Variant report

Variant	esv993498
Chromosome Location	chr22:29065128-29068162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29065798..29067377-chr22:29180206..29181854,2	MCF-7	breast:
2	chr22:29054009..29055541-chr22:29066036..29068259,2	K562	blood:
3	chr22:29065542..29067314-chr3:70716964..70718547,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111882280	chr22:29065146-29065147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9613661	chr22:29065149-29065150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546371341	chr22:29065154-29065155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564484213	chr22:29065179-29065180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113560091	chr22:29065214-29065215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368983463	chr22:29065290-29065291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75109143	chr22:29065291-29065292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528196524	chr22:29065330-29065331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191001489	chr22:29065337-29065338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536728787	chr22:29065427-29065428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528833861	chr22:29065428-29065429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550506120	chr22:29065462-29065463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568800551	chr22:29065474-29065475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539313737	chr22:29065492-29065493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368016214	chr22:29065551-29065552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551554697	chr22:29065569-29065570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566520553	chr22:29065601-29065602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535134852	chr22:29065607-29065608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553489504	chr22:29065642-29065643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182796997	chr22:29065697-29065698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185937686	chr22:29065815-29065816	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201196518	chr22:29065955-29065956	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557728514	chr22:29065959-29065960	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189956125	chr22:29065989-29065990	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183292014	chr22:29066025-29066026	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374865644	chr22:29066086-29066087	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577824033	chr22:29066087-29066088	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398036761	chr22:29066096-29066097	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9613662	chr22:29066195-29066196	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577334864	chr22:29066197-29066198	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564727004	chr22:29066222-29066223	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143947588	chr22:29066272-29066273	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575745275	chr22:29066345-29066346	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546176074	chr22:29066364-29066365	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561442426	chr22:29066451-29066452	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562982025	chr22:29066460-29066461	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544673905	chr22:29066525-29066526	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs118181016	chr22:29066568-29066569	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139398215	chr22:29066598-29066599	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550169965	chr22:29066653-29066654	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201625635	chr22:29066669-29066670	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564739231	chr22:29066682-29066683	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202067472	chr22:29066692-29066693	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149278914	chr22:29066693-29066694	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533279344	chr22:29066702-29066703	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146863439	chr22:29066724-29066725	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78566588	chr22:29066747-29066748	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566694160	chr22:29066776-29066777	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75766087	chr22:29066857-29066858	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188156369	chr22:29066900-29066901	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29046400-29073800	Weak transcription	Ovary	ovary
2	chr22:29052600-29074600	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:29053400-29066800	Weak transcription	Fetal Lung	lung
4	chr22:29056800-29074600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:29057600-29070200	Weak transcription	Fetal Stomach	stomach
6	chr22:29058000-29070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:29064600-29074800	Weak transcription	Left Ventricle	heart
8	chr22:29064800-29069800	Weak transcription	HUVEC	blood vessel
9	chr22:29065600-29067000	Enhancers	NHDF-Ad	bronchial
10	chr22:29065800-29066400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
11	chr22:29065800-29067200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29066200-29066400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr22:29066800-29067000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
14	chr22:29066800-29067000	ZNF genes & repeats	Fetal Lung	lung
15	chr22:29066800-29067200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:29066800-29067200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:29066800-29067200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:29067000-29069400	Weak transcription	NHDF-Ad	bronchial
19	chr22:29067000-29069800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:29067000-29074400	Weak transcription	Fetal Lung	lung
21	chr22:29067200-29068600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29067200-29068600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29067200-29073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:29067200-29074400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:29067400-29069600	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29067600-29074400	Weak transcription	Fetal Brain Female	brain
27	chr22:29067800-29074400	Weak transcription	HepG2	liver

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