Variant report

Variant	nsv972916
Chromosome Location	chr11:18621468-18629611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:18628425-18628506	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr11:18627417-18627485	GM10266	blood:	n/a	n/a
3	POLR2A	chr11:18627076-18627858	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:18628421-18629034	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:18627469-18627492	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:18629554-18629816	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:18626081-18626213	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:18627086-18627894	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:18625327-18625360	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:18627333-18627702	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:18627191-18627296	A549	lung:	n/a	n/a
12	POLR2A	chr11:18627113-18627921	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:18628527-18628557	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:18624521-18624526	K562	blood:	n/a	n/a
15	POLR2A	chr11:18627008-18628020	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:18628905-18628986	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:18627068-18627411	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:18627640-18627785	A549	lung:	n/a	n/a
19	POLR2A	chr11:18626816-18627878	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:18625821-18626097	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:18627147-18627855	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:18626972-18627914	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:18626463-18626610	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:18628698-18630579	K562	blood:	n/a	n/a
25	POLR2A	chr11:18628366-18628399	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:18626327-18626332	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:18625759-18626205	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:18627762-18627776	ProgFib	skin:	n/a	n/a
29	POLR2A	chr11:18626218-18626501	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:18624594-18624619	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:18629378-18630475	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:18624405-18624455	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:18625627-18626083	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr11:18628411-18628743	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:18627428-18627883	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:18628361-18628387	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:18627205-18627668	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:18625210-18625323	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:18624626-18624713	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:18625688-18626088	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:18625922-18626529	K562	blood:	n/a	n/a
42	POLR2A	chr11:18625941-18625968	A549	lung:	n/a	n/a
43	POLR2A	chr11:18627659-18627776	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:18625767-18626182	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:18626812-18628058	K562	blood:	n/a	n/a
46	STAT3	chr11:18629071-18629209	MCF10A-Er-Src	breast:	n/a	n/a
47	TAL1	chr11:18624215-18624225	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18625129..18627027-chr11:18654830..18656927,2	MCF-7	breast:
2	chr11:18616692..18618721-chr11:18623253..18625857,2	MCF-7	breast:
3	chr11:18621999..18623639-chr11:18627567..18629893,2	K562	blood:
4	chr11:18530150..18532060-chr11:18629493..18631954,2	K562	blood:
5	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:
6	chr11:18618133..18619654-chr11:18626232..18627753,2	K562	blood:
7	chr11:18615620..18618161-chr11:18620162..18622897,2	K562	blood:
8	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:
9	chr11:18620834..18624812-chr11:18626508..18629518,4	K562	blood:
10	chr11:18621999..18623639-chr11:18627567..18629893,2	K562	blood:
11	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
12	chr11:18626711..18629551-chr11:18638352..18640107,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM86A-2	chr11:18625319-18625427	NONHSAT018307
2	lnc-TMEM86A-2	chr11:18621336-18621544	ENSG00000247595
3	lnc-TMEM86A-2	chr11:18622639-18622711	NONHSAT018307
4	lnc-TMEM86A-2	chr11:18624705-18624742	NONHSAT018307
5	lnc-TMEM86A-2	chr11:18621354-18621544	NONHSAT018307
6	lnc-TMEM86A-2	chr11:18625319-18625461	NONHSAT018298
7	lnc-TMEM86A-2	chr11:18622639-18622711	ENSG00000247595
8	lnc-TMEM86A-2	chr11:18623021-18623311	ENSG00000247595
9	lnc-TMEM86A-2	chr11:18624705-18624742	NONHSAT018298

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SPTY2D1	hsa-miR-124-3p	chr11:18629035-18629055
2	SPTY2D1	hsa-miR-124-3p	chr11:18629041-18629035
3	SPTY2D1	hsa-miR-19b-3p	chr11:18628907-18628901

Variant related genes	Relation type
SPTY2D1-AS1	TF binding region
ENSG00000256282	TF binding region
ENSG00000256282	chromatin interactions
ENSG00000179119	chromatin interactions
ENSG00000247595	chromatin interactions
ENSG00000256588	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191932338	chr11:18621473-18621474	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs530229745	chr11:18621476-18621477	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs560771782	chr11:18621560-18621561	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548905934	chr11:18621588-18621589	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556259811	chr11:18621644-18621645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146936506	chr11:18621646-18621647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536894516	chr11:18621708-18621709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370201297	chr11:18621747-18621748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs137865683	chr11:18621749-18621750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12800056	chr11:18621772-18621773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567053282	chr11:18621788-18621789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534466971	chr11:18621803-18621804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184770650	chr11:18621819-18621820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532383544	chr11:18621854-18621855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553019854	chr11:18621993-18621994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368745457	chr11:18621994-18621995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558957336	chr11:18622001-18622002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577182862	chr11:18622036-18622037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35371389	chr11:18622084-18622085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373267698	chr11:18622122-18622123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544263025	chr11:18622130-18622131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199885988	chr11:18622200-18622201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143684856	chr11:18622224-18622225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188091901	chr11:18622257-18622258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112267191	chr11:18622284-18622285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192380103	chr11:18622292-18622293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559922892	chr11:18622294-18622295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144195475	chr11:18622309-18622310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552463070	chr11:18622310-18622311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184343848	chr11:18622319-18622320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531368221	chr11:18622358-18622359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556775681	chr11:18622359-18622360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148270744	chr11:18622363-18622364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs714314	chr11:18622374-18622375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141280539	chr11:18622411-18622412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146237084	chr11:18622438-18622439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567091022	chr11:18622467-18622468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550393974	chr11:18622480-18622481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554703940	chr11:18622481-18622482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577444857	chr11:18622526-18622527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139637995	chr11:18622608-18622609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368981216	chr11:18622614-18622615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556272563	chr11:18622621-18622622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142830530	chr11:18622651-18622652	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs1827917	chr11:18622662-18622663	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs541920702	chr11:18622702-18622703	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs189430068	chr11:18622703-18622704	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs146061854	chr11:18622777-18622778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181831695	chr11:18622830-18622831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564454534	chr11:18622831-18622832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18611400-18627600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:18611600-18627200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:18611600-18627200	Weak transcription	Brain Germinal Matrix	brain
8	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
10	chr11:18611800-18627200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
14	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
16	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
21	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
22	chr11:18613000-18628800	Weak transcription	K562	blood
23	chr11:18614200-18627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:18614600-18631000	Weak transcription	HepG2	liver
25	chr11:18617400-18627400	Weak transcription	Hela-S3	cervix
26	chr11:18617800-18627000	Weak transcription	HMEC	breast
27	chr11:18617800-18628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:18617800-18628800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:18617800-18629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:18617800-18630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:18617800-18630000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:18617800-18630200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
34	chr11:18618000-18622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:18618000-18627400	Weak transcription	Aorta	Aorta
36	chr11:18618000-18627400	Weak transcription	Liver	Liver
37	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:18618200-18622400	Weak transcription	Left Ventricle	heart
39	chr11:18618200-18622600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:18618200-18625200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:18618200-18627000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:18618200-18628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:18618200-18628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:18618200-18628600	Weak transcription	Fetal Intestine Large	intestine
45	chr11:18618200-18628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:18618200-18628800	Weak transcription	HSMM	muscle
47	chr11:18618200-18631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:18618400-18625800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:18618400-18627000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:18618400-18627400	Weak transcription	Spleen	Spleen

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