Variant report

Variant	esv10066
Chromosome Location	chr11:34203744-34204819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34202988..34205235-chr11:34209660..34212363,2	K562	blood:
2	chr11:34200978..34204921-chr11:34206145..34211160,6	K562	blood:
3	chr11:34201889..34204263-chr11:34210189..34212019,2	MCF-7	breast:
4	chr11:34194502..34196652-chr11:34202672..34204738,2	MCF-7	breast:
5	chr11:34198458..34205212-chr11:34376041..34381079,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	chromatin interactions
ENSG00000201867	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571884910	chr11:34203784-34203785	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544626268	chr11:34203813-34203814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs61880413	chr11:34203841-34203842	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2143868	chr11:34203862-34203863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs578157947	chr11:34203883-34203884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182626988	chr11:34203937-34203938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559491592	chr11:34203971-34203972	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145181364	chr11:34203978-34203979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542061904	chr11:34204048-34204049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6484699	chr11:34204049-34204050	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536696510	chr11:34204051-34204052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117989378	chr11:34204053-34204054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550186251	chr11:34204054-34204055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373061696	chr11:34204057-34204058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563768988	chr11:34204058-34204059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573064100	chr11:34204064-34204065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546416075	chr11:34204069-34204070	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370710638	chr11:34204086-34204087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs187776147	chr11:34204100-34204101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193243103	chr11:34204101-34204102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs2473913	chr11:34204128-34204129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569466284	chr11:34204172-34204173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs115823851	chr11:34204215-34204216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2467375	chr11:34204217-34204218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs578101657	chr11:34204229-34204230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376236817	chr11:34204262-34204263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534285788	chr11:34204291-34204292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139024941	chr11:34204293-34204294	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572955607	chr11:34204294-34204295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs541677219	chr11:34204304-34204305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577035283	chr11:34204324-34204325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs4756113	chr11:34204396-34204397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10444232	chr11:34204464-34204465	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544133452	chr11:34204469-34204470	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149237994	chr11:34204471-34204472	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532808457	chr11:34204512-34204513	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367948406	chr11:34204533-34204534	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546624786	chr11:34204546-34204547	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377182241	chr11:34204549-34204550	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77240847	chr11:34204579-34204580	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs185041904	chr11:34204592-34204593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529454390	chr11:34204608-34204609	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564697699	chr11:34204621-34204622	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532148539	chr11:34204635-34204636	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549332886	chr11:34204684-34204685	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569499608	chr11:34204685-34204686	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111479471	chr11:34204761-34204762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144444875	chr11:34204770-34204771	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552150324	chr11:34204805-34204806	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543904566	chr11:34204812-34204813	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34196200-34207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:34196400-34206800	Weak transcription	Gastric	stomach
3	chr11:34196400-34207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:34196600-34204400	Weak transcription	HSMM	muscle
5	chr11:34196600-34204800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:34196600-34205800	Weak transcription	Fetal Brain Female	brain
7	chr11:34196600-34206000	Weak transcription	Pancreas	Pancrea
8	chr11:34196600-34206200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:34196600-34207600	Weak transcription	Left Ventricle	heart
10	chr11:34196600-34210200	Weak transcription	HepG2	liver
11	chr11:34196600-34214000	Weak transcription	Stomach Mucosa	stomach
12	chr11:34196800-34205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:34196800-34206800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:34197000-34207400	Weak transcription	HSMMtube	muscle
15	chr11:34197400-34204400	Enhancers	GM12878-XiMat	blood
16	chr11:34197400-34205000	Weak transcription	Liver	Liver
17	chr11:34197800-34205200	Enhancers	Brain Hippocampus Middle	brain
18	chr11:34198000-34203800	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:34198000-34204000	Enhancers	Brain Anterior Caudate	brain
20	chr11:34198000-34204000	Enhancers	Brain Substantia Nigra	brain
21	chr11:34198600-34207000	Weak transcription	NHEK	skin
22	chr11:34198800-34207000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:34199200-34209800	Weak transcription	A549	lung
24	chr11:34199600-34206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:34199800-34206000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:34201000-34204000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:34201800-34203800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:34201800-34203800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr11:34202000-34205200	Weak transcription	Fetal Kidney	kidney
30	chr11:34202200-34207200	Weak transcription	HMEC	breast
31	chr11:34202400-34207400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:34202400-34207400	Weak transcription	Fetal Lung	lung
33	chr11:34202400-34214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:34202800-34206200	Weak transcription	Fetal Thymus	thymus
35	chr11:34203000-34203800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:34203000-34203800	Enhancers	Brain Angular Gyrus	brain
37	chr11:34203000-34203800	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:34203000-34203800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:34203000-34204000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:34203000-34206000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:34203000-34224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:34203200-34203800	Enhancers	Right Atrium	heart
43	chr11:34203200-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:34203200-34204000	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:34203200-34206000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:34203200-34206200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:34203200-34207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:34203400-34203800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr11:34203400-34203800	Enhancers	Fetal Brain Male	brain
50	chr11:34203400-34204000	Enhancers	Adipose Nuclei	Adipose

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