Variant report

Variant	esv3404275
Chromosome Location	chr11:64145276-64149574
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64146057..64148116-chr11:64151039..64152663,2	K562	blood:
2	chr11:64138832..64141064-chr11:64144568..64147426,2	K562	blood:
3	chr11:64136184..64137817-chr11:64148842..64150477,2	K562	blood:
4	chr11:64146240..64148352-chr11:64158403..64160788,2	K562	blood:
5	chr11:64144008..64147630-chr11:64148527..64151012,3	K562	blood:
6	chr11:64126463..64128079-chr11:64145484..64147354,2	MCF-7	breast:
7	chr11:64136140..64139047-chr11:64144668..64147875,3	MCF-7	breast:
8	chr11:64146057..64148574-chr11:64151163..64153130,2	K562	blood:
9	chr11:64125356..64127371-chr11:64145255..64147787,2	MCF-7	breast:
10	chr11:64144008..64147630-chr11:64148527..64151012,3	K562	blood:
11	chr11:64139080..64141620-chr11:64144256..64148089,4	MCF-7	breast:
12	chr11:64143270..64145946-chr11:64150525..64152555,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162302	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187460458	chr11:64145417-64145418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138896056	chr11:64145471-64145472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189877303	chr11:64145491-64145492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77985474	chr11:64145504-64145505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373541319	chr11:64145505-64145506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536699564	chr11:64145558-64145559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553099031	chr11:64145568-64145569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528453411	chr11:64145601-64145602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201147347	chr11:64145654-64145655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370409601	chr11:64145657-64145658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181931176	chr11:64145698-64145699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568459117	chr11:64145719-64145720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537504667	chr11:64145739-64145740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139313940	chr11:64145792-64145793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376541253	chr11:64145874-64145875	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571020730	chr11:64145881-64145882	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557772444	chr11:64145973-64145974	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113384092	chr11:64145975-64145976	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186192419	chr11:64146009-64146010	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538561911	chr11:64146055-64146056	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190069287	chr11:64146058-64146059	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371140038	chr11:64146140-64146141	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182705163	chr11:64146155-64146156	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145565231	chr11:64146163-64146164	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369320200	chr11:64146181-64146182	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563957191	chr11:64146183-64146184	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577389529	chr11:64146185-64146186	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558301916	chr11:64146212-64146213	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540164408	chr11:64146214-64146215	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575125024	chr11:64146218-64146219	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576416013	chr11:64146262-64146263	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372676552	chr11:64146285-64146286	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs641168	chr11:64146289-64146290	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184998504	chr11:64146316-64146317	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562072333	chr11:64146446-64146447	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61886927	chr11:64146518-64146519	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141379063	chr11:64146526-64146527	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574299228	chr11:64146538-64146539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535014568	chr11:64146606-64146607	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574348454	chr11:64146625-64146626	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553121604	chr11:64146640-64146641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571080960	chr11:64146666-64146667	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540020229	chr11:64146690-64146691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547360237	chr11:64146701-64146702	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540179013	chr11:64146777-64146778	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567171508	chr11:64146794-64146795	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543178571	chr11:64146815-64146816	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189857326	chr11:64146816-64146817	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78193152	chr11:64146823-64146824	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578038247	chr11:64146853-64146854	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 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
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	21785460	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
Melanoma	20877625	CNVD
Autism	22209245	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64127800-64146800	Weak transcription	Fetal Heart	heart
2	chr11:64134400-64150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:64135600-64145800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:64135600-64148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64136000-64145800	Weak transcription	HSMMtube	muscle
7	chr11:64138000-64145800	Weak transcription	Osteobl	bone
8	chr11:64138000-64146000	Weak transcription	HMEC	breast
9	chr11:64138200-64146000	Weak transcription	Pancreas	Pancrea
10	chr11:64138200-64147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64138200-64151600	Weak transcription	Left Ventricle	heart
12	chr11:64138800-64146200	Weak transcription	Esophagus	oesophagus
13	chr11:64139000-64146000	Weak transcription	Right Ventricle	heart
14	chr11:64139600-64145800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:64139600-64146200	Weak transcription	Gastric	stomach
16	chr11:64139600-64147400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:64139600-64148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:64139800-64145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:64139800-64145800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:64139800-64147400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:64140000-64145400	Weak transcription	Fetal Brain Male	brain
22	chr11:64140000-64145800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:64140000-64145800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:64140000-64146000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:64140000-64148000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:64140000-64148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:64140000-64152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:64140200-64145800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:64140400-64145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:64140400-64145800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:64140400-64145800	Weak transcription	NHEK	skin
32	chr11:64140800-64146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:64141000-64146400	Weak transcription	Spleen	Spleen
34	chr11:64141200-64145600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:64141400-64146000	Weak transcription	Fetal Thymus	thymus
37	chr11:64143600-64147400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:64144400-64145800	Weak transcription	Adipose Nuclei	Adipose
39	chr11:64145000-64146800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:64145400-64147000	Enhancers	Fetal Brain Male	brain
41	chr11:64145600-64146400	Enhancers	Brain Hippocampus Middle	brain
42	chr11:64145600-64146400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:64145800-64146000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:64145800-64146000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:64145800-64146000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:64145800-64146000	Enhancers	NHEK	skin
47	chr11:64145800-64146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:64145800-64146200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:64145800-64146200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:64145800-64146400	Enhancers	Brain Substantia Nigra	brain

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