Variant report

Variant	esv2518130
Chromosome Location	chr11:10385656-10387074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10326248..10329160-chr11:10385619..10388445,3	MCF-7	breast:
2	chr11:10326162..10327746-chr11:10386723..10389027,2	MCF-7	breast:
3	chr11:10227014..10228870-chr11:10386230..10387904,2	K562	blood:
4	chr11:9779526..9781252-chr11:10386817..10389355,2	K562	blood:
5	chr11:10386948..10389618-chr11:10548931..10550631,2	K562	blood:

Variant related genes	Relation type
ENSG00000148926	chromatin interactions
ENSG00000245522	chromatin interactions
ENSG00000246273	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564229241	chr11:10385697-10385698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576027053	chr11:10385704-10385705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192136754	chr11:10385705-10385706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547356678	chr11:10385708-10385709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184529619	chr11:10385711-10385712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139040688	chr11:10385737-10385738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548429132	chr11:10385743-10385744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369881052	chr11:10385745-10385746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373608112	chr11:10385812-10385813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568533861	chr11:10385836-10385837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537291937	chr11:10385862-10385863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377304481	chr11:10385940-10385941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538335522	chr11:10385961-10385962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189411323	chr11:10385990-10385991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567335391	chr11:10386002-10386003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2923082	chr11:10386083-10386084	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539759196	chr11:10386084-10386085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372749206	chr11:10386131-10386132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73403966	chr11:10386146-10386147	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186195678	chr11:10386147-10386148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56296214	chr11:10386170-10386171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189554673	chr11:10386245-10386246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181562667	chr11:10386246-10386247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186375861	chr11:10386250-10386251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560672146	chr11:10386356-10386357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569743671	chr11:10386393-10386394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564290845	chr11:10386399-10386400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190446599	chr11:10386437-10386438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77381138	chr11:10386474-10386475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2860284	chr11:10386476-10386477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183098276	chr11:10386477-10386478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528519352	chr11:10386480-10386481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548559312	chr11:10386492-10386493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145967090	chr11:10386551-10386552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371433573	chr11:10386552-10386553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550762929	chr11:10386566-10386567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570730356	chr11:10386683-10386684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370664572	chr11:10386687-10386688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562736385	chr11:10386717-10386718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531758928	chr11:10386723-10386724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558869591	chr11:10386738-10386739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566813240	chr11:10386739-10386740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139884703	chr11:10386783-10386784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs80222734	chr11:10386796-10386797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551569064	chr11:10386802-10386803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113491487	chr11:10386842-10386843	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs565003769	chr11:10386866-10386867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs79855010	chr11:10386951-10386952	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs575099297	chr11:10386964-10386965	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs565951951	chr11:10386985-10386986	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10373600-10388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:10374200-10386400	Weak transcription	Small Intestine	intestine
3	chr11:10376400-10388000	Weak transcription	Psoas Muscle	Psoas
4	chr11:10380600-10388000	Weak transcription	Lung	lung
5	chr11:10381000-10388000	Weak transcription	Ovary	ovary
6	chr11:10381000-10388200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:10381200-10387800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:10382200-10387200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:10384600-10387600	Weak transcription	NHEK	skin
10	chr11:10384600-10388000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:10386400-10387200	Enhancers	Small Intestine	intestine
12	chr11:10386400-10387400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:10386600-10386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:10386600-10386800	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:10386600-10386800	Enhancers	Pancreas	Pancrea
16	chr11:10386600-10386800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:10386600-10386800	Enhancers	A549	lung
18	chr11:10386600-10386800	Enhancers	HUVEC	blood vessel
19	chr11:10386600-10387000	Enhancers	Fetal Intestine Large	intestine
20	chr11:10386600-10387400	Enhancers	Fetal Intestine Small	intestine
21	chr11:10386800-10387400	Weak transcription	A549	lung
22	chr11:10386800-10387800	Weak transcription	HUVEC	blood vessel
23	chr11:10386800-10388000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:10386800-10388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:10386800-10388000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:10386800-10388000	Weak transcription	Pancreas	Pancrea
27	chr11:10387000-10387200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:10387000-10388000	Weak transcription	Fetal Intestine Large	intestine
29	chr11:10387000-10388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:10387000-10388000	Enhancers	Skeletal Muscle Male	skeletal muscle

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