Variant report

Variant	esv3406752
Chromosome Location	chr11:64378476-64382974
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:
2	chr11:64381148..64383692-chr11:64398093..64400350,2	K562	blood:
3	chr11:64378103..64380693-chr11:64382782..64384432,2	MCF-7	breast:
4	chr11:64380600..64382415-chr11:64384345..64386104,2	K562	blood:
5	chr11:64378103..64380693-chr11:64382782..64384432,2	MCF-7	breast:
6	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
7	chr11:64382022..64384034-chr11:64386590..64389266,3	K562	blood:
8	chr11:64359724..64361589-chr11:64382064..64384516,2	K562	blood:
9	chr11:64330087..64331610-chr11:64382078..64384339,2	K562	blood:
10	chr11:64382824..64385370-chr11:64385772..64388101,2	MCF-7	breast:
11	chr11:64377074..64379165-chr11:64387465..64390419,3	MCF-7	breast:
12	chr11:64357096..64359483-chr11:64381226..64383774,2	MCF-7	breast:
13	chr11:64378729..64384620-chr11:64390425..64395491,5	K562	blood:
14	chr11:64382637..64384423-chr11:64413492..64416001,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197891	chromatin interactions
ENSG00000237410	chromatin interactions
ENSG00000110076	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 99 )

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	rs372557408	chr11:64378506-64378507	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371798242	chr11:64378522-64378523	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535927265	chr11:64378545-64378546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546224416	chr11:64378550-64378551	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555867200	chr11:64378558-64378559	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190462122	chr11:64378580-64378581	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537807826	chr11:64378634-64378635	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56055639	chr11:64378655-64378656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558180282	chr11:64378659-64378660	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578181915	chr11:64378749-64378750	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540956022	chr11:64378760-64378761	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560293429	chr11:64378764-64378765	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553268108	chr11:64378771-64378772	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573869167	chr11:64378776-64378777	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542827665	chr11:64378778-64378779	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556274460	chr11:64378791-64378792	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142074933	chr11:64378816-64378817	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531437144	chr11:64378843-64378844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182126003	chr11:64378875-64378876	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564933521	chr11:64378893-64378894	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527573817	chr11:64379064-64379065	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs36009341	chr11:64379070-64379071	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145797532	chr11:64379129-64379130	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547694583	chr11:64379172-64379173	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565520346	chr11:64379255-64379256	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567585581	chr11:64379287-64379288	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186848150	chr11:64379293-64379294	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550007916	chr11:64379337-64379338	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569372911	chr11:64379340-64379341	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150556807	chr11:64379341-64379342	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557852529	chr11:64379348-64379349	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191660432	chr11:64379351-64379352	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533960964	chr11:64379366-64379367	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554010405	chr11:64379378-64379379	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574003588	chr11:64379417-64379418	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377107204	chr11:64379519-64379520	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542766131	chr11:64379525-64379526	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182129160	chr11:64379532-64379533	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576045363	chr11:64379567-64379568	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111974056	chr11:64379582-64379583	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564702194	chr11:64379587-64379588	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11821208	chr11:64379593-64379594	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527247967	chr11:64379606-64379607	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561203965	chr11:64379621-64379622	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185626122	chr11:64379630-64379631	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547429152	chr11:64379645-64379646	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190436681	chr11:64379669-64379670	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182266953	chr11:64379689-64379690	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530066325	chr11:64379723-64379724	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549993754	chr11:64379724-64379725	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373400-64379000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
3	chr11:64375600-64379000	Weak transcription	Lung	lung
4	chr11:64375800-64379800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:64376000-64379200	Enhancers	Primary T cells from cord blood	blood
6	chr11:64376000-64383200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:64376200-64383000	Enhancers	Fetal Thymus	thymus
8	chr11:64376400-64379000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:64376400-64379000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:64376400-64382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:64376400-64383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:64376600-64379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:64376600-64380200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:64376600-64380200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:64376600-64380400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64376600-64380600	Weak transcription	Aorta	Aorta
17	chr11:64376600-64380600	Weak transcription	Fetal Lung	lung
18	chr11:64376600-64382200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:64376600-64382600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:64376600-64382600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:64376600-64382600	Weak transcription	Osteobl	bone
22	chr11:64376600-64383200	Weak transcription	Fetal Kidney	kidney
23	chr11:64376600-64386600	Weak transcription	Right Atrium	heart
24	chr11:64376600-64387000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:64376600-64387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64376600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:64376800-64380000	Enhancers	Thymus	Thymus
28	chr11:64376800-64381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:64376800-64382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:64376800-64382800	Weak transcription	Fetal Brain Male	brain
31	chr11:64376800-64387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:64377000-64382800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:64377200-64378600	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:64377200-64378800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:64377200-64379000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:64377200-64380000	Enhancers	Spleen	Spleen
37	chr11:64377400-64378600	Weak transcription	Primary B cells from cord blood	blood
38	chr11:64377400-64380200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:64377400-64383400	Strong transcription	Fetal Intestine Small	intestine
40	chr11:64377400-64384000	Weak transcription	Ovary	ovary
41	chr11:64377600-64385800	Strong transcription	Fetal Stomach	stomach
42	chr11:64377600-64387000	Strong transcription	Fetal Brain Female	brain
43	chr11:64377800-64382800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:64377800-64386200	Strong transcription	Brain Germinal Matrix	brain
45	chr11:64378000-64380000	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:64378000-64386000	Weak transcription	Fetal Intestine Large	intestine
47	chr11:64378200-64379800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:64378400-64379400	Enhancers	Brain Angular Gyrus	brain
49	chr11:64378400-64380200	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:64378400-64380400	Enhancers	Brain Anterior Caudate	brain

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