Variant report

Variant	esv3364119
Chromosome Location	chr11:47647368-47648681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47645801..47647431-chr11:47648985..47650624,2	MCF-7	breast:
2	chr11:47598928..47600982-chr11:47647637..47650015,2	MCF-7	breast:
3	chr11:47642868..47645795-chr11:47645972..47648813,2	MCF-7	breast:
4	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
5	chr11:47637426..47639040-chr11:47647295..47649989,2	MCF-7	breast:
6	chr11:47642292..47646054-chr11:47647189..47650672,3	K562	blood:
7	chr11:47648507..47652310-chr11:47658295..47660637,4	K562	blood:

Variant related genes	Relation type
ENSG00000123444	chromatin interactions
ENSG00000213619	chromatin interactions
ENSG00000109919	chromatin interactions
ENSG00000231880	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11039313	chr11:47647377-47647378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570037624	chr11:47647437-47647438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563601306	chr11:47647439-47647440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529291361	chr11:47647443-47647444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77225981	chr11:47647461-47647462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181464629	chr11:47647476-47647477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143631234	chr11:47647522-47647523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79964006	chr11:47647544-47647545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543267369	chr11:47647548-47647549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559940578	chr11:47647558-47647559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528804343	chr11:47647570-47647571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552093269	chr11:47647628-47647629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571664821	chr11:47647639-47647640	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs530792560	chr11:47647648-47647649	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551089687	chr11:47647665-47647666	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567671099	chr11:47647683-47647684	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs536317770	chr11:47647740-47647741	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375223986	chr11:47647789-47647790	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs184414943	chr11:47647797-47647798	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs117596673	chr11:47647818-47647819	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs148119486	chr11:47647825-47647826	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577594451	chr11:47647882-47647883	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572241881	chr11:47647884-47647885	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs543034912	chr11:47647908-47647909	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556880929	chr11:47648026-47648027	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573784148	chr11:47648033-47648034	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4752856	chr11:47648042-47648043	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs560030267	chr11:47648043-47648044	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs573472727	chr11:47648054-47648055	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141874314	chr11:47648102-47648103	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375566529	chr11:47648125-47648126	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs189197908	chr11:47648171-47648172	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs181907247	chr11:47648173-47648174	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs185775224	chr11:47648191-47648192	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs146010181	chr11:47648207-47648208	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs532936575	chr11:47648384-47648385	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536381752	chr11:47648407-47648408	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs36021690	chr11:47648415-47648416	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs191027193	chr11:47648561-47648562	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs78695990	chr11:47648562-47648563	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs138651008	chr11:47648580-47648581	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs369926600	chr11:47648615-47648616	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs374764411	chr11:47648620-47648621	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	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:148 , 50 per page) page: 1 2 3

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	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:47637000-47653400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:47637600-47648800	Strong transcription	Fetal Intestine Large	intestine
8	chr11:47637600-47650800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:47637600-47653200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:47637600-47653200	Strong transcription	Liver	Liver
11	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:47637800-47653200	Strong transcription	Left Ventricle	heart
16	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
20	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:47638200-47652800	Strong transcription	Hela-S3	cervix
22	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:47638400-47653400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:47638400-47653800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:47638400-47654000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:47638400-47660400	Strong transcription	Dnd41	blood
30	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:47638600-47653600	Strong transcription	Primary B cells from cord blood	blood
32	chr11:47638600-47654000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:47639000-47651400	Strong transcription	K562	blood
36	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
40	chr11:47639200-47647400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:47639200-47653800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:47639200-47657600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:47639400-47655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:47639800-47657600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:47640000-47653800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47640200-47647400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:47640200-47652400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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