Variant report

Variant	esv3462186
Chromosome Location	chr11:65641745-65643871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr11:65641400-65641981	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65643792-65644355	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:65641869-65641905	K562	blood:	n/a	n/a
4	RPC155	chr11:65641404-65641933	Hela-S3	cervix:	n/a	n/a
5	SPI1	chr11:65642024-65642166	K562	blood:	n/a	n/a
6	SREBP2	chr11:65640337-65641826	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65642046..65643611-chr7:5563687..5566581,2	K562	blood:
2	chr11:65482061..65486231-chr11:65638918..65641829,3	K562	blood:
3	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
4	chr11:65547235..65549033-chr11:65639667..65642031,2	K562	blood:

No data

Variant related genes	Relation type
CTSW	TF binding region
EFEMP2	TF binding region
ENSG00000254470	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000172977	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532808092	chr11:65641745-65641746	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs184629882	chr11:65641748-65641749	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs566114957	chr11:65641809-65641810	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs188264239	chr11:65641888-65641889	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs625652	chr11:65641931-65641932	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571755452	chr11:65641963-65641964	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs192161370	chr11:65641997-65641998	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs368839015	chr11:65642051-65642052	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs537618618	chr11:65642075-65642076	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs116997238	chr11:65642094-65642095	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs577494922	chr11:65642128-65642129	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543447546	chr11:65642228-65642229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546507169	chr11:65642229-65642230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553446839	chr11:65642237-65642238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368708858	chr11:65642387-65642388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34017216	chr11:65642389-65642390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573273386	chr11:65642399-65642400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398016444	chr11:65642408-65642409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11227333	chr11:65642417-65642418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs562169872	chr11:65642455-65642456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184642699	chr11:65642456-65642457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189311292	chr11:65642464-65642465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564102144	chr11:65642626-65642627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533291763	chr11:65642637-65642638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546480323	chr11:65642674-65642675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150181376	chr11:65642931-65642932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114735548	chr11:65643113-65643114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181966278	chr11:65643190-65643191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542406424	chr11:65643238-65643239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568907457	chr11:65643258-65643259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537522336	chr11:65643264-65643265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184278066	chr11:65643300-65643301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570949974	chr11:65643324-65643325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540184836	chr11:65643340-65643341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs688721	chr11:65643366-65643367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553658172	chr11:65643388-65643389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188808611	chr11:65643425-65643426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573285767	chr11:65643443-65643444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182071811	chr11:65643481-65643482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536554871	chr11:65643483-65643484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546569050	chr11:65643510-65643511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12792764	chr11:65643517-65643518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202048585	chr11:65643518-65643519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373997170	chr11:65643519-65643520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373762831	chr11:65643541-65643542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186166505	chr11:65643554-65643555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191467873	chr11:65643596-65643597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180834734	chr11:65643630-65643631	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564346622	chr11:65643716-65643717	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531402580	chr11:65643735-65643736	Weak transcription Active TSS	n/a	n/a	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	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
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65639600-65641800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:65640400-65641800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr11:65640600-65641800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:65641000-65641800	Enhancers	Fetal Brain Male	brain
5	chr11:65641000-65641800	Enhancers	Stomach Mucosa	stomach
6	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
7	chr11:65641200-65641800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:65641400-65641800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:65641400-65642000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:65641400-65642000	Enhancers	GM12878-XiMat	blood
11	chr11:65641400-65646600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:65641400-65647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:65641400-65647200	Weak transcription	Esophagus	oesophagus
14	chr11:65641400-65648600	Weak transcription	Spleen	Spleen
15	chr11:65641400-65648600	Weak transcription	HUVEC	blood vessel
16	chr11:65641400-65648800	Weak transcription	HSMMtube	muscle
17	chr11:65641400-65649000	Weak transcription	Right Ventricle	heart
18	chr11:65641400-65649200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:65641400-65649200	Weak transcription	Lung	lung
20	chr11:65641400-65649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:65641400-65649600	Weak transcription	Gastric	stomach
22	chr11:65641400-65649800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:65641400-65649800	Weak transcription	Osteobl	bone
24	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
26	chr11:65641400-65650000	Weak transcription	A549	lung
27	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
28	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
32	chr11:65641600-65641800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:65641600-65641800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:65641600-65641800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:65641600-65641800	Enhancers	Brain Hippocampus Middle	brain
36	chr11:65641600-65641800	Enhancers	Fetal Intestine Large	intestine
37	chr11:65641600-65641800	Enhancers	Fetal Intestine Small	intestine
38	chr11:65641600-65641800	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:65641600-65641800	Enhancers	Fetal Muscle Leg	muscle
40	chr11:65641600-65641800	Enhancers	Fetal Thymus	thymus
41	chr11:65641600-65641800	Enhancers	K562	blood
42	chr11:65641600-65641800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:65641600-65642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:65641600-65642000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:65641600-65642000	Enhancers	Primary B cells from cord blood	blood
46	chr11:65641600-65642000	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:65641600-65642000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:65641600-65642000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:65641600-65642000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:65641600-65642000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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