Variant report

Variant	esv3421869
Chromosome Location	chr22:30253452-30255550
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	chr22:30240391..30242312-chr22:30254416..30255969,2	MCF-7	breast:
2	chr22:30234009..30236728-chr22:30254612..30257175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550857086	chr22:30253495-30253496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374263906	chr22:30253526-30253527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561930422	chr22:30253537-30253538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544352551	chr22:30253542-30253543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13055474	chr22:30253569-30253570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13055634	chr22:30253577-30253578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142437777	chr22:30253611-30253612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557660623	chr22:30253628-30253629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368670047	chr22:30253650-30253651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371459780	chr22:30253664-30253665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564348471	chr22:30253691-30253692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528517962	chr22:30253695-30253696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540374112	chr22:30253749-30253750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561739057	chr22:30253768-30253769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529324237	chr22:30253779-30253780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564609706	chr22:30253830-30253831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550579898	chr22:30253831-30253832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113144507	chr22:30253858-30253859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111476703	chr22:30253859-30253860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372147319	chr22:30253862-30253863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564535312	chr22:30253898-30253899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562774910	chr22:30253911-30253912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191406242	chr22:30253933-30253934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551564730	chr22:30253959-30253960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566678392	chr22:30253962-30253963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533873631	chr22:30254007-30254008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549131776	chr22:30254064-30254065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13055196	chr22:30254066-30254067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184657797	chr22:30254067-30254068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28379948	chr22:30254074-30254075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537817273	chr22:30254154-30254155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555900342	chr22:30254173-30254174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9614084	chr22:30254175-30254176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8142188	chr22:30254207-30254208	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs557925984	chr22:30254220-30254221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573141396	chr22:30254312-30254313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8140871	chr22:30254321-30254322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62227986	chr22:30254328-30254329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376672922	chr22:30254424-30254425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181662789	chr22:30254558-30254559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540314584	chr22:30254576-30254577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562238658	chr22:30254590-30254591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188947368	chr22:30254632-30254633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372661434	chr22:30254634-30254635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549414134	chr22:30254694-30254695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369175872	chr22:30254729-30254730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111985040	chr22:30254833-30254834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544560625	chr22:30254856-30254857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373977216	chr22:30254921-30254922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533210083	chr22:30254926-30254927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30248400-30254600	Weak transcription	HSMMtube	muscle
2	chr22:30253000-30255200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30253000-30257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:30253000-30257200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:30253200-30255200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr22:30253200-30255200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:30255200-30255400	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30255200-30255600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr22:30255200-30255800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr22:30255200-30258400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:30255400-30256800	Enhancers	Primary B cells from cord blood	blood

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