Variant report

Variant	nsv898350
Chromosome Location	chr11:104261833-104372318
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
2	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
3	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
4	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
5	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
6	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
7	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
8	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
9	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
10	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
11	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
12	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
13	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-1	chr11:104316596-104316740	ENSG00000256422

No data

Extended variants
information (count: 2898 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2898 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11226342	chr11:104261833-104261834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542286344	chr11:104261834-104261835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149000632	chr11:104261879-104261880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115551672	chr11:104261901-104261902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35113823	chr11:104261935-104261936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116617145	chr11:104261964-104261965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564680877	chr11:104261966-104261967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533608374	chr11:104261986-104261987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17102415	chr11:104262038-104262039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148147032	chr11:104262045-104262046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532558564	chr11:104262104-104262105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367702178	chr11:104262122-104262123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7105700	chr11:104262125-104262126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111484393	chr11:104262127-104262128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549122363	chr11:104262132-104262133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565933710	chr11:104262140-104262141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533385739	chr11:104262146-104262147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142531450	chr11:104262195-104262196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17102418	chr11:104262203-104262204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368401337	chr11:104262263-104262264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181684483	chr11:104262264-104262265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137968489	chr11:104262366-104262367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556616051	chr11:104262399-104262400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573689301	chr11:104262428-104262429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17102421	chr11:104262507-104262508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143420156	chr11:104262528-104262529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150501774	chr11:104262539-104262540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138654463	chr11:104262555-104262556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7128251	chr11:104262585-104262586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs185816598	chr11:104262597-104262598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544066817	chr11:104262636-104262637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563771462	chr11:104262657-104262658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190222874	chr11:104262666-104262667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570220758	chr11:104262690-104262691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549309351	chr11:104262693-104262694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370179837	chr11:104262718-104262719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559495011	chr11:104262724-104262725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12362748	chr11:104262810-104262811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551258445	chr11:104262852-104262853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112999276	chr11:104262904-104262905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374521289	chr11:104262914-104262915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568189792	chr11:104262915-104262916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536833137	chr11:104262943-104262944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550382799	chr11:104262960-104262961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567307749	chr11:104262962-104262963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181099136	chr11:104262982-104262983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149333053	chr11:104263035-104263036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17102426	chr11:104263059-104263060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538667752	chr11:104263080-104263081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558476082	chr11:104263103-104263104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104257600-104262800	Weak transcription	Psoas Muscle	Psoas
2	chr11:104260600-104263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:104261000-104262400	Enhancers	NH-A	brain
4	chr11:104261600-104264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:104262800-104263400	Enhancers	Psoas Muscle	Psoas
6	chr11:104263200-104263400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:104263400-104264000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:104264800-104265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:104265000-104265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:104265200-104265400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:104265200-104265400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:104265200-104266000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:104273200-104273400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:104273200-104273600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:104273200-104274000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:104273200-104276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:104273400-104273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:104273400-104273600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:104273400-104273600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:104273400-104273800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:104273400-104274000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:104273400-104274200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:104273400-104274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:104273400-104274400	Enhancers	Stomach Mucosa	stomach
44	chr11:104273400-104275000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:104273600-104273800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:104273600-104273800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:104273600-104274000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:104273600-104274000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:104273600-104274000	Enhancers	NH-A	brain
50	chr11:104273600-104274200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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