Variant report

Variant	esv3382348
Chromosome Location	chr11:76468881-76469334
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:76466515..76473526-chr11:76475390..76481084,8	K562	blood:
2	chr11:76468895..76471545-chr11:76491022..76493551,2	K562	blood:
3	chr11:76458614..76461290-chr11:76467564..76470157,3	K562	blood:
4	chr11:76465635..76468118-chr11:76468545..76471163,2	K562	blood:
5	chr11:76457514..76460124-chr11:76468465..76470695,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSKU-2	chr11:76469093-76469359	XLOC_009221
2	lnc-TSKU-2	chr11:76469093-76469327	XLOC_009221
3	lnc-TSKU-2	chr11:76469093-76469359	XLOC_009221

No data

Variant related genes	Relation type
ENSG00000254632	chromatin interactions
ENSG00000182704	chromatin interactions
NXT2	miRNA target sites

Extended variants
information (count: 16 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182760791	chr11:76468927-76468928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112148764	chr11:76468932-76468933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539314502	chr11:76469013-76469014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558989314	chr11:76469015-76469016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185485732	chr11:76469023-76469024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191617081	chr11:76469027-76469028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377190743	chr11:76469042-76469043	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182961404	chr11:76469078-76469079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1149596	chr11:76469093-76469094	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs539990157	chr11:76469106-76469107	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs560288082	chr11:76469147-76469148	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs532255078	chr11:76469225-76469226	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs376188401	chr11:76469226-76469227	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs546034491	chr11:76469266-76469267	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs188005828	chr11:76469276-76469277	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs374609279	chr11:76469312-76469313	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76457000-76474600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76459000-76469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:76461000-76473800	Weak transcription	Small Intestine	intestine
4	chr11:76463800-76469200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:76464000-76469400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:76464200-76469600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:76464200-76469800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:76464200-76470000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:76464200-76473600	Weak transcription	Right Ventricle	heart
10	chr11:76464600-76469800	Weak transcription	K562	blood
11	chr11:76464800-76470400	Weak transcription	A549	lung
12	chr11:76464800-76474000	Weak transcription	Left Ventricle	heart
13	chr11:76464800-76474000	Weak transcription	Spleen	Spleen
14	chr11:76464800-76474200	Weak transcription	Fetal Lung	lung
15	chr11:76465200-76469600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:76465200-76473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:76465400-76470200	Weak transcription	Placenta	Placenta
18	chr11:76465400-76474200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:76467400-76469000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:76467400-76470400	Enhancers	Fetal Brain Male	brain
21	chr11:76467600-76469600	Weak transcription	Esophagus	oesophagus
22	chr11:76467800-76478400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:76468000-76469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:76468000-76469600	Enhancers	Brain Germinal Matrix	brain
25	chr11:76468000-76474400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:76468200-76474200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:76468400-76469800	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:76468400-76470000	Enhancers	Fetal Brain Female	brain
29	chr11:76468400-76470000	Weak transcription	Stomach Mucosa	stomach
30	chr11:76468400-76470200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:76468600-76470000	Enhancers	Fetal Heart	heart
32	chr11:76468800-76474400	Weak transcription	HSMMtube	muscle
33	chr11:76469000-76472600	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:76469200-76473400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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