Variant report

Variant	esv3440428
Chromosome Location	chr11:68302102-68302634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:68302620-68302770	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr11:68302540-68302690	BE2_C	brain:	n/a	n/a
3	CTCF	chr11:68302620-68302770	BE2_C	brain:	n/a	n/a
4	CTCF	chr11:68302560-68302710	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr11:68302611-68302699	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr11:68302604-68302979	SK-N-SH_RA	brain:	n/a	chr11:68302866-68302873
7	MXI1	chr11:68302084-68304437	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr11:68302517-68302795	SK-N-SH_RA	brain:	n/a	n/a
9	RAD21	chr11:68302567-68303026	SK-N-SH_RA	brain:	n/a	n/a
10	RAD21	chr11:68302114-68303079	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr11:68302486-68303117	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68301595..68304272-chr11:68304634..68307122,2	K562	blood:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000110075	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138196088	chr11:68302114-68302115	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538871791	chr11:68302139-68302140	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539130848	chr11:68302165-68302166	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559355197	chr11:68302167-68302168	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557847872	chr11:68302169-68302170	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576184796	chr11:68302199-68302200	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537246728	chr11:68302214-68302215	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555583989	chr11:68302217-68302218	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369187392	chr11:68302224-68302225	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567393040	chr11:68302273-68302274	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376143438	chr11:68302274-68302275	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573979856	chr11:68302331-68302332	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541739050	chr11:68302341-68302342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559462008	chr11:68302358-68302359	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577983385	chr11:68302366-68302367	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34228934	chr11:68302399-68302400	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545131080	chr11:68302404-68302405	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563774371	chr11:68302443-68302444	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12285993	chr11:68302538-68302539	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116197470	chr11:68302631-68302632	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
small cell lung cancer	17426248	CNVD
Gastric cancer	18160780	CNVD
Lung cancer	21569311	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
4	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:68277600-68336000	Strong transcription	Dnd41	blood
6	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:68286400-68303200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:68288600-68309000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:68292600-68308200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:68293200-68302200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:68295400-68305200	Weak transcription	HMEC	breast
12	chr11:68295400-68306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:68295600-68302600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:68295600-68305600	Weak transcription	Fetal Brain Female	brain
15	chr11:68295800-68306200	Weak transcription	HSMMtube	muscle
16	chr11:68296200-68302600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:68296400-68302600	Weak transcription	Esophagus	oesophagus
18	chr11:68296400-68305400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:68296400-68306000	Weak transcription	Fetal Heart	heart
20	chr11:68296400-68307800	Strong transcription	GM12878-XiMat	blood
21	chr11:68296600-68303800	Weak transcription	Brain Angular Gyrus	brain
22	chr11:68296600-68303800	Weak transcription	Spleen	Spleen
23	chr11:68296600-68304000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:68296600-68304000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:68296600-68304200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:68296600-68304200	Weak transcription	Fetal Kidney	kidney
27	chr11:68296600-68305200	Weak transcription	Placenta	Placenta
28	chr11:68296600-68305400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:68296600-68305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:68296600-68306000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:68296600-68306000	Weak transcription	Brain Germinal Matrix	brain
32	chr11:68296600-68306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:68296600-68306600	Weak transcription	NHLF	lung
34	chr11:68296600-68309200	Weak transcription	NH-A	brain
35	chr11:68296600-68316800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:68296800-68303800	Weak transcription	Small Intestine	intestine
37	chr11:68296800-68304000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:68296800-68305400	Weak transcription	Fetal Lung	lung
39	chr11:68296800-68307200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:68297400-68304000	Weak transcription	Osteobl	bone
41	chr11:68297400-68308600	Strong transcription	Fetal Thymus	thymus
42	chr11:68297600-68305200	Weak transcription	HUVEC	blood vessel
43	chr11:68297800-68304000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:68298200-68302600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:68298200-68304000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:68298400-68302800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:68298600-68302400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:68298600-68302800	Strong transcription	Thymus	Thymus
49	chr11:68299000-68303200	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:68299200-68302800	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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