Variant report

Variant	nsv983173
Chromosome Location	chr11:16581343-16600284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:16594540-16594767	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:16589990-16590130	HepG2	liver:	n/a	chr11:16590062-16590073
3	CTCF	chr11:16599491-16599545	GM20000	blood:	n/a	n/a
4	E2F4	chr11:16593598-16594035	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr11:16595774-16595887	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr11:16587170-16587613	A549	lung:	n/a	n/a
7	IRF1	chr11:16595841-16595939	K562	blood:	n/a	n/a
8	IRF1	chr11:16589466-16589559	K562	blood:	n/a	n/a
9	KAP1	chr11:16596588-16596884	K562	blood:	n/a	n/a
10	MAFK	chr11:16590674-16590872	HepG2	liver:	n/a	chr11:16590792-16590803 chr11:16590792-16590803 chr11:16590791-16590802 chr11:16590791-16590802
11	MAFK	chr11:16590770-16590869	IMR90	lung:	n/a	chr11:16590792-16590803 chr11:16590792-16590803 chr11:16590791-16590802 chr11:16590791-16590802
12	PBX3	chr11:16587192-16587306	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:16584669-16584746	K562	blood:	n/a	n/a
14	POLR2A	chr11:16585781-16585845	K562	blood:	n/a	n/a
15	POLR2A	chr11:16598401-16598706	ProgFib	skin:	n/a	n/a
16	POLR2A	chr11:16594540-16594790	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr11:16589758-16589783	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:16582364-16582472	ProgFib	skin:	n/a	n/a
19	REST	chr11:16587199-16587300	PANC-1	pancreas:	n/a	n/a
20	STAT3	chr11:16589623-16589631	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:16594552-16594752	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr11:16594087-16594287	MCF10A-Er-Src	breast:	n/a	chr11:16594233-16594240
23	STAT3	chr11:16594615-16594834	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16579453..16582043-chr11:16625938..16627637,2	K562	blood:
2	chr11:16599911..16602077-chr11:16604004..16605706,2	K562	blood:
3	chr11:16419446..16421077-chr11:16594061..16596211,2	K562	blood:
4	chr11:16594124..16596937-chr11:16631797..16633860,2	K562	blood:
5	chr11:16593687..16595717-chr11:16597341..16600112,2	K562	blood:
6	chr11:16573525..16577119-chr11:16577691..16582391,5	K562	blood:
7	chr11:16591729..16594082-chr11:16601175..16604057,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf58-3	chr11:16598398-16598682	NONHSAT018178

Variant related genes	Relation type
RN7SL188P	TF binding region
ENSG00000241943	chromatin interactions
ENSG00000110693	chromatin interactions
PTPN12	miRNA target sites

Extended variants
information (count: 661 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566685138	chr11:16581362-16581363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112227506	chr11:16581389-16581390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188199855	chr11:16581390-16581391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149839018	chr11:16581420-16581421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192932219	chr11:16581422-16581423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556640117	chr11:16581452-16581453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574914711	chr11:16581468-16581469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542445268	chr11:16581475-16581476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554039059	chr11:16581620-16581621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12225686	chr11:16581631-16581632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546096652	chr11:16581709-16581710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563701468	chr11:16581711-16581712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184135494	chr11:16581716-16581717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188539156	chr11:16581737-16581738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561853779	chr11:16581744-16581745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529071298	chr11:16581761-16581762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569274122	chr11:16581792-16581793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146622029	chr11:16581869-16581870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67244957	chr11:16581904-16581905	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533225954	chr11:16581934-16581935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542086127	chr11:16581939-16581940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551716214	chr11:16581948-16581949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs180965013	chr11:16581951-16581952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554044950	chr11:16581965-16581966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144661465	chr11:16581969-16581970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72027026	chr11:16581970-16581971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147170313	chr11:16581973-16581974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111660449	chr11:16581981-16581982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187824732	chr11:16581983-16581984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201096235	chr11:16581986-16581987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572500725	chr11:16581990-16581991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556368545	chr11:16581999-16582000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112806279	chr11:16582000-16582001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568586468	chr11:16582016-16582017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374823076	chr11:16582022-16582023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112544497	chr11:16582031-16582032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113256391	chr11:16582035-16582036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535556902	chr11:16582036-16582037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371203289	chr11:16582037-16582038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10609965	chr11:16582040-16582041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112976136	chr11:16582049-16582050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553906323	chr11:16582068-16582069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539880635	chr11:16582074-16582075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79735010	chr11:16582080-16582081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113087253	chr11:16582085-16582086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564811564	chr11:16582089-16582090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532260241	chr11:16582092-16582093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67765861	chr11:16582094-16582095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74593604	chr11:16582097-16582098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543996536	chr11:16582104-16582105	Weak transcription	n/a	n/a	Overlapped CNVs	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:42 , 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	chr11:16580200-16581400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:16580600-16581600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:16581000-16581800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:16581000-16583000	Weak transcription	Fetal Heart	heart
7	chr11:16581400-16583000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:16581600-16581800	Enhancers	Left Ventricle	heart
9	chr11:16581800-16584200	Weak transcription	Left Ventricle	heart
10	chr11:16581800-16584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:16582600-16583600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:16582800-16584400	Enhancers	Psoas Muscle	Psoas
13	chr11:16583000-16583200	Enhancers	Fetal Heart	heart
14	chr11:16583000-16583800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:16583800-16594000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:16584200-16584400	Enhancers	Left Ventricle	heart
17	chr11:16584200-16584400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:16584400-16593000	Weak transcription	Psoas Muscle	Psoas
19	chr11:16584400-16605600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:16592800-16594600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:16593000-16593400	Enhancers	Left Ventricle	heart
22	chr11:16593000-16593400	Enhancers	Psoas Muscle	Psoas
23	chr11:16593400-16598400	Weak transcription	Left Ventricle	heart
24	chr11:16594000-16594800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:16594000-16595200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:16594000-16595400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:16594200-16594600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr11:16594400-16595200	Enhancers	Fetal Heart	heart
29	chr11:16594600-16594800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:16594600-16595000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:16594600-16595200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:16594800-16595400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr11:16595200-16597000	Weak transcription	Fetal Heart	heart
34	chr11:16595200-16598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:16595200-16608200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:16595400-16609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:16597000-16597200	Enhancers	Fetal Heart	heart
38	chr11:16598000-16600200	Weak transcription	Fetal Brain Male	brain
39	chr11:16598400-16598600	Genic enhancers	Left Ventricle	heart
40	chr11:16598400-16599800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:16598600-16609200	Weak transcription	Left Ventricle	heart
42	chr11:16599800-16602800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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