Variant report

Variant	esv3393349
Chromosome Location	chr11:4157901-4160749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr11:4158018-4158352	K562	blood:	n/a	n/a
2	POLR2A	chr11:4160304-4163787	K562	blood:	n/a	n/a
3	POLR2A	chr11:4160163-4160480	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4159839-4159889	HRCEpiC	kidney:	n/a
2	chr11:4158576-4158626	NT2-D1	testis:	n/a
3	chr11:4158576-4158626	PFSK-1	brain:	n/a
4	chr11:4159839-4159889	NB4	blood:	n/a
5	chr11:4159839-4159889	AG04450	lung:	fetal
6	chr11:4159839-4159889	GM19239	blood:	n/a
7	chr11:4159839-4159889	BE2_C	brain:	n/a
8	chr11:4158576-4158626	HRPEpiC	eye:	n/a
9	chr11:4158576-4158626	HCF	heart:	n/a
10	chr11:4158576-4158626	AG04450	lung:	fetal
11	chr11:4159839-4159889	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:4159839-4159889	PFSK-1	brain:	n/a
13	chr11:4158576-4158626	HEK293	kidney:	embryo
14	chr11:4158576-4158626	Hela-S3	cervix:	n/a
15	chr11:4159839-4159889	PANC-1	pancreas:	n/a
16	chr11:4158576-4158626	Hepatocyte	liver:	n/a
17	chr11:4158576-4158626	NB4	blood:	n/a
18	chr11:4159839-4159889	GM12891	blood:	n/a
19	chr11:4158576-4158626	LNCaP	prostate:	n/a
20	chr11:4159839-4159889	MCF10A-Er-Src	breast:	n/a
21	chr11:4159839-4159889	HCPEpiC	choroid plexus:	n/a
22	chr11:4159839-4159889	SAEC	small airway:	n/a
23	chr11:4159839-4159889	NHDF-neo	bronchial:	n/a
24	chr11:4159839-4159889	HIPEpiC	eye:	n/a
25	chr11:4158576-4158626	GM12892	blood:	n/a
26	chr11:4158576-4158626	CMK	blood:	n/a
27	chr11:4159839-4159889	U87	brain:	n/a
28	chr11:4159839-4159889	HL-60	blood:	n/a
29	chr11:4159839-4159889	HepG2	liver:	n/a
30	chr11:4158576-4158626	H1-hESC	embryonic stem cell:	embryo
31	chr11:4159839-4159889	AG10803	skin:	n/a
32	chr11:4158576-4158626	HRCEpiC	kidney:	n/a
33	chr11:4158576-4158626	HMEC	breast:	n/a
34	chr11:4159839-4159889	Hepatocyte	liver:	n/a
35	chr11:4158576-4158626	HIPEpiC	eye:	n/a
36	chr11:4158576-4158626	NHBE	bronchial:	n/a
37	chr11:4159839-4159889	HEEpiC	esophagus:	n/a
38	chr11:4158576-4158626	NH-A	brain:	n/a
39	chr11:4159839-4159889	A549	lung:	n/a
40	chr11:4159839-4159889	RPTEC	kidney:	n/a
41	chr11:4159839-4159889	NH-A	brain:	n/a
42	chr11:4159839-4159889	HRPEpiC	eye:	n/a
43	chr11:4159839-4159889	Caco-2	colon:	n/a
44	chr11:4159839-4159889	K562	blood:	n/a
45	chr11:4159839-4159889	MCF-7	breast:	n/a
46	chr11:4158576-4158626	SKMC	muscle:	n/a
47	chr11:4158576-4158626	AG09309	skin:	n/a
48	chr11:4158576-4158626	HepG2	liver:	n/a
49	chr11:4158576-4158626	HRE	kidney:	n/a
50	chr11:4159839-4159889	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4149701..4154222-chr11:4154719..4157955,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52B4-1	chr11:4159316-4159487	ENSG00000255276.1
2	lnc-OR52B4-1	chr11:4158346-4158519	ENSG00000255276.1

No data

Variant related genes	Relation type
RRM1-AS1	TF binding region
RRM1-AS1	CpG island

