Variant report

Variant	nsv983041
Chromosome Location	chr11:72548104-72549896
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72541766..72544288-chr11:72546935..72549671,2	MCF-7	breast:
2	chr11:72549730..72551494-chr11:72558508..72560707,2	MCF-7	breast:
3	chr11:72541706..72544690-chr11:72549896..72552150,3	MCF-7	breast:
4	chr11:72547760..72550663-chr11:72556425..72558728,2	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FCHSD2	hsa-miR-124-3p	chr11:72549657-72549676
2	FCHSD2	hsa-miR-124-3p	chr11:72549663-72549657

Extended variants
information (count: 70 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572055260	chr11:72548106-72548107	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74669541	chr11:72548135-72548136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540570583	chr11:72548191-72548192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560792460	chr11:72548276-72548277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565173024	chr11:72548310-72548311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532348821	chr11:72548368-72548369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34789461	chr11:72548391-72548392	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77910635	chr11:72548410-72548411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531438698	chr11:72548422-72548423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185907791	chr11:72548505-72548506	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61894256	chr11:72548509-72548510	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377583611	chr11:72548510-72548511	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78600286	chr11:72548512-72548513	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529725070	chr11:72548522-72548523	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548244847	chr11:72548576-72548577	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6592492	chr11:72548596-72548597	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145880755	chr11:72548613-72548614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184900038	chr11:72548735-72548736	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546892677	chr11:72548745-72548746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189529446	chr11:72548774-72548775	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538864187	chr11:72548782-72548783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557107292	chr11:72548799-72548800	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149006588	chr11:72548805-72548806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536383328	chr11:72548812-72548813	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142927800	chr11:72548816-72548817	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200783836	chr11:72548858-72548859	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573200937	chr11:72548884-72548885	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577869126	chr11:72548886-72548887	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561413558	chr11:72548919-72548920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571195619	chr11:72548933-72548934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540584639	chr11:72549013-72549014	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189210868	chr11:72549083-72549084	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565185548	chr11:72549114-72549115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577174857	chr11:72549120-72549121	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528134078	chr11:72549148-72549149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562569534	chr11:72549154-72549155	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550064861	chr11:72549171-72549172	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115461335	chr11:72549216-72549217	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192289484	chr11:72549252-72549253	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527300920	chr11:72549262-72549263	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1801886	chr11:72549275-72549276	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1298094	chr11:72549296-72549297	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370575074	chr11:72549316-72549317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184449954	chr11:72549317-72549318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571630857	chr11:72549323-72549324	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72969826	chr11:72549329-72549330	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550849396	chr11:72549331-72549332	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117512134	chr11:72549345-72549346	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76762469	chr11:72549374-72549375	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554765755	chr11:72549414-72549415	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72533800-72549400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:72534000-72549200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:72534200-72550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
6	chr11:72540800-72554000	Weak transcription	Colonic Mucosa	Colon
7	chr11:72541000-72550800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:72541400-72549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:72541600-72558400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:72541800-72548600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:72541800-72548800	Weak transcription	Fetal Brain Female	brain
12	chr11:72542000-72549400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:72542000-72553000	Weak transcription	Gastric	stomach
14	chr11:72542200-72548200	Enhancers	Fetal Heart	heart
15	chr11:72542200-72548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:72543000-72551600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:72543000-72556400	Weak transcription	K562	blood
18	chr11:72543200-72548400	Weak transcription	Fetal Brain Male	brain
19	chr11:72543200-72548400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:72543200-72548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:72543200-72549000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:72543200-72549200	Weak transcription	Pancreas	Pancrea
23	chr11:72543200-72550600	Weak transcription	Hela-S3	cervix
24	chr11:72543200-72552600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:72543200-72555600	Strong transcription	Fetal Thymus	thymus
26	chr11:72543200-72556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:72543200-72558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:72543200-72562200	Weak transcription	A549	lung
29	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
30	chr11:72543400-72548600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:72543400-72549200	Weak transcription	HMEC	breast
32	chr11:72543400-72560800	Strong transcription	GM12878-XiMat	blood
33	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:72543600-72548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:72543600-72548600	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:72543600-72555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:72544200-72549400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:72544600-72550600	Weak transcription	Esophagus	oesophagus
39	chr11:72545200-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:72545600-72548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:72545600-72554000	Strong transcription	Fetal Intestine Small	intestine
42	chr11:72546000-72549200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:72546000-72554400	Strong transcription	Brain Germinal Matrix	brain
44	chr11:72546000-72555600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:72546000-72555800	Strong transcription	Thymus	Thymus
46	chr11:72546000-72557000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:72546000-72557200	Strong transcription	HepG2	liver
48	chr11:72546000-72557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:72546000-72558000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:72546000-72558600	Strong transcription	Liver	Liver

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