Variant report

Variant	esv3384999
Chromosome Location	chr11:47968370-47968887
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47967425..47969925-chr11:48129768..48132712,2	MCF-7	breast:
2	chr11:47964794..47968609-chr11:48000698..48003518,3	MCF-7	breast:
3	chr11:47964249..47967260-chr11:47967441..47970649,3	K562	blood:
4	chr11:47967015..47968589-chr11:48075080..48077424,2	MCF-7	breast:
5	chr11:47964759..47967260-chr11:47968299..47969907,3	K562	blood:
6	chr11:47967526..47970354-chr11:47971440..47973088,2	K562	blood:
7	chr11:47968790..47969517-chr11:48130956..48131704,2	MCF-7	breast:
8	chr11:47967043..47970395-chr11:47999984..48003579,8	MCF-7	breast:
9	chr11:47967141..47970110-chr11:47980010..47981597,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149177	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576584224	chr11:47968425-47968426	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77668124	chr11:47968458-47968459	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11039469	chr11:47968480-47968481	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11039470	chr11:47968506-47968507	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117506841	chr11:47968558-47968559	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554659434	chr11:47968616-47968617	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574787897	chr11:47968625-47968626	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188991248	chr11:47968626-47968627	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574536422	chr11:47968648-47968649	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552863415	chr11:47968665-47968666	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572834462	chr11:47968686-47968687	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111736633	chr11:47968690-47968691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544780975	chr11:47968725-47968726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57639610	chr11:47968743-47968744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575240129	chr11:47968764-47968765	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113269712	chr11:47968772-47968773	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544304505	chr11:47968824-47968825	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72897994	chr11:47968842-47968843	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371599025	chr11:47968844-47968845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377608049	chr11:47968880-47968881	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546945115	chr11:47968885-47968886	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
2	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:47960000-47972400	Weak transcription	Lung	lung
5	chr11:47964000-47968400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:47964000-47968400	Weak transcription	GM12878-XiMat	blood
7	chr11:47964000-47972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47964200-47968400	Weak transcription	Placenta	Placenta
9	chr11:47964400-47968800	Weak transcription	Right Atrium	heart
10	chr11:47964600-47968600	Weak transcription	Liver	Liver
11	chr11:47966200-47968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47966200-47968600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:47966200-47968600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:47966200-47968600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:47966200-47969800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:47966200-47972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:47966400-47968600	Weak transcription	NHLF	lung
18	chr11:47966400-47969000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:47966400-47969200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:47966600-47968400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:47966600-47968400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:47966600-47968600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:47966600-47972000	Weak transcription	Dnd41	blood
24	chr11:47966800-47968600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:47966800-47968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:47966800-47970000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:47967200-47968600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:47967200-47971000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:47967400-47969400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:47967400-47973200	Enhancers	Primary B cells from cord blood	blood
31	chr11:47967400-47974000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:47967600-47969200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:47967600-47969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:47967600-47971400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:47967800-47968400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:47967800-47969200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:47967800-47969400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:47967800-47969400	Flanking Active TSS	A549	lung
39	chr11:47967800-47969400	Enhancers	HMEC	breast
40	chr11:47967800-47969400	Enhancers	NHEK	skin
41	chr11:47967800-47970000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:47967800-47970400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:47968000-47968600	Enhancers	Hela-S3	cervix
44	chr11:47968000-47969200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:47968000-47970000	Enhancers	NH-A	brain
46	chr11:47968000-47970600	Enhancers	Stomach Mucosa	stomach
47	chr11:47968200-47968400	Enhancers	Primary T cells from cord blood	blood
48	chr11:47968200-47968800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:47968200-47969000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:47968200-47969000	Enhancers	Colon Smooth Muscle	Colon

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