Extended variants
information (count: 153 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191483295	chr11:4157904-4157905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575561360	chr11:4157909-4157910	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142278085	chr11:4157943-4157944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141754906	chr11:4157965-4157966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202231748	chr11:4157968-4157969	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150877319	chr11:4157976-4157977	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562393032	chr11:4157984-4157985	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2044133	chr11:4157987-4157988	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2044132	chr11:4157991-4157992	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199604972	chr11:4157992-4157993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2044131	chr11:4157993-4157994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9666229	chr11:4158026-4158027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs11031082	chr11:4158036-4158037	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555708865	chr11:4158072-4158073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61899663	chr11:4158079-4158080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9666845	chr11:4158130-4158131	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs9666846	chr11:4158145-4158146	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs9665794	chr11:4158152-4158153	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs9666853	chr11:4158207-4158208	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs552508021	chr11:4158217-4158218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61899664	chr11:4158226-4158227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541980074	chr11:4158231-4158232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373432782	chr11:4158235-4158236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61899665	chr11:4158245-4158246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563644219	chr11:4158254-4158255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547988029	chr11:4158272-4158273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371171028	chr11:4158273-4158274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368379484	chr11:4158290-4158291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9666857	chr11:4158308-4158309	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs183672482	chr11:4158316-4158317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528067481	chr11:4158323-4158324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546401320	chr11:4158336-4158337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568114910	chr11:4158388-4158389	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535647243	chr11:4158425-4158426	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs557238805	chr11:4158447-4158448	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs374651834	chr11:4158458-4158459	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs372132002	chr11:4158515-4158516	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs569063684	chr11:4158528-4158529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539778331	chr11:4158538-4158539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3959514	chr11:4158541-4158542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577188031	chr11:4158558-4158559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541380291	chr11:4158568-4158569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577148821	chr11:4158574-4158575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553199358	chr11:4158576-4158577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574831869	chr11:4158622-4158623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541920331	chr11:4158623-4158624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563583034	chr11:4158649-4158650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111650674	chr11:4158653-4158654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530996448	chr11:4158664-4158665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9665829	chr11:4158666-4158667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:4121000-4159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:4122400-4158000	Strong transcription	Dnd41	blood
5	chr11:4122800-4158000	Strong transcription	Fetal Thymus	thymus
6	chr11:4123200-4158000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:4127600-4158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:4137800-4158000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:4138200-4160600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:4138600-4158000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:4138800-4158000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:4138800-4160400	Strong transcription	Placenta	Placenta
14	chr11:4139800-4158000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:4140400-4158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:4143200-4159400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:4144000-4159400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:4144200-4158000	Strong transcription	GM12878-XiMat	blood
19	chr11:4144800-4160800	Weak transcription	Colonic Mucosa	Colon
20	chr11:4145400-4158200	Weak transcription	Esophagus	oesophagus
21	chr11:4145600-4159400	Weak transcription	Fetal Heart	heart
22	chr11:4147200-4158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:4148400-4159200	Weak transcription	Fetal Brain Male	brain
24	chr11:4148600-4164800	Weak transcription	HSMMtube	muscle
25	chr11:4148800-4165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:4149200-4159400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:4149200-4159400	Weak transcription	Brain Anterior Caudate	brain
28	chr11:4149200-4159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:4149200-4160600	Weak transcription	Spleen	Spleen
30	chr11:4149200-4164600	Weak transcription	Gastric	stomach
31	chr11:4149400-4162200	Weak transcription	Psoas Muscle	Psoas
32	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
33	chr11:4149800-4159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:4149800-4160600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:4151600-4158000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:4151600-4158000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:4151600-4158000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:4151800-4158000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:4152400-4158000	Strong transcription	Thymus	Thymus
40	chr11:4153000-4158000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:4153000-4158000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:4153000-4158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:4153000-4158400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:4153400-4158000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:4153400-4159400	Weak transcription	NHEK	skin
46	chr11:4153400-4165200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:4153600-4159400	Weak transcription	Brain Angular Gyrus	brain
48	chr11:4154000-4158000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:4155600-4159600	Weak transcription	Aorta	Aorta
50	chr11:4155800-4158000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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