Variant report

Variant	nsv588926
Chromosome Location	chr22:33781177-33782707
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	chr22:33782340-33782490	GM06990	blood:	n/a	n/a
3	CTCF	chr22:33782400-33782550	GM12875	blood:	n/a	n/a
4	CTCF	chr22:33782380-33782530	GM12869	blood:	n/a	n/a
5	CTCF	chr22:33782327-33782622	GM12878	blood:	n/a	n/a
6	CTCF	chr22:33782382-33782521	HepG2	liver:	n/a	n/a
7	CTCF	chr22:33782467-33782501	GM19240	blood:	n/a	n/a
8	CTCF	chr22:33782425-33782522	HepG2	liver:	n/a	n/a
9	CTCF	chr22:33782460-33782610	GM12878	blood:	n/a	n/a
10	CTCF	chr22:33782520-33782670	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr22:33782400-33782550	GM12872	blood:	n/a	n/a
12	CTCF	chr22:33782380-33782530	GM12865	blood:	n/a	n/a
13	CTCF	chr22:33782436-33782507	GM12878	blood:	n/a	n/a
14	CTCF	chr22:33782360-33782510	HepG2	liver:	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	chr22:33781617-33781985	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
21	MAFK	chr22:33781636-33781966	IMR90	lung:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
22	MAFK	chr22:33781640-33781978	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
23	RAD21	chr22:33782206-33782587	HepG2	liver:	n/a	n/a
24	SMC3	chr22:33782381-33782481	HepG2	liver:	n/a	n/a
25	SMC3	chr22:33782373-33782574	GM12878	blood:	n/a	n/a
26	WRNIP1	chr22:33781673-33781690	GM12878	blood:	n/a	n/a
27	ZNF143	chr22:33782345-33782600	GM12878	blood:	n/a	n/a
28	ZNF143	chr22:33782489-33782555	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
LARGE	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537020317	chr22:33781228-33781229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186846545	chr22:33781230-33781231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141533729	chr22:33781234-33781235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556187975	chr22:33781263-33781264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376763397	chr22:33781281-33781282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2267195	chr22:33781322-33781323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545030912	chr22:33781347-33781348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2267196	chr22:33781401-33781402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145294627	chr22:33781475-33781476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541590958	chr22:33781492-33781493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9607040	chr22:33781498-33781499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190202637	chr22:33781509-33781510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75780176	chr22:33781534-33781535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71320973	chr22:33781587-33781588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16992228	chr22:33781654-33781655	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73405312	chr22:33781706-33781707	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532334323	chr22:33781726-33781727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112921967	chr22:33781729-33781730	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182366317	chr22:33781793-33781794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147887081	chr22:33781801-33781802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9621688	chr22:33781806-33781807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186679632	chr22:33781817-33781818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567390831	chr22:33781827-33781828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536350301	chr22:33781835-33781836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556253033	chr22:33781865-33781866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191235298	chr22:33781876-33781877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373184042	chr22:33781883-33781884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532986204	chr22:33781923-33781924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538610309	chr22:33781957-33781958	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546277046	chr22:33781972-33781973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558296115	chr22:33782003-33782004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1033373	chr22:33782008-33782009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75204321	chr22:33782024-33782025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139825150	chr22:33782039-33782040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577502621	chr22:33782077-33782078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574886346	chr22:33782157-33782158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142872366	chr22:33782165-33782166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111831624	chr22:33782214-33782215	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369627321	chr22:33782215-33782216	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184229915	chr22:33782240-33782241	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550616706	chr22:33782272-33782273	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562564489	chr22:33782294-33782295	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188683109	chr22:33782326-33782327	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527574662	chr22:33782341-33782342	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs13056549	chr22:33782415-33782416	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567555104	chr22:33782435-33782436	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs193187666	chr22:33782499-33782500	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550020653	chr22:33782508-33782509	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569746113	chr22:33782515-33782516	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374050036	chr22:33782520-33782521	Weak transcription Enhancers	TF binding region	1 gene(s)	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
2	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
3	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
4	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
9	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:33776200-33782200	Weak transcription	HepG2	liver
15	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:33776800-33781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:33776800-33781200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr22:33777000-33781200	Strong transcription	Fetal Stomach	stomach
19	chr22:33777200-33786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:33778200-33781400	Weak transcription	Brain Angular Gyrus	brain
23	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
26	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
27	chr22:33778800-33784200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:33778800-33786400	Weak transcription	Lung	lung
29	chr22:33778800-33789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:33778800-33796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:33778800-33796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:33779000-33800000	Weak transcription	Fetal Intestine Small	intestine
34	chr22:33779200-33786400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:33780000-33783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:33780200-33802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:33780400-33782000	Weak transcription	Fetal Brain Female	brain
39	chr22:33780400-33796600	Weak transcription	Right Ventricle	heart
40	chr22:33780600-33782600	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:33780600-33782800	Weak transcription	Aorta	Aorta
42	chr22:33780600-33783800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:33780600-33789400	Weak transcription	Ovary	ovary
44	chr22:33780600-33789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:33780600-33796600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr22:33780600-33796800	Weak transcription	Left Ventricle	heart
47	chr22:33780600-33805200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:33780600-33834000	Weak transcription	Gastric	stomach
49	chr22:33780800-33785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:33780800-33789400	Weak transcription	Fetal Intestine Large	intestine

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