Variant report

Variant	esv1796911
Chromosome Location	chr11:93642877-93688134
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93654636..93655438-chr11:93916836..93917602,2	MCF-7	breast:
2	chr11:93667365..93670015-chr11:93861067..93863754,2	MCF-7	breast:
3	chr11:93473884..93475767-chr11:93642001..93643799,2	MCF-7	breast:
4	chr11:93654234..93656516-chr11:93799480..93801603,2	K562	blood:
5	chr11:93654633..93655604-chr11:93769016..93769927,3	K562	blood:
6	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
7	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:
8	chr11:93652951..93654960-chr11:93861223..93864128,2	MCF-7	breast:
9	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
10	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
11	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
12	chr11:93667177..93668967-chr11:93861410..93863273,2	K562	blood:
13	chr11:93654497..93655291-chr11:93768975..93769708,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166012	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000110218	chromatin interactions
ENSG00000272709	chromatin interactions

Extended variants
information (count: 1725 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12789389	chr11:93642877-93642878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534265322	chr11:93642887-93642888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552239283	chr11:93642941-93642942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570541292	chr11:93642966-93642967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545113597	chr11:93642967-93642968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529677265	chr11:93642982-93642983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574741727	chr11:93642983-93642984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535690200	chr11:93642990-93642991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554307055	chr11:93643038-93643039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570920422	chr11:93643063-93643064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540350530	chr11:93643076-93643077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11020587	chr11:93643089-93643090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372188714	chr11:93643126-93643127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192222641	chr11:93643136-93643137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544186511	chr11:93643145-93643146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79406703	chr11:93643157-93643158	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529974222	chr11:93643159-93643160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200329214	chr11:93643189-93643190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541675301	chr11:93643200-93643201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560330994	chr11:93643245-93643246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527475378	chr11:93643262-93643263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552302587	chr11:93643273-93643274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184007441	chr11:93643336-93643337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189140515	chr11:93643359-93643360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111636705	chr11:93643429-93643430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11020588	chr11:93643447-93643448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs68023324	chr11:93643496-93643497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538811237	chr11:93643499-93643500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568674229	chr11:93643531-93643532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536179442	chr11:93643535-93643536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547904287	chr11:93643559-93643560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1032934	chr11:93643640-93643641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190358099	chr11:93643683-93643684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536786092	chr11:93643701-93643702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143462314	chr11:93643761-93643762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs10831143	chr11:93643807-93643808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576966407	chr11:93643819-93643820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7930016	chr11:93643852-93643853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs978950	chr11:93643906-93643907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376067374	chr11:93643919-93643920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5793662	chr11:93644006-93644007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397772962	chr11:93644008-93644009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377546889	chr11:93644009-93644010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574337068	chr11:93644019-93644020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs978951	chr11:93644046-93644047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539267653	chr11:93644053-93644054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560187567	chr11:93644087-93644088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182910913	chr11:93644088-93644089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs978952	chr11:93644095-93644096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557043400	chr11:93644120-93644121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93638400-93643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:93641200-93643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93641600-93652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:93642000-93655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93642200-93649800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:93643000-93643800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:93646400-93647000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:93653000-93653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:93655000-93655400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:93655000-93655400	Enhancers	GM12878-XiMat	blood
11	chr11:93655000-93655600	Enhancers	NHEK	skin
12	chr11:93655000-93656400	Enhancers	HMEC	breast
13	chr11:93655200-93655400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:93655200-93655800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:93655200-93656400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:93655200-93656800	Enhancers	HepG2	liver
17	chr11:93655600-93656600	Enhancers	Fetal Intestine Small	intestine
18	chr11:93656000-93656200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:93656200-93656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:93656200-93656600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:93656400-93669000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:93669000-93670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:93669400-93670200	Enhancers	Fetal Brain Female	brain
24	chr11:93669400-93670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93669400-93670400	Enhancers	NHEK	skin
26	chr11:93669400-93671800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:93669600-93669800	Enhancers	HMEC	breast
28	chr11:93669600-93670000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:93669600-93670400	Enhancers	Fetal Brain Male	brain
30	chr11:93669800-93670200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:93670000-93671200	Weak transcription	HMEC	breast
32	chr11:93670400-93671400	Weak transcription	NHEK	skin
33	chr11:93670400-93671600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:93670400-93671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:93670400-93671600	Weak transcription	Fetal Brain Male	brain
36	chr11:93671200-93675600	Enhancers	HMEC	breast
37	chr11:93671400-93672200	Enhancers	NHEK	skin
38	chr11:93671600-93672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:93671600-93675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:93671800-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:93672000-93672400	Enhancers	NH-A	brain
42	chr11:93672000-93673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:93672000-93673400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:93672200-93672600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
45	chr11:93672200-93672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:93672200-93672600	Flanking Active TSS	NHEK	skin
47	chr11:93672200-93673200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:93672600-93674800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:93672600-93675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:93672600-93675600	Enhancers	NHEK	skin

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