Variant report

Variant	esv3363793
Chromosome Location	chr11:62975063-62981962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62676265..62676873-chr11:62979808..62980394,3	K562	blood:
2	chr11:62802846..62803791-chr11:62980023..62980911,6	MCF-7	breast:
3	chr11:62980374..62982290-chr11:62983906..62985581,2	K562	blood:
4	chr11:62673078..62674101-chr11:62979871..62981035,3	K562	blood:
5	chr11:62802829..62803373-chr11:62979825..62980365,2	MCF-7	breast:
6	chr11:62895693..62896269-chr11:62979891..62980787,2	MCF-7	breast:

Extended variants
information (count: 277 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112598940	chr11:62975102-62975103	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562401955	chr11:62975116-62975117	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113305126	chr11:62975128-62975129	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531205946	chr11:62975131-62975132	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368460405	chr11:62975194-62975195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550913935	chr11:62975218-62975219	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371066732	chr11:62975253-62975254	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187615242	chr11:62975272-62975273	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58870353	chr11:62975333-62975334	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554963165	chr11:62975343-62975344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112381353	chr11:62975397-62975398	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192139390	chr11:62975398-62975399	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1830026	chr11:62975402-62975403	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117966610	chr11:62975421-62975422	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73499788	chr11:62975475-62975476	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556888423	chr11:62975504-62975505	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576923740	chr11:62975505-62975506	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115781868	chr11:62975548-62975549	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185071213	chr11:62975558-62975559	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553142560	chr11:62975577-62975578	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114046514	chr11:62975588-62975589	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541872403	chr11:62975598-62975599	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561638751	chr11:62975600-62975601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531125534	chr11:62975644-62975645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544848164	chr11:62975707-62975708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79023233	chr11:62975712-62975713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533616009	chr11:62975727-62975728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60947803	chr11:62975741-62975742	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190671307	chr11:62975818-62975819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1852067	chr11:62975874-62975875	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs58238635	chr11:62975911-62975912	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568872958	chr11:62975927-62975928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1300800	chr11:62975961-62975962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116694612	chr11:62975980-62975981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11822690	chr11:62975987-62975988	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539652002	chr11:62976025-62976026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116423298	chr11:62976034-62976035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572996450	chr11:62976124-62976125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148128393	chr11:62976129-62976130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181926981	chr11:62976130-62976131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555410460	chr11:62976194-62976195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575128546	chr11:62976233-62976234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541512690	chr11:62976266-62976267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539672634	chr11:62976273-62976274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370860732	chr11:62976286-62976287	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184549404	chr11:62976297-62976298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367697496	chr11:62976314-62976315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564835811	chr11:62976318-62976319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578171350	chr11:62976325-62976326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563300354	chr11:62976326-62976327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	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
Myelofibrosis	22110671	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	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62973600-62978800	Strong transcription	Liver	Liver
2	chr11:62975400-62975600	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:62975400-62977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:62975400-62978600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:62975600-62976400	Enhancers	Esophagus	oesophagus
6	chr11:62975600-62976800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:62975600-62977000	Enhancers	Lung	lung
8	chr11:62976600-62978200	Enhancers	Fetal Stomach	stomach
9	chr11:62976800-62978400	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:62977000-62977800	Weak transcription	Lung	lung
11	chr11:62977000-62978400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:62977200-62978600	Enhancers	Adipose Nuclei	Adipose
13	chr11:62977400-62978000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:62977800-62978800	Enhancers	Lung	lung
15	chr11:62978000-62978800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:62978400-62980400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:62978600-62978800	Enhancers	HepG2	liver
18	chr11:62978600-62980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:62978800-62979000	Genic enhancers	Liver	Liver
20	chr11:62979000-62980400	Weak transcription	Liver	Liver
21	chr11:62980200-62980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:62980400-62980600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:62980400-62981000	Genic enhancers	Liver	Liver
24	chr11:62980400-62981200	Enhancers	Adipose Nuclei	Adipose
25	chr11:62980400-62981600	Enhancers	Fetal Intestine Small	intestine
26	chr11:62980400-62981800	Enhancers	Fetal Intestine Large	intestine
27	chr11:62980400-62982000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:62980400-62982400	Enhancers	HepG2	liver
29	chr11:62981000-62988400	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links