Variant report

Variant	esv3440851
Chromosome Location	chr22:29008608-29010293
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	chr22:29009654..29012223-chr22:29227592..29229292,2	K562	blood:
2	chr22:29010223..29011832-chr22:29028588..29030915,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8136767	chr22:29008626-29008627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563647427	chr22:29008634-29008635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534336657	chr22:29008734-29008735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551042829	chr22:29008786-29008787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539244287	chr22:29008787-29008788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547549931	chr22:29008808-29008809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565471631	chr22:29008809-29008810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35826437	chr22:29008817-29008818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5762720	chr22:29008856-29008857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374665062	chr22:29008873-29008874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4432566	chr22:29008882-29008883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186184919	chr22:29008888-29008889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191855307	chr22:29008889-29008890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536601032	chr22:29008905-29008906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149350199	chr22:29008934-29008935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184092228	chr22:29008954-29008955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541264024	chr22:29008975-29008976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553185472	chr22:29008990-29008991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369839749	chr22:29009093-29009094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557014622	chr22:29009099-29009100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572621265	chr22:29009105-29009106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144150028	chr22:29009156-29009157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6005824	chr22:29009197-29009198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531735444	chr22:29009202-29009203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543425290	chr22:29009209-29009210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565588143	chr22:29009234-29009235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187215527	chr22:29009246-29009247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190493816	chr22:29009270-29009271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183030968	chr22:29009272-29009273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529779520	chr22:29009303-29009304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548274669	chr22:29009304-29009305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569601580	chr22:29009309-29009310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537068365	chr22:29009328-29009329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186945025	chr22:29009329-29009330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192965878	chr22:29009403-29009404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144427739	chr22:29009431-29009432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553246825	chr22:29009435-29009436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574695741	chr22:29009438-29009439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115886470	chr22:29009450-29009451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555068354	chr22:29009474-29009475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576425343	chr22:29009521-29009522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6519758	chr22:29009668-29009669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551518181	chr22:29009702-29009703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532714286	chr22:29009741-29009742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541315276	chr22:29009774-29009775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559576031	chr22:29009813-29009814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371130925	chr22:29009829-29009830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374316597	chr22:29009866-29009867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368238684	chr22:29009867-29009868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112274770	chr22:29009888-29009889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29003000-29025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:29004800-29014600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr22:29004800-29016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:29004800-29026000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:29004800-29027400	Weak transcription	Aorta	Aorta
7	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:29005800-29054000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr22:29006000-29016400	Weak transcription	Fetal Lung	lung
10	chr22:29006200-29013400	Weak transcription	Ovary	ovary
11	chr22:29006400-29021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:29006400-29037000	Weak transcription	Fetal Stomach	stomach
13	chr22:29006600-29013600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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