Variant report

Variant	esv3332894
Chromosome Location	chr11:64046901-64049149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64046919-64046976	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:64046846-64047027	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:64046820-64046970	HBMEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:64048627-64048857	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:64048794-64049322	K562	blood:	n/a	n/a
6	POLR2A	chr11:64048769-64048778	K562	blood:	n/a	n/a
7	POLR2A	chr11:64048287-64048343	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:64047444-64047527	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:64046877-64046929	ProgFib	skin:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64046688..64048904-chr11:64060394..64063372,2	MCF-7	breast:
2	chr11:64028329..64041732-chr11:64049023..64058851,39	MCF-7	breast:
3	chr11:64041759..64043917-chr11:64044859..64047497,2	MCF-7	breast:
4	chr11:64032072..64048684-chr11:64048768..64055711,68	MCF-7	breast:
5	chr11:64032072..64048684-chr11:64048768..64055711,68	MCF-7	breast:
6	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
7	chr11:64042595..64046939-chr11:64049156..64053929,8	MCF-7	breast:
8	chr11:63992951..63995163-chr11:64045482..64048307,2	MCF-7	breast:
9	chr11:64043284..64045946-chr11:64047398..64048977,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPR137	TF binding region
ENSG00000173264	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000149761	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375253426	chr11:64046904-64046905	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs117477340	chr11:64046914-64046915	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs147303868	chr11:64046942-64046943	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs552342843	chr11:64046948-64046949	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs71468665	chr11:64046959-64046960	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs185198826	chr11:64046974-64046975	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs113825200	chr11:64046976-64046977	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs71468666	chr11:64046990-64046991	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs546500881	chr11:64047008-64047009	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs537704800	chr11:64047009-64047010	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs371692328	chr11:64047010-64047011	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs528525639	chr11:64047023-64047024	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs548545284	chr11:64047026-64047027	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs190389588	chr11:64047032-64047033	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs376416133	chr11:64047034-64047035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537562159	chr11:64047063-64047064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs570934287	chr11:64047083-64047084	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs372797758	chr11:64047115-64047116	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs34255968	chr11:64047138-64047139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs687735	chr11:64047152-64047153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574159636	chr11:64047165-64047166	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs181258129	chr11:64047170-64047171	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs35718358	chr11:64047235-64047236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs76871862	chr11:64047237-64047238	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs74411510	chr11:64047256-64047257	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs79429697	chr11:64047262-64047263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571065152	chr11:64047268-64047269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs538046856	chr11:64047345-64047346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs12184422	chr11:64047360-64047361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112595668	chr11:64047398-64047399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs553435079	chr11:64047437-64047438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs573462945	chr11:64047483-64047484	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs373362544	chr11:64047512-64047513	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs373907756	chr11:64047516-64047517	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs542602201	chr11:64047525-64047526	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs555358689	chr11:64047527-64047528	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs11231742	chr11:64047556-64047557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573415459	chr11:64047572-64047573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs369730302	chr11:64047586-64047587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs529314639	chr11:64047593-64047594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs12271952	chr11:64047600-64047601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184271158	chr11:64047605-64047606	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs376033066	chr11:64047617-64047618	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs560221362	chr11:64047631-64047632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs529202127	chr11:64047648-64047649	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs188234250	chr11:64047653-64047654	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs376564586	chr11:64047660-64047661	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs180935436	chr11:64047676-64047677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs376974854	chr11:64047685-64047686	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs34298731	chr11:64047687-64047688	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64039600-64049000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:64039600-64050400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:64039600-64050800	Weak transcription	Psoas Muscle	Psoas
4	chr11:64039600-64051000	Weak transcription	Fetal Kidney	kidney
5	chr11:64039600-64051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:64039600-64051400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64039600-64051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:64039600-64051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:64039800-64049000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:64039800-64050000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:64039800-64050800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:64039800-64051000	Weak transcription	Primary B cells from cord blood	blood
13	chr11:64039800-64051000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:64039800-64051000	Weak transcription	HSMM	muscle
15	chr11:64039800-64051000	Weak transcription	HUVEC	blood vessel
16	chr11:64039800-64051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:64040000-64049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:64040000-64050600	Strong transcription	Fetal Stomach	stomach
19	chr11:64040000-64050800	Weak transcription	Fetal Brain Male	brain
20	chr11:64040000-64051200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:64040200-64047400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:64040200-64047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:64040200-64051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:64040400-64050600	Weak transcription	GM12878-XiMat	blood
25	chr11:64040400-64051000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:64041400-64051000	Weak transcription	HepG2	liver
27	chr11:64041600-64047200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:64042200-64047200	Genic enhancers	Placenta	Placenta
29	chr11:64042200-64050800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:64042400-64047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:64042400-64047000	Strong transcription	Brain Germinal Matrix	brain
32	chr11:64042400-64047000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:64042400-64050600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:64042600-64047000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:64042600-64047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:64042600-64047000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr11:64042600-64047000	Strong transcription	Fetal Lung	lung
38	chr11:64042600-64047000	Strong transcription	Lung	lung
39	chr11:64042600-64047200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:64042600-64047200	Strong transcription	Liver	Liver
41	chr11:64042600-64047400	Strong transcription	Brain Anterior Caudate	brain
42	chr11:64042600-64047400	Strong transcription	Fetal Thymus	thymus
43	chr11:64042600-64050800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:64042800-64047000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:64042800-64047000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:64043000-64047000	Strong transcription	Fetal Intestine Large	intestine
47	chr11:64043000-64047400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:64043200-64047000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:64043400-64047200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:64043400-64051200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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