Variant report

Variant	nsv825874
Chromosome Location	chr11:47841077-47843451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:47841396-47841550	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47842648-47842662	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:47841406-47841737	K562	blood:	n/a	n/a
4	POLR2A	chr11:47841489-47841496	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:47841470-47841585	K562	blood:	n/a	n/a
6	POLR2A	chr11:47841341-47841564	K562	blood:	n/a	n/a
7	POLR2A	chr11:47841645-47841704	K562	blood:	n/a	n/a
8	POLR2A	chr11:47843170-47843211	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:47841408-47841708	K562	blood:	n/a	n/a
10	POLR2A	chr11:47842184-47842346	ProgFib	skin:	n/a	n/a
11	POLR2A	chr11:47841716-47841749	K562	blood:	n/a	n/a
12	POLR2A	chr11:47842268-47842554	K562	blood:	n/a	n/a
13	RCOR1	chr11:47841366-47841552	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47788029..47790788-chr11:47839875..47842622,2	MCF-7	breast:
2	chr11:47837659..47841122-chr11:47868262..47870678,3	MCF-7	breast:
3	chr11:47751522..47753583-chr11:47842006..47843911,2	K562	blood:
4	chr11:47839951..47841938-chr11:47841996..47843561,3	MCF-7	breast:
5	chr11:47839601..47841333-chr11:48132077..48133886,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252874	TF binding region
NUP160	TF binding region
ENSG00000252874	chromatin interactions
ENSG00000109920	chromatin interactions
ENSG00000030066	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558917960	chr11:47841092-47841093	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572543165	chr11:47841107-47841108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139296830	chr11:47841112-47841113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565465059	chr11:47841113-47841114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531107421	chr11:47841182-47841183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77688791	chr11:47841189-47841190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561328428	chr11:47841215-47841216	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373901759	chr11:47841233-47841234	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530222957	chr11:47841241-47841242	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547162982	chr11:47841261-47841262	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs386753263	chr11:47841327-47841328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59055358	chr11:47841329-47841330	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149939310	chr11:47841356-47841357	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571466393	chr11:47841386-47841387	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190793250	chr11:47841456-47841457	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556739810	chr11:47841496-47841497	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144038244	chr11:47841503-47841504	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140654420	chr11:47841557-47841558	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386753264	chr11:47841581-47841582	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4752795	chr11:47841583-47841584	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61895765	chr11:47841717-47841718	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115508481	chr11:47841793-47841794	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575861036	chr11:47841855-47841856	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4752796	chr11:47841862-47841863	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs181877752	chr11:47841873-47841874	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369006901	chr11:47841918-47841919	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1459988	chr11:47841947-47841948	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540716728	chr11:47841983-47841984	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567865660	chr11:47842028-47842029	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560596778	chr11:47842041-47842042	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532502216	chr11:47842042-47842043	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187322047	chr11:47842156-47842157	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571472162	chr11:47842229-47842230	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs190923676	chr11:47842260-47842261	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs182654578	chr11:47842261-47842262	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567106028	chr11:47842264-47842265	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376615093	chr11:47842265-47842266	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144529387	chr11:47842276-47842277	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs566462405	chr11:47842288-47842289	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs577902681	chr11:47842293-47842294	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs147838379	chr11:47842315-47842316	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558273787	chr11:47842362-47842363	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs575250104	chr11:47842400-47842401	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs544912822	chr11:47842455-47842456	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555336788	chr11:47842456-47842457	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs72895713	chr11:47842463-47842464	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540852847	chr11:47842479-47842480	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560530442	chr11:47842483-47842484	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs35682749	chr11:47842535-47842536	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182942126	chr11:47842536-47842537	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
4	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
8	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:47796400-47858800	Strong transcription	Liver	Liver
22	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
24	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
25	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47796800-47852000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:47798400-47845200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:47798400-47864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:47798600-47851600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:47805200-47846200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:47807000-47865600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:47810200-47846000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:47812400-47849000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:47814600-47850000	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:47815200-47851800	Strong transcription	Fetal Intestine Large	intestine
38	chr11:47817600-47851400	Strong transcription	Fetal Brain Female	brain
39	chr11:47820000-47843600	Strong transcription	Osteobl	bone
40	chr11:47820000-47864800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:47822800-47842400	Weak transcription	Pancreas	Pancrea
42	chr11:47823000-47854600	Weak transcription	Fetal Heart	heart
43	chr11:47823200-47854800	Weak transcription	Aorta	Aorta
44	chr11:47826000-47841600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:47831600-47845600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:47831800-47845200	Strong transcription	Primary T cells from cord blood	blood
47	chr11:47831800-47849600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:47831800-47850800	Strong transcription	GM12878-XiMat	blood
49	chr11:47831800-47868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:47832000-47846600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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