Variant report

Variant	esv3468619
Chromosome Location	chr11:9584484-9586097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9551354..9552960-chr11:9583061..9585366,2	MCF-7	breast:
2	chr11:9577852..9580847-chr11:9583001..9585793,2	K562	blood:
3	chr11:9555259..9558705-chr11:9585485..9589925,6	MCF-7	breast:
4	chr11:9571631..9575583-chr11:9586034..9589231,7	K562	blood:
5	chr11:9568845..9571687-chr11:9584887..9588647,3	MCF-7	breast:
6	chr11:9480505..9483830-chr11:9585814..9588292,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61876829	chr11:9584505-9584506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541174330	chr11:9584710-9584711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180717480	chr11:9584718-9584719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560183943	chr11:9584721-9584722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529761971	chr11:9584746-9584747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549538989	chr11:9584833-9584834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7115385	chr11:9584874-9584875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs10840261	chr11:9584899-9584900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76640077	chr11:9584907-9584908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185168442	chr11:9584963-9584964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528684343	chr11:9585051-9585052	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548727588	chr11:9585081-9585082	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189288499	chr11:9585106-9585107	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568481712	chr11:9585114-9585115	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537533131	chr11:9585237-9585238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562164575	chr11:9585253-9585254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7929469	chr11:9585259-9585260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs369438446	chr11:9585267-9585268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538597523	chr11:9585315-9585316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558431658	chr11:9585337-9585338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572265066	chr11:9585350-9585351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540884956	chr11:9585365-9585366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554726252	chr11:9585415-9585416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145254363	chr11:9585416-9585417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116404558	chr11:9585453-9585454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563319307	chr11:9585505-9585506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532145260	chr11:9585506-9585507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545773031	chr11:9585550-9585551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181241343	chr11:9585556-9585557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528752744	chr11:9585619-9585620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551068199	chr11:9585755-9585756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548529351	chr11:9585801-9585802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147610911	chr11:9585844-9585845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529210985	chr11:9585919-9585920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139531427	chr11:9585933-9585934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186512983	chr11:9585973-9585974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558055027	chr11:9585974-9585975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539458420	chr11:9585976-9585977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199536165	chr11:9585982-9585983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149692190	chr11:9586072-9586073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9547800-9586600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:9550600-9586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:9566400-9587400	Weak transcription	Psoas Muscle	Psoas
4	chr11:9573800-9584800	Weak transcription	Left Ventricle	heart
5	chr11:9573800-9585000	Weak transcription	Lung	lung
6	chr11:9573800-9586000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:9573800-9586600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:9573800-9586600	Weak transcription	Pancreas	Pancrea
9	chr11:9573800-9587800	Weak transcription	Gastric	stomach
10	chr11:9579000-9590200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:9582800-9586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:9583000-9590200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:9583200-9586400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:9583600-9585200	Enhancers	NHEK	skin
15	chr11:9583800-9585200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:9583800-9585200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:9583800-9585200	Enhancers	HMEC	breast
18	chr11:9584000-9586600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
20	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
21	chr11:9584400-9584600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:9584400-9584600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:9584400-9584800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:9584400-9585200	Enhancers	Esophagus	oesophagus
25	chr11:9584400-9585200	Enhancers	Fetal Heart	heart
26	chr11:9584600-9585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:9584600-9585000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:9584800-9585200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:9584800-9585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:9584800-9585200	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:9584800-9585200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:9584800-9585200	Enhancers	Left Ventricle	heart
33	chr11:9584800-9585200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:9584800-9585200	Enhancers	HSMM	muscle
35	chr11:9584800-9586600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:9585000-9585200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:9585000-9585200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:9585000-9585200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:9585000-9585200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:9585000-9585200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9585000-9585200	ZNF genes & repeats	Lung	lung
42	chr11:9585000-9585200	Enhancers	GM12878-XiMat	blood
43	chr11:9585000-9585400	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:9585000-9589600	Weak transcription	Primary B cells from cord blood	blood
45	chr11:9585200-9585400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:9585200-9585400	Enhancers	HSMMtube	muscle
47	chr11:9585200-9586200	Weak transcription	Fetal Heart	heart
48	chr11:9585200-9586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:9585200-9586400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:9585200-9586400	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links