Variant report

Variant	nsv898352
Chromosome Location	chr11:104274535-104452042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:104380583..104383114-chr11:104384527..104386564,2	K562	blood:
2	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
3	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
4	chr11:104377912..104380713-chr11:104411485..104413500,2	MCF-7	breast:
5	chr11:104242893..104244741-chr11:104376136..104378191,2	K562	blood:
6	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
7	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
8	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
9	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
10	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
11	chr11:104377912..104380713-chr11:104411485..104413500,2	MCF-7	breast:
12	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
13	chr11:104380583..104383114-chr11:104384527..104386564,2	K562	blood:
14	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
15	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
16	chr11:104372355..104372989-chr5:37799043..37799937,2	MCF-7	breast:
17	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-1	chr11:104439221-104439649	NONHSAT023934
2	lnc-CASP12-1	chr11:104439776-104439859	ENSG00000256422
3	lnc-CASP12-1	chr11:104439776-104439859	NONHSAT023935
4	lnc-CASP12-1	chr11:104443285-104443325	ENSG00000256422
5	lnc-CASP12-1	chr11:104442804-104443213	NONHSAT023935
6	lnc-CASP12-1	chr11:104415427-104415514	ENSG00000256422
7	lnc-CASP12-1	chr11:104439258-104439649	ENSG00000256422
8	lnc-CASP12-1	chr11:104439240-104439649	NONHSAT023935
9	lnc-CASP12-1	chr11:104443285-104443325	XLOC_009538
10	lnc-CASP12-1	chr11:104439083-104439649	XLOC_009538
11	lnc-CASP12-1	chr11:104439776-104439859	XLOC_009538
12	lnc-CASP12-1	chr11:104415604-104415877	ENSG00000256422
13	lnc-CASP12-1	chr11:104415427-104415514	ENSG00000256422
14	lnc-CASP12-1	chr11:104410659-104410753	ENSG00000256422
15	lnc-CASP12-1	chr11:104439776-104439859	NONHSAT023934
16	lnc-CASP12-1	chr11:104415604-104415877	ENSG00000256422
17	lnc-CASP12-1	chr11:104316596-104316740	ENSG00000256422
18	lnc-CASP12-1	chr11:104382877-104382961	ENSG00000256422

No data

Extended variants
information (count: 4877 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4877 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4755031	chr11:104274535-104274536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531321595	chr11:104274557-104274558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193231365	chr11:104274627-104274628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536306851	chr11:104274684-104274685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150853163	chr11:104274694-104274695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112418282	chr11:104274699-104274700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556693477	chr11:104274715-104274716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10708596	chr11:104274753-104274754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545603283	chr11:104274762-104274763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546929433	chr11:104274795-104274796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566719066	chr11:104274796-104274797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113069568	chr11:104274805-104274806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532621063	chr11:104274834-104274835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4754112	chr11:104274842-104274843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569266994	chr11:104274896-104274897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185254741	chr11:104274957-104274958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188519706	chr11:104275030-104275031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192728041	chr11:104275035-104275036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183986394	chr11:104275146-104275147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572752147	chr11:104275155-104275156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9667421	chr11:104275167-104275168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs576947576	chr11:104275214-104275215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188669931	chr11:104275221-104275222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181030749	chr11:104275260-104275261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576079823	chr11:104275313-104275314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372920035	chr11:104275325-104275326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183727449	chr11:104275351-104275352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527332956	chr11:104275355-104275356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540503344	chr11:104275375-104275376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371380634	chr11:104275408-104275409	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190508580	chr11:104275409-104275410	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547926995	chr11:104275504-104275505	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374772442	chr11:104275506-104275507	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139280742	chr11:104275510-104275511	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573695184	chr11:104275519-104275520	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531723844	chr11:104275520-104275521	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367613575	chr11:104275557-104275558	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570389874	chr11:104275581-104275582	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200039629	chr11:104275582-104275583	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111455521	chr11:104275640-104275641	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568464483	chr11:104275652-104275653	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116493768	chr11:104275689-104275690	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149568012	chr11:104275750-104275751	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570672768	chr11:104275783-104275784	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11605911	chr11:104275821-104275822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs375993737	chr11:104275828-104275829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556092723	chr11:104275849-104275850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562577022	chr11:104275920-104275921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529684392	chr11:104275938-104275939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569300354	chr11:104275976-104275977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104273200-104276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr11:104273400-104275000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:104273600-104275200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:104273800-104275000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:104273800-104275200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:104273800-104275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:104273800-104276000	Enhancers	Fetal Heart	heart
8	chr11:104273800-104276800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:104274000-104275000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:104274000-104276000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:104274000-104276200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:104274000-104276400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:104274000-104276800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:104274200-104274600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:104274200-104275200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:104274200-104275200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:104274200-104275400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:104274200-104276000	Enhancers	Hela-S3	cervix
19	chr11:104274200-104276600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:104274400-104274600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:104274600-104275400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:104274600-104276000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:104275000-104275200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr11:104275000-104275800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:104275000-104275800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:104275200-104275600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:104275200-104275600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:104275200-104275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:104275200-104276000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:104275200-104276000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:104275200-104276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:104275400-104275800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:104275800-104276000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:104275800-104276000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:104275800-104276800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:104276000-104276200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:104276000-104279000	Weak transcription	Fetal Heart	heart
38	chr11:104276800-104277000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:104279000-104279800	Enhancers	Fetal Heart	heart
40	chr11:104279600-104279800	Enhancers	Adipose Nuclei	Adipose
41	chr11:104279800-104280800	Weak transcription	Fetal Heart	heart
42	chr11:104279800-104281000	Weak transcription	Adipose Nuclei	Adipose
43	chr11:104280800-104281800	Enhancers	Fetal Heart	heart
44	chr11:104281000-104281400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:104281000-104281800	Enhancers	Adipose Nuclei	Adipose
46	chr11:104281200-104281800	Enhancers	Dnd41	blood
47	chr11:104291000-104295800	Weak transcription	Right Atrium	heart
48	chr11:104293200-104293800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:104294000-104294400	Enhancers	Stomach Mucosa	stomach
50	chr11:104294400-104295600	Weak transcription	Stomach Mucosa	stomach

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