Variant report

Variant	esv3352823
Chromosome Location	chr11:34905926-34907874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34905574..34907241-chr11:34910483..34912715,2	K562	blood:
2	chr11:34601739..34604276-chr11:34906497..34909283,2	K562	blood:
3	chr11:34905872..34908385-chr11:34915875..34918496,2	K562	blood:

Variant related genes	Relation type
ENSG00000149089	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568801131	chr11:34905938-34905939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75130313	chr11:34905939-34905940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537896651	chr11:34905950-34905951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557823397	chr11:34905984-34905985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55672020	chr11:34905987-34905988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs2985399	chr11:34905994-34905995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2985398	chr11:34906045-34906046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs112939996	chr11:34906090-34906091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187574426	chr11:34906098-34906099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542919601	chr11:34906144-34906145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562702906	chr11:34906164-34906165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531780093	chr11:34906185-34906186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12223047	chr11:34906225-34906226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1998604	chr11:34906233-34906234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs527816322	chr11:34906242-34906243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547734554	chr11:34906243-34906244	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576464746	chr11:34906249-34906250	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376544784	chr11:34906269-34906270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371440373	chr11:34906270-34906271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71842016	chr11:34906271-34906272	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146887148	chr11:34906279-34906280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3044736	chr11:34906280-34906281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77929671	chr11:34906281-34906282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140364633	chr11:34906283-34906284	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190511667	chr11:34906301-34906302	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183163263	chr11:34906401-34906402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79687946	chr11:34906409-34906410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144208942	chr11:34906435-34906436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561516529	chr11:34906447-34906448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538039956	chr11:34906448-34906449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557694439	chr11:34906455-34906456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571289149	chr11:34906517-34906518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59728988	chr11:34906528-34906529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553684478	chr11:34906541-34906542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1998603	chr11:34906562-34906563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs542256718	chr11:34906585-34906586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187089354	chr11:34906612-34906613	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3044738	chr11:34906627-34906628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576357919	chr11:34906629-34906630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545569139	chr11:34906659-34906660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190423965	chr11:34906725-34906726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1998602	chr11:34906738-34906739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541169078	chr11:34906741-34906742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182787275	chr11:34906799-34906800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2985397	chr11:34906839-34906840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs550242743	chr11:34906882-34906883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562748717	chr11:34906929-34906930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2985396	chr11:34906954-34906955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs148326015	chr11:34907029-34907030	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374755286	chr11:34907071-34907072	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 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:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34859000-34909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:34877600-34906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
4	chr11:34888000-34907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:34891200-34907000	Weak transcription	Thymus	Thymus
6	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:34891400-34907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:34891600-34906400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:34892600-34913000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:34894600-34909600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:34895000-34912000	Weak transcription	Brain Angular Gyrus	brain
13	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
14	chr11:34895400-34912000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:34895800-34907000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:34896000-34908200	Weak transcription	Liver	Liver
17	chr11:34896000-34912200	Weak transcription	K562	blood
18	chr11:34896200-34909800	Weak transcription	Pancreas	Pancrea
19	chr11:34896600-34907200	Weak transcription	Esophagus	oesophagus
20	chr11:34896600-34911600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:34897000-34913000	Weak transcription	Lung	lung
22	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
23	chr11:34897200-34907200	Weak transcription	Aorta	Aorta
24	chr11:34897200-34907400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
26	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
27	chr11:34898400-34908200	Weak transcription	Psoas Muscle	Psoas
28	chr11:34898400-34912800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:34898600-34908400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:34899000-34917400	Weak transcription	HSMM	muscle
31	chr11:34899600-34907800	Weak transcription	Small Intestine	intestine
32	chr11:34900000-34911600	Weak transcription	A549	lung
33	chr11:34900000-34918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:34900200-34917200	Weak transcription	HUVEC	blood vessel
35	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:34900600-34909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:34901000-34911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:34901200-34907200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:34901200-34910600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:34901400-34906000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:34901400-34907000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:34901400-34917400	Weak transcription	Fetal Kidney	kidney
43	chr11:34901400-34920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:34901600-34907200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:34901600-34910200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:34901600-34918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:34901800-34908000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:34901800-34909800	Weak transcription	Osteobl	bone
49	chr11:34901800-34916800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:34901800-34917000	Weak transcription	Rectal Mucosa Donor 29	rectum

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