal Thymus	thymus
15	chr11:47936800-47939600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:47936800-47939600	Enhancers	Adipose Nuclei	Adipose
17	chr11:47936800-47940200	Enhancers	Fetal Intestine Small	intestine
18	chr11:47936800-47940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:47936800-47940600	Enhancers	Fetal Muscle Leg	muscle
20	chr11:47936800-47941000	Enhancers	Spleen	Spleen
21	chr11:47937000-47939600	Enhancers	Fetal Lung	lung
22	chr11:47937000-47939600	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:47937000-47939600	Enhancers	Fetal Stomach	stomach
24	chr11:47937000-47940200	Enhancers	Fetal Brain Male	brain
25	chr11:47937000-47940200	Enhancers	Lung	lung
26	chr11:47937000-47941200	Enhancers	Pancreas	Pancrea
27	chr11:47937000-47941400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:47937200-47939600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:47937200-47939600	Enhancers	Stomach Smooth Muscle	stomach
30	chr11:47937200-47940800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:47937200-47941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:47937400-47939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:47937400-47942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:47937600-47939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47937600-47939600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:47937600-47939600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:47937600-47939600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:47937600-47940400	Enhancers	Stomach Mucosa	stomach
40	chr11:47937600-47940800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:47937600-47941200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:47937800-47939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:47937800-47939600	Enhancers	Fetal Kidney	kidney
44	chr11:47937800-47940000	Enhancers	Colon Smooth Muscle	Colon
45	chr11:47937800-47941400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:47938000-47939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:47938000-47939600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:47938000-47939600	Weak transcription	Brain Anterior Caudate	brain
49	chr11:47938000-47940200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:47938200-47939600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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