Variant report

Variant	esv3460929
Chromosome Location	chr11:47644263-47647298
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47642292..47646054-chr11:47647189..47650672,3	K562	blood:
2	chr11:47636685..47639301-chr11:47641827..47644526,2	K562	blood:
3	chr11:47637426..47639040-chr11:47647295..47649989,2	MCF-7	breast:
4	chr11:47643472..47645820-chr11:47651025..47653497,2	K562	blood:
5	chr11:47642292..47646054-chr11:47647189..47650672,3	K562	blood:
6	chr11:47645801..47647431-chr11:47648985..47650624,2	MCF-7	breast:
7	chr11:47642868..47645795-chr11:47645972..47648813,2	MCF-7	breast:
8	chr11:47642868..47645795-chr11:47645972..47648813,2	MCF-7	breast:

No data

Extended variants
information (count: 104 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146359770	chr11:47644269-47644270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187580609	chr11:47644272-47644273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138490610	chr11:47644281-47644282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72909882	chr11:47644289-47644290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs200729351	chr11:47644297-47644298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376052929	chr11:47644324-47644325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76146660	chr11:47644332-47644333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199688889	chr11:47644346-47644347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112393607	chr11:47644386-47644387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370450200	chr11:47644405-47644406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191027619	chr11:47644480-47644481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183294785	chr11:47644489-47644490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560396546	chr11:47644551-47644552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532333939	chr11:47644613-47644614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545823314	chr11:47644644-47644645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373578204	chr11:47644662-47644663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367990560	chr11:47644689-47644690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113380805	chr11:47644752-47644753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531472758	chr11:47644808-47644809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188174776	chr11:47644810-47644811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561299362	chr11:47644871-47644872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547548792	chr11:47644888-47644889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527397361	chr11:47644892-47644893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67227160	chr11:47644922-47644923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398016007	chr11:47644928-47644929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75336410	chr11:47644947-47644948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547083651	chr11:47645051-47645052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570759098	chr11:47645097-47645098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140638092	chr11:47645148-47645149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540003346	chr11:47645182-47645183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145575706	chr11:47645272-47645273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112255182	chr11:47645306-47645307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113359244	chr11:47645367-47645368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192107633	chr11:47645373-47645374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370630547	chr11:47645402-47645403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555797931	chr11:47645420-47645421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375821416	chr11:47645421-47645422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572430205	chr11:47645431-47645432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556155757	chr11:47645466-47645467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147716086	chr11:47645487-47645488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368242995	chr11:47645491-47645492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569670605	chr11:47645511-47645512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558278803	chr11:47645552-47645553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183145070	chr11:47645645-47645646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142659328	chr11:47645647-47645648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371916252	chr11:47645670-47645671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562516369	chr11:47645721-47645722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576289846	chr11:47645755-47645756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12294436	chr11:47645765-47645766	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561390107	chr11:47645780-47645781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47621600-47647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47630400-47648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:47630400-47649600	Weak transcription	Fetal Heart	heart
4	chr11:47633600-47647200	Weak transcription	Right Ventricle	heart
5	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:47637000-47653400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:47637600-47648800	Strong transcription	Fetal Intestine Large	intestine
9	chr11:47637600-47650800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:47637600-47653200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:47637600-47653200	Strong transcription	Liver	Liver
12	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:47637800-47653200	Strong transcription	Left Ventricle	heart
17	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
21	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:47638200-47652800	Strong transcription	Hela-S3	cervix
23	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:47638400-47644400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:47638400-47644800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:47638400-47653400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:47638400-47653800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:47638400-47654000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:47638400-47660400	Strong transcription	Dnd41	blood
33	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:47638600-47653600	Strong transcription	Primary B cells from cord blood	blood
35	chr11:47638600-47654000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:47639000-47651400	Strong transcription	K562	blood
39	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
43	chr11:47639200-47647400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:47639200-47653800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:47639200-47657600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr11:47639400-47655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:47639800-47657600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:47640000-47653800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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