Variant report

Variant	esv1839104
Chromosome Location	chr22:33779182-33782594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:33782375-33782524	HepG2	liver:	n/a	n/a
2	CTCF	chr22:33782382-33782521	HepG2	liver:	n/a	n/a
3	CTCF	chr22:33782467-33782501	GM19240	blood:	n/a	n/a
4	CTCF	chr22:33782425-33782522	HepG2	liver:	n/a	n/a
5	CTCF	chr22:33782400-33782550	GM12875	blood:	n/a	n/a
6	CTCF	chr22:33782340-33782490	GM06990	blood:	n/a	n/a
7	CTCF	chr22:33782400-33782550	GM12872	blood:	n/a	n/a
8	CTCF	chr22:33782360-33782510	HepG2	liver:	n/a	n/a
9	CTCF	chr22:33782460-33782610	GM12878	blood:	n/a	n/a
10	CTCF	chr22:33782380-33782530	GM12869	blood:	n/a	n/a
11	CTCF	chr22:33782380-33782530	GM12865	blood:	n/a	n/a
12	CTCF	chr22:33782436-33782507	GM12878	blood:	n/a	n/a
13	CTCF	chr22:33782327-33782622	GM12878	blood:	n/a	n/a
14	CTCF	chr22:33782520-33782670	HFF-Myc	foreskin:	n/a	n/a
15	EBF1	chr22:33782199-33782659	GM12878	blood:	n/a	chr22:33782503-33782514
16	ELK1	chr22:33782336-33782522	GM12878	blood:	n/a	n/a
17	MAFF	chr22:33781674-33781931	K562	blood:	n/a	chr22:33781793-33781811
18	MAFF	chr22:33781640-33781957	HepG2	liver:	n/a	chr22:33781793-33781811
19	MAFK	chr22:33781738-33781839	K562	blood:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
20	MAFK	chr22:33781640-33781978	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
21	MAFK	chr22:33781617-33781985	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
22	MAFK	chr22:33781636-33781966	IMR90	lung:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
23	RAD21	chr22:33782206-33782587	HepG2	liver:	n/a	n/a
24	SMC3	chr22:33782373-33782574	GM12878	blood:	n/a	n/a
25	SMC3	chr22:33782381-33782481	HepG2	liver:	n/a	n/a
26	USF2	chr22:33779850-33779939	GM12878	blood:	n/a	n/a
27	WRNIP1	chr22:33781673-33781690	GM12878	blood:	n/a	n/a
28	ZNF143	chr22:33782345-33782600	GM12878	blood:	n/a	n/a
29	ZNF143	chr22:33782489-33782555	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
2	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:
3	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs16992225	chr22:33779182-33779183	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199870255	chr22:33779209-33779210	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548217128	chr22:33779222-33779223	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370787294	chr22:33779223-33779224	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559345374	chr22:33779239-33779240	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573109843	chr22:33779308-33779309	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541631461	chr22:33779319-33779320	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200514535	chr22:33779321-33779322	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561947404	chr22:33779356-33779357	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370475809	chr22:33779362-33779363	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550307308	chr22:33779404-33779405	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568118490	chr22:33779429-33779430	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149179070	chr22:33779433-33779434	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11703454	chr22:33779434-33779435	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546588230	chr22:33779449-33779450	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567023172	chr22:33779487-33779488	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185394724	chr22:33779494-33779495	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549292430	chr22:33779495-33779496	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569477825	chr22:33779514-33779515	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538342470	chr22:33779537-33779538	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368347726	chr22:33779564-33779565	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371843738	chr22:33779635-33779636	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138997245	chr22:33779670-33779671	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578153653	chr22:33779689-33779690	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117851369	chr22:33779690-33779691	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190393831	chr22:33779752-33779753	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142228462	chr22:33779777-33779778	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145276462	chr22:33779807-33779808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs137882353	chr22:33779816-33779817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575048322	chr22:33779834-33779835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544009985	chr22:33779846-33779847	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563803136	chr22:33779851-33779852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532883486	chr22:33779861-33779862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539823860	chr22:33779863-33779864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560126247	chr22:33779875-33779876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192894432	chr22:33779878-33779879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549699670	chr22:33779888-33779889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116177817	chr22:33779896-33779897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142499561	chr22:33779907-33779908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552019649	chr22:33779910-33779911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571743114	chr22:33779972-33779973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73166264	chr22:33779973-33779974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553865245	chr22:33779994-33779995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150525486	chr22:33779998-33779999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73882212	chr22:33780002-33780003	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555593635	chr22:33780016-33780017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562627375	chr22:33780020-33780021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2235151	chr22:33780080-33780081	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543972755	chr22:33780136-33780137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369142194	chr22:33780145-33780146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
3	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
4	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
5	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:33775200-33780000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
12	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:33775600-33779800	Enhancers	Liver	Liver
14	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:33776000-33780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:33776200-33780200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:33776200-33781000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:33776200-33782200	Weak transcription	HepG2	liver
22	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:33776400-33779800	Weak transcription	Spleen	Spleen
24	chr22:33776600-33779400	Weak transcription	Colonic Mucosa	Colon
25	chr22:33776600-33779800	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:33776800-33780200	Weak transcription	Brain Substantia Nigra	brain
27	chr22:33776800-33780400	Strong transcription	Right Ventricle	heart
28	chr22:33776800-33780600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr22:33776800-33780600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr22:33776800-33780600	Strong transcription	Ovary	ovary
31	chr22:33776800-33781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:33776800-33781200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr22:33777000-33780000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:33777000-33780600	Strong transcription	Aorta	Aorta
35	chr22:33777000-33780800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:33777000-33781000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:33777000-33781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:33777000-33781200	Strong transcription	Fetal Stomach	stomach
39	chr22:33777200-33779200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:33777200-33779600	Weak transcription	Fetal Brain Female	brain
41	chr22:33777200-33780000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:33777200-33780600	Strong transcription	Left Ventricle	heart
43	chr22:33777200-33780800	Strong transcription	Fetal Intestine Large	intestine
44	chr22:33777200-33786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:33777400-33781000	Weak transcription	Brain Anterior Caudate	brain
46	chr22:33777600-33779600	Weak transcription	Stomach Mucosa	stomach
47	chr22:33778000-33780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:33778200-33781400	Weak transcription	Brain Angular Gyrus	brain

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