Variant report

Variant	nsv1035768
Chromosome Location	chr11:16530440-16578566
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16573525..16577119-chr11:16577691..16582391,5	K562	blood:
2	chr11:16527461..16531095-chr11:16531624..16535473,5	K562	blood:
3	chr11:16565643..16568229-chr11:16568917..16572483,3	K562	blood:
4	chr11:16569309..16571470-chr11:16575430..16577842,2	K562	blood:
5	chr11:16428430..16430203-chr11:16538247..16541152,2	K562	blood:
6	chr11:16569176..16571470-chr11:16576342..16578744,2	K562	blood:
7	chr11:16569176..16571470-chr11:16576342..16578744,2	K562	blood:
8	chr11:16565643..16568229-chr11:16568917..16572483,3	K562	blood:
9	chr11:16550644..16552668-chr11:16554720..16556292,2	K562	blood:
10	chr11:16498104..16500817-chr11:16530790..16532770,2	K562	blood:
11	chr11:16550644..16552668-chr11:16554720..16556292,2	K562	blood:
12	chr11:16569309..16571470-chr11:16575430..16577842,2	K562	blood:
13	chr11:16573525..16577119-chr11:16577691..16582391,5	K562	blood:
14	chr11:16527461..16531095-chr11:16531624..16535473,5	K562	blood:

No data

Extended variants
information (count: 1734 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531932408	chr11:16530440-16530441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550206716	chr11:16530488-16530489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55730604	chr11:16530509-16530510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529775663	chr11:16530520-16530521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528397637	chr11:16530566-16530567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547779454	chr11:16530586-16530587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111683889	chr11:16530610-16530611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10832627	chr11:16530650-16530651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539920780	chr11:16530721-16530722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72873385	chr11:16530777-16530778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570060731	chr11:16530817-16530818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537604225	chr11:16530826-16530827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534008971	chr11:16530828-16530829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141445739	chr11:16530853-16530854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574237307	chr11:16530868-16530869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575275634	chr11:16530979-16530980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541357391	chr11:16531021-16531022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552527967	chr11:16531047-16531048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552148520	chr11:16531058-16531059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190469365	chr11:16531106-16531107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577266632	chr11:16531142-16531143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544696479	chr11:16531183-16531184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541307526	chr11:16531228-16531229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563006905	chr11:16531233-16531234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374344872	chr11:16531266-16531267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7944481	chr11:16531267-16531268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542779196	chr11:16531278-16531279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7934582	chr11:16531282-16531283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117850132	chr11:16531336-16531337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546946028	chr11:16531399-16531400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181557013	chr11:16531409-16531410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142770086	chr11:16531448-16531449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373917205	chr11:16531514-16531515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551802185	chr11:16531522-16531523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538240592	chr11:16531524-16531525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145184432	chr11:16531593-16531594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147620214	chr11:16531628-16531629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142394760	chr11:16531664-16531665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150214838	chr11:16531692-16531693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71455886	chr11:16531704-16531705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12295506	chr11:16531705-16531706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114928903	chr11:16531708-16531709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556708190	chr11:16531736-16531737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368057103	chr11:16531760-16531761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542392795	chr11:16531803-16531804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77759114	chr11:16531811-16531812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572505647	chr11:16531815-16531816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540436455	chr11:16531876-16531877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12276256	chr11:16531882-16531883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532470093	chr11:16531926-16531927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16510400-16533000	Weak transcription	Fetal Heart	heart
2	chr11:16528000-16531400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:16528000-16533400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:16530800-16531800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:16530800-16531800	Enhancers	NHEK	skin
6	chr11:16531200-16531600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:16531600-16532000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:16531600-16533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:16531800-16532800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:16531800-16532800	Weak transcription	NHEK	skin
11	chr11:16532000-16532400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:16532200-16534600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr11:16532400-16534800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:16532600-16533600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:16532600-16534600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:16532800-16533200	Enhancers	Aorta	Aorta
17	chr11:16532800-16533400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:16532800-16533400	Enhancers	HSMM	muscle
19	chr11:16532800-16533400	Enhancers	NHEK	skin
20	chr11:16532800-16533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:16532800-16533600	Enhancers	NHLF	lung
22	chr11:16532800-16533800	Enhancers	Osteobl	bone
23	chr11:16532800-16534000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:16532800-16535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:16533000-16533400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:16533000-16533400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:16533000-16533800	Enhancers	Fetal Heart	heart
28	chr11:16533200-16533600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:16533200-16533600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:16533200-16533800	Enhancers	NH-A	brain
31	chr11:16533200-16534000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:16533200-16535000	Enhancers	Fetal Lung	lung
33	chr11:16533400-16534400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:16533600-16533800	Enhancers	Psoas Muscle	Psoas
35	chr11:16533600-16534200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:16533600-16534400	Weak transcription	NHLF	lung
37	chr11:16533800-16535600	Weak transcription	Psoas Muscle	Psoas
38	chr11:16533800-16541200	Weak transcription	Fetal Heart	heart
39	chr11:16534200-16534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:16534400-16534600	Enhancers	NHLF	lung
41	chr11:16534400-16535800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:16535000-16535400	Weak transcription	Fetal Lung	lung
43	chr11:16535400-16535800	Enhancers	Fetal Lung	lung
44	chr11:16535600-16535800	Enhancers	Psoas Muscle	Psoas
45	chr11:16535800-16536000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:16535800-16536000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:16542000-16542600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr11:16542000-16542800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:16542000-16542800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:16542200-16542600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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