Variant report

Variant	esv2494956
Chromosome Location	chr11:71769240-71770650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71760156..71761786-chr11:71767888..71769776,2	K562	blood:
2	chr11:71769306..71770871-chr11:71783036..71785062,2	MCF-7	breast:
3	chr11:71752130..71754014-chr11:71766857..71769681,2	MCF-7	breast:
4	chr11:71750481..71755064-chr11:71770234..71773861,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137497	chromatin interactions
ENSG00000263742	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376344965	chr11:71769280-71769281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182119821	chr11:71769287-71769288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547853040	chr11:71769343-71769344	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369062745	chr11:71769353-71769354	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569959860	chr11:71769407-71769408	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566434721	chr11:71769415-71769416	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375440550	chr11:71769424-71769425	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533656701	chr11:71769441-71769442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558187451	chr11:71769495-71769496	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537435535	chr11:71769502-71769503	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577817891	chr11:71769509-71769510	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538844553	chr11:71769592-71769593	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141890354	chr11:71769600-71769601	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575832613	chr11:71769603-71769604	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543036621	chr11:71769606-71769607	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74947902	chr11:71769622-71769623	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573242964	chr11:71769648-71769649	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540742502	chr11:71769700-71769701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369694670	chr11:71769734-71769735	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565334480	chr11:71769843-71769844	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532387191	chr11:71769870-71769871	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544059198	chr11:71769891-71769892	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187177659	chr11:71769917-71769918	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529964451	chr11:71769931-71769932	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs679926	chr11:71769936-71769937	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs567026	chr11:71769952-71769953	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs565355752	chr11:71769967-71769968	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550875323	chr11:71770069-71770070	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527238234	chr11:71770074-71770075	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553303824	chr11:71770086-71770087	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551898578	chr11:71770141-71770142	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191634117	chr11:71770172-71770173	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538882178	chr11:71770201-71770202	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71477711	chr11:71770218-71770219	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557251570	chr11:71770221-71770222	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368783246	chr11:71770233-71770234	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536562289	chr11:71770250-71770251	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564294	chr11:71770269-71770270	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs678193	chr11:71770273-71770274	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs184365545	chr11:71770274-71770275	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188748702	chr11:71770278-71770279	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs677279	chr11:71770469-71770470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs564862081	chr11:71770478-71770479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562557094	chr11:71770483-71770484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373505207	chr11:71770513-71770514	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560777	chr11:71770602-71770603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs676721	chr11:71770638-71770639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:103)

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
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:71753400-71769800	Weak transcription	Psoas Muscle	Psoas
4	chr11:71754000-71769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:71754000-71769600	Weak transcription	NH-A	brain
6	chr11:71754000-71769600	Weak transcription	NHLF	lung
7	chr11:71754000-71769600	Weak transcription	Osteobl	bone
8	chr11:71754000-71771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:71754000-71772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:71754200-71769400	Weak transcription	HMEC	breast
11	chr11:71754200-71769400	Weak transcription	NHDF-Ad	bronchial
12	chr11:71754200-71769400	Weak transcription	NHEK	skin
13	chr11:71754200-71769600	Weak transcription	HSMMtube	muscle
14	chr11:71754200-71771000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:71754200-71772800	Weak transcription	Lung	lung
16	chr11:71754200-71777400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:71754200-71777600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:71754200-71777600	Weak transcription	Colonic Mucosa	Colon
19	chr11:71754200-71777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
22	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
23	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
24	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:71755800-71778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:71756600-71770600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:71757200-71777600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:71757400-71772800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:71757400-71777800	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:71757800-71769600	Weak transcription	Esophagus	oesophagus
35	chr11:71757800-71776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:71758400-71771200	Weak transcription	Fetal Stomach	stomach
37	chr11:71759400-71769800	Weak transcription	Right Ventricle	heart
38	chr11:71760000-71772600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:71760000-71777600	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart
41	chr11:71760200-71771000	Weak transcription	A549	lung
42	chr11:71760400-71769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:71760400-71771200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:71760400-71771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:71760400-71771200	Weak transcription	Primary T cells from cord blood	blood
46	chr11:71760400-71771200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:71760400-71771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:71760400-71772400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:71760400-71772600	Weak transcription	Primary B cells from cord blood	blood
50	chr11:71760400-71772800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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