Variant report

Variant	esv3527365
Chromosome Location	chr22:33909802-33910292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 67 )

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	rs5998978	chr22:33909812-33909813	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58043155	chr22:33909832-33909833	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557858978	chr22:33909839-33909840	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577728248	chr22:33909843-33909844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576497443	chr22:33909875-33909876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533581634	chr22:33909878-33909879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553727001	chr22:33909893-33909894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1807492	chr22:33909895-33909896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117925048	chr22:33909903-33909904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555011198	chr22:33909906-33909907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567185286	chr22:33909934-33909935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562748522	chr22:33909987-33909988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112399398	chr22:33910004-33910005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545117668	chr22:33910036-33910037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs5998979	chr22:33910062-33910063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527754703	chr22:33910176-33910177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146670202	chr22:33910250-33910251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111390766	chr22:33910268-33910269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60301225	chr22:33910269-33910270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs68006363	chr22:33910278-33910279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397818298	chr22:33910291-33910292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33885000-33915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:33889200-33915000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:33893800-33915000	Weak transcription	GM12878-XiMat	blood
4	chr22:33901400-33911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33903000-33911200	Weak transcription	Right Ventricle	heart
6	chr22:33904800-33915200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:33905400-33917200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33906400-33935800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:33906600-33920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:33906800-33911600	Weak transcription	Fetal Intestine Large	intestine
11	chr22:33906800-33911800	Weak transcription	Gastric	stomach
12	chr22:33908600-33917000	Enhancers	HepG2	liver
13	chr22:33908800-33910200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:33908800-33910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33909000-33910000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33909000-33910000	Enhancers	Liver	Liver
17	chr22:33909000-33910200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr22:33909000-33910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:33909000-33910200	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:33909000-33910200	Enhancers	Brain Hippocampus Middle	brain
21	chr22:33909000-33910200	Enhancers	Fetal Heart	heart
22	chr22:33909000-33910200	Enhancers	Rectal Smooth Muscle	rectum
23	chr22:33909000-33910200	Enhancers	Stomach Smooth Muscle	stomach
24	chr22:33909000-33910200	Enhancers	NHDF-Ad	bronchial
25	chr22:33909200-33910000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr22:33909200-33910200	Enhancers	Fetal Lung	lung
27	chr22:33909400-33910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:33909400-33910000	Enhancers	Brain Angular Gyrus	brain
29	chr22:33909400-33910200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr22:33909400-33910200	Enhancers	Brain Substantia Nigra	brain
31	chr22:33909400-33911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:33909400-33915000	Weak transcription	Brain Anterior Caudate	brain
33	chr22:33909400-33915600	Weak transcription	Fetal Kidney	kidney
34	chr22:33909400-33917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:33909400-33920800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:33909600-33910000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr22:33909600-33910400	Enhancers	Fetal Brain Male	brain
38	chr22:33909600-33911600	Weak transcription	Ovary	ovary
39	chr22:33909600-33911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:33909600-33914400	Weak transcription	Fetal Stomach	stomach
41	chr22:33909600-33915000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:33909600-33915200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:33909600-33917000	Weak transcription	Aorta	Aorta
44	chr22:33909800-33910000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:33909800-33910200	Enhancers	Stomach Mucosa	stomach
46	chr22:33909800-33910400	Enhancers	A549	lung
47	chr22:33909800-33911600	Weak transcription	Left Ventricle	heart
48	chr22:33909800-33914800	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:33909800-33915200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:33909800-33915200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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