Variant report

Variant	nsv553475
Chromosome Location	chr11:10019879-10059623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10051045..10052894-chr11:10053055..10055381,2	MCF-7	breast:
2	chr11:9991428..9993143-chr11:10058135..10060614,2	K562	blood:
3	chr11:10051045..10052894-chr11:10053055..10055381,2	MCF-7	breast:

Extended variants
information (count: 1573 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1573 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16907355	chr11:10019879-10019880	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141669540	chr11:10019890-10019891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368139267	chr11:10019899-10019900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372381677	chr11:10019949-10019950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200271441	chr11:10019950-10019951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375272419	chr11:10019973-10019974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537355157	chr11:10020001-10020002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532325998	chr11:10020003-10020004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369564918	chr11:10020014-10020015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145988551	chr11:10020025-10020026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576716096	chr11:10020049-10020050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376608418	chr11:10020101-10020102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545032591	chr11:10020151-10020152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2896515	chr11:10020164-10020165	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117107002	chr11:10020180-10020181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528572008	chr11:10020331-10020332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541089834	chr11:10020348-10020349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561537268	chr11:10020404-10020405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548423071	chr11:10020440-10020441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530279021	chr11:10020478-10020479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57420335	chr11:10020485-10020486	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537284981	chr11:10020534-10020535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187898237	chr11:10020618-10020619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189680666	chr11:10020681-10020682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72857174	chr11:10020726-10020727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116630783	chr11:10020727-10020728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534718810	chr11:10020777-10020778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188183926	chr11:10020802-10020803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200433563	chr11:10020827-10020828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568142985	chr11:10020832-10020833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61877017	chr11:10020860-10020861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79798512	chr11:10020863-10020864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150913309	chr11:10020864-10020865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144348337	chr11:10020866-10020867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570765532	chr11:10020876-10020877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201960369	chr11:10020878-10020879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192777196	chr11:10020880-10020881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557102822	chr11:10020890-10020891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150726820	chr11:10020907-10020908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539317471	chr11:10020912-10020913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568372290	chr11:10021002-10021003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184956866	chr11:10021003-10021004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187285289	chr11:10021011-10021012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541415132	chr11:10021061-10021062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558397316	chr11:10021065-10021066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375053040	chr11:10021089-10021090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139017047	chr11:10021112-10021113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373107598	chr11:10021180-10021181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574862843	chr11:10021213-10021214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77020027	chr11:10021241-10021242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
3	chr11:9983600-10023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:9985800-10021600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:9985800-10023600	Weak transcription	Primary B cells from cord blood	blood
6	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
7	chr11:9990400-10028200	Weak transcription	Fetal Brain Female	brain
8	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:9994800-10041800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:9996000-10024600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:9999800-10024000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:9999800-10024200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:10001400-10066200	Weak transcription	Pancreas	Pancrea
14	chr11:10004000-10020000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:10004200-10048600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:10004400-10020200	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:10004400-10021600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:10004400-10024200	Weak transcription	NHLF	lung
19	chr11:10004600-10021800	Weak transcription	Esophagus	oesophagus
20	chr11:10004600-10024000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:10004600-10027600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:10004800-10021800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:10004800-10023000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:10004800-10023800	Weak transcription	HUVEC	blood vessel
25	chr11:10004800-10023800	Weak transcription	Osteobl	bone
26	chr11:10004800-10024800	Weak transcription	HSMM	muscle
27	chr11:10005000-10024000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:10005200-10021400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:10005200-10021400	Weak transcription	Placenta	Placenta
30	chr11:10005200-10024000	Weak transcription	Hela-S3	cervix
31	chr11:10005200-10026400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:10005200-10027600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:10005400-10022800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:10005400-10024400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:10005400-10026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:10005400-10026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:10005400-10027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:10005400-10027400	Weak transcription	Fetal Stomach	stomach
39	chr11:10005400-10027600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:10005400-10029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:10005600-10024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:10005600-10026400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:10005800-10024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:10006800-10026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:10007200-10027200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:10007600-10041800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:10009400-10020400	Weak transcription	Brain Germinal Matrix	brain
48	chr11:10009400-10024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:10009600-10022600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:10010600-10026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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