Variant report

Variant	nsv898428
Chromosome Location	chr11:121568262-121671976
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:
2	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
3	chr10:75012214..75013088-chr11:121592371..121593332,2	MCF-7	breast:
4	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:
5	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
6	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
7	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182180	chromatin interactions
ENSG00000227540	chromatin interactions

Extended variants
information (count: 3040 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3040 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10892771	chr11:121568262-121568263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144891783	chr11:121568266-121568267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568600924	chr11:121568325-121568326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543587540	chr11:121568328-121568329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372481508	chr11:121568338-121568339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148649059	chr11:121568359-121568360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539830466	chr11:121568371-121568372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143281025	chr11:121568416-121568417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570759159	chr11:121568461-121568462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76348553	chr11:121568575-121568576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556098837	chr11:121568583-121568584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574544866	chr11:121568614-121568615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541585496	chr11:121568617-121568618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553812944	chr11:121568655-121568656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571749498	chr11:121568658-121568659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146681946	chr11:121568674-121568675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563691135	chr11:121568800-121568801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185636902	chr11:121568808-121568809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17125654	chr11:121568831-121568832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140354263	chr11:121568860-121568861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529468880	chr11:121568902-121568903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117624936	chr11:121568911-121568912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35855325	chr11:121568924-121568925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559879221	chr11:121568934-121568935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533415402	chr11:121568943-121568944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551804306	chr11:121568944-121568945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145419349	chr11:121568962-121568963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562636933	chr11:121569094-121569095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113066707	chr11:121569245-121569246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140870003	chr11:121569260-121569261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4604901	chr11:121569325-121569326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11296739	chr11:121569344-121569345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17125658	chr11:121569384-121569385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372123814	chr11:121569395-121569396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140361299	chr11:121569445-121569446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189347446	chr11:121569602-121569603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553497434	chr11:121569633-121569634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571810800	chr11:121569664-121569665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113904280	chr11:121569679-121569680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71281643	chr11:121569680-121569681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564194955	chr11:121569682-121569683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386758209	chr11:121569683-121569684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201548679	chr11:121569684-121569685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180892320	chr11:121569743-121569744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184901322	chr11:121569826-121569827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562391224	chr11:121569836-121569837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73601383	chr11:121569849-121569850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150414486	chr11:121569851-121569852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372272894	chr11:121569930-121569931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190134663	chr11:121570033-121570034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121561000-121570200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:121565400-121571000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:121566400-121568800	Enhancers	Fetal Brain Male	brain
4	chr11:121566800-121568400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:121566800-121568600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:121566800-121570200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:121567000-121570000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:121567200-121569400	Enhancers	Fetal Heart	heart
9	chr11:121567400-121570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:121567600-121568800	Enhancers	Brain Angular Gyrus	brain
11	chr11:121567600-121568800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:121567600-121570200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:121567600-121570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:121567600-121570600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:121567600-121571600	Weak transcription	Right Atrium	heart
16	chr11:121567600-121572400	Enhancers	Brain Substantia Nigra	brain
17	chr11:121567800-121568800	Enhancers	Brain Germinal Matrix	brain
18	chr11:121567800-121569000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:121567800-121570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:121567800-121570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:121568000-121568400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:121568000-121572800	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:121568200-121568400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr11:121568200-121568400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:121568200-121570400	Weak transcription	Fetal Brain Female	brain
26	chr11:121568200-121570600	Weak transcription	Fetal Kidney	kidney
27	chr11:121568200-121570800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:121568200-121570800	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:121568200-121573600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:121568200-121573600	Weak transcription	Fetal Stomach	stomach
31	chr11:121568200-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:121568400-121568800	Enhancers	Brain Anterior Caudate	brain
33	chr11:121568400-121568800	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:121568400-121570600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:121568800-121570000	Weak transcription	Brain Angular Gyrus	brain
36	chr11:121568800-121570000	Weak transcription	Brain Anterior Caudate	brain
37	chr11:121568800-121570000	Weak transcription	Brain Germinal Matrix	brain
38	chr11:121568800-121570000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:121568800-121570400	Weak transcription	Fetal Brain Male	brain
40	chr11:121569000-121570000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:121569400-121569800	Weak transcription	Fetal Heart	heart
42	chr11:121569800-121570000	Enhancers	Fetal Heart	heart
43	chr11:121570000-121570200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:121570000-121570400	Flanking Active TSS	Fetal Heart	heart
45	chr11:121570000-121570600	Enhancers	Brain Anterior Caudate	brain
46	chr11:121570000-121571200	Enhancers	Brain Germinal Matrix	brain
47	chr11:121570000-121571400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:121570000-121571600	Enhancers	Brain Angular Gyrus	brain
49	chr11:121570000-121572800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:121570200-121570600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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