Variant report

Variant	esv3391536
Chromosome Location	chr11:16581913-16582143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16573525..16577119-chr11:16577691..16582391,5	K562	blood:
2	chr11:16579453..16582043-chr11:16625938..16627637,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 51 )

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	rs533225954	chr11:16581934-16581935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542086127	chr11:16581939-16581940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551716214	chr11:16581948-16581949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180965013	chr11:16581951-16581952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554044950	chr11:16581965-16581966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144661465	chr11:16581969-16581970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72027026	chr11:16581970-16581971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147170313	chr11:16581973-16581974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111660449	chr11:16581981-16581982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187824732	chr11:16581983-16581984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201096235	chr11:16581986-16581987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572500725	chr11:16581990-16581991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556368545	chr11:16581999-16582000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112806279	chr11:16582000-16582001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568586468	chr11:16582016-16582017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374823076	chr11:16582022-16582023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112544497	chr11:16582031-16582032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113256391	chr11:16582035-16582036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535556902	chr11:16582036-16582037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371203289	chr11:16582037-16582038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10609965	chr11:16582040-16582041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112976136	chr11:16582049-16582050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553906323	chr11:16582068-16582069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539880635	chr11:16582074-16582075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79735010	chr11:16582080-16582081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113087253	chr11:16582085-16582086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564811564	chr11:16582089-16582090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532260241	chr11:16582092-16582093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67765861	chr11:16582094-16582095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74593604	chr11:16582097-16582098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543996536	chr11:16582104-16582105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183504395	chr11:16582105-16582106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546057489	chr11:16582107-16582108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562667835	chr11:16582108-16582109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189407407	chr11:16582111-16582112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374088418	chr11:16582128-16582129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558054601	chr11:16582129-16582130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575929804	chr11:16582138-16582139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543443537	chr11:16582142-16582143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34632936	chr11:16582143-16582144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16573000-16594600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16580000-16582800	Weak transcription	Psoas Muscle	Psoas
3	chr11:16581000-16583000	Weak transcription	Fetal Heart	heart
4	chr11:16581400-16583000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:16581800-16584200	Weak transcription	Left Ventricle	heart
6	chr11:16581800-16584200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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