Variant report

Variant	esv3363382
Chromosome Location	chr22:28594602-28596550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570776930	chr22:28594613-28594614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535008250	chr22:28594626-28594627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553511150	chr22:28594632-28594633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574967984	chr22:28594641-28594642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533327164	chr22:28594691-28594692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556734760	chr22:28594692-28594693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9625431	chr22:28594769-28594770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182214341	chr22:28594786-28594787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138223584	chr22:28594817-28594818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186563558	chr22:28595069-28595070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573150829	chr22:28595174-28595175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371683414	chr22:28595188-28595189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540566248	chr22:28595212-28595213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12159983	chr22:28595307-28595308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191751198	chr22:28595355-28595356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374924002	chr22:28595372-28595373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372889632	chr22:28595397-28595398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58497797	chr22:28595399-28595400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34788799	chr22:28595401-28595402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28717036	chr22:28595518-28595519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184690739	chr22:28595519-28595520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188778075	chr22:28595532-28595533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67157147	chr22:28595536-28595537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60177369	chr22:28595537-28595538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370771752	chr22:28595573-28595574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550757634	chr22:28595703-28595704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563594526	chr22:28595731-28595732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113401173	chr22:28595739-28595740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112487388	chr22:28595774-28595775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375233674	chr22:28595803-28595804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552126977	chr22:28595862-28595863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570540988	chr22:28595898-28595899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534970155	chr22:28595948-28595949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35973899	chr22:28595959-28595960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192900660	chr22:28595997-28595998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558614551	chr22:28596043-28596044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113264025	chr22:28596149-28596150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35447997	chr22:28596185-28596186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535632699	chr22:28596204-28596205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12160801	chr22:28596205-28596206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559044781	chr22:28596480-28596481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189513984	chr22:28596518-28596519	Enhancers Weak transcription	n/a	n/a	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
Breast cancer	21509527	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
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28572200-28597800	Weak transcription	Dnd41	blood
2	chr22:28577000-28603600	Weak transcription	Aorta	Aorta
3	chr22:28577800-28600400	Weak transcription	Right Atrium	heart
4	chr22:28594600-28595000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:28594600-28595000	Enhancers	NHEK	skin
6	chr22:28594800-28595000	Enhancers	Adipose Nuclei	Adipose
7	chr22:28596400-28596800	Enhancers	Cortex derived primary cultured neurospheres	brain

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