Variant report

Variant	esv3520575
Chromosome Location	chr22:31910402-31914600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12330084	chr22:31910404-31910405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143642341	chr22:31910416-31910417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569432704	chr22:31910459-31910460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188193969	chr22:31910504-31910505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193152925	chr22:31910509-31910510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12485131	chr22:31910510-31910511	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12485142	chr22:31910519-31910520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151041360	chr22:31910569-31910570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112136461	chr22:31910576-31910577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572781943	chr22:31910585-31910586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374452823	chr22:31910594-31910595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373981161	chr22:31910611-31910612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530230541	chr22:31910671-31910672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542095016	chr22:31910687-31910688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5753671	chr22:31910734-31910735	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs575056407	chr22:31910745-31910746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78264915	chr22:31910776-31910777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76414277	chr22:31910777-31910778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544020558	chr22:31910797-31910798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564216938	chr22:31910848-31910849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189783747	chr22:31910851-31910852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28712331	chr22:31910895-31910896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570587503	chr22:31910902-31910903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180975965	chr22:31910963-31910964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183682163	chr22:31910966-31910967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566886676	chr22:31910987-31910988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560530128	chr22:31911036-31911037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529318603	chr22:31911038-31911039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549607616	chr22:31911044-31911045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569579442	chr22:31911045-31911046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531906834	chr22:31911049-31911050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532681012	chr22:31911091-31911092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140968983	chr22:31911108-31911109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150220050	chr22:31911135-31911136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539501809	chr22:31911143-31911144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534563086	chr22:31911157-31911158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145839795	chr22:31911307-31911308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202133143	chr22:31911308-31911309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570036794	chr22:31911309-31911310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577412266	chr22:31911310-31911311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148519922	chr22:31911314-31911315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397703242	chr22:31911325-31911326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3068283	chr22:31911326-31911327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370246600	chr22:31911327-31911328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569104328	chr22:31911343-31911344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552831309	chr22:31911348-31911349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189526452	chr22:31911389-31911390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566457424	chr22:31911420-31911421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535107149	chr22:31911438-31911439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115953817	chr22:31911448-31911449	Weak transcription Strong 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
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
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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
2	chr22:31893200-31934800	Weak transcription	Ovary	ovary
3	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:31893600-31925600	Weak transcription	Gastric	stomach
6	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
9	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
11	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:31893800-31914600	Weak transcription	HepG2	liver
13	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
15	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
17	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
20	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:31893800-31934800	Weak transcription	HMEC	breast
22	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
23	chr22:31894000-31913200	Weak transcription	K562	blood
24	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
27	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
28	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
31	chr22:31900200-31914600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:31900200-31926400	Weak transcription	HSMM	muscle
33	chr22:31900600-31913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:31900800-31919000	Weak transcription	HUVEC	blood vessel
35	chr22:31900800-31940800	Weak transcription	NHEK	skin
36	chr22:31901000-31911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:31902000-31914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr22:31902400-31915000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
43	chr22:31903600-31913800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:31903800-31910600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:31903800-31913600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr22:31904600-31912000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:31904600-31914200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:31904600-31918600	Strong transcription	Primary T cells from cord blood	blood
50	chr22:31904800-31912200	Strong transcription	Fetal Thymus	thymus

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