Variant report

Variant	nsv528534
Chromosome Location	chr22:33459131-33469031
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	BHLHE40	chr22:33464713-33464882	K562	blood:	n/a	chr22:33464791-33464800 chr22:33464792-33464801 chr22:33464791-33464800
2	CEBPB	chr22:33463785-33463965	HepG2	liver:	n/a	n/a
3	GATA3	chr22:33465010-33465282	SH-SY5Y	brain:	n/a	n/a
4	MAFF	chr22:33459547-33460019	HepG2	liver:	n/a	chr22:33459731-33459749
5	MAFF	chr22:33459559-33459937	K562	blood:	n/a	chr22:33459731-33459749
6	MAFF	chr22:33468076-33468189	HepG2	liver:	n/a	n/a
7	MAFK	chr22:33459555-33459931	IMR90	lung:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
8	MAFK	chr22:33459487-33460020	H1-hESC	embryonic stem cell:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
9	MAFK	chr22:33459551-33460016	HepG2	liver:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
10	MAFK	chr22:33468005-33468242	HepG2	liver:	n/a	n/a
11	MAFK	chr22:33468099-33468299	HepG2	liver:	n/a	n/a
12	MAFK	chr22:33459402-33460081	GM12878	blood:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
13	MAFK	chr22:33459561-33459927	K562	blood:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
14	MAFK	chr22:33459568-33459930	Hela-S3	cervix:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
15	MAFK	chr22:33459554-33459939	HepG2	liver:	n/a	chr22:33459733-33459748 chr22:33459734-33459745 chr22:33459733-33459749 chr22:33459733-33459744 chr22:33459733-33459744
16	MAX	chr22:33459692-33459845	H1-hESC	embryonic stem cell:	n/a	chr22:33459759-33459768
17	POLR2A	chr22:33465530-33465599	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr22:33464645-33464979	H1-neurons	neurons:	n/a	n/a
19	RFX5	chr22:33459616-33459847	HepG2	liver:	n/a	chr22:33459754-33459769 chr22:33459754-33459769 chr22:33459754-33459769 chr22:33459756-33459771 chr22:33459753-33459770
20	SIN3A	chr22:33458904-33459201	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr22:33468006-33468186	HepG2	liver:	n/a	chr22:33468104-33468115

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33030812-33041554..22:33452523-33459358	GM12878	blood:
2	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
3	22:32170492-32188129..22:33464841-33469957	Hela-S3	cervix:
4	22:32846948-32860159..22:33452523-33459358	Hela-S3	cervix:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000184459	chromatin interactions
ENSG00000251890	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000240647	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5998714	chr22:33459131-33459132	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55806630	chr22:33459164-33459165	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs562959682	chr22:33459172-33459173	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs531757898	chr22:33459241-33459242	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs545365039	chr22:33459333-33459334	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs563137774	chr22:33459374-33459375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139654716	chr22:33459386-33459387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34845875	chr22:33459459-33459460	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562493566	chr22:33459460-33459461	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398036935	chr22:33459470-33459471	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533218069	chr22:33459490-33459491	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182436945	chr22:33459640-33459641	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149643443	chr22:33459650-33459651	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532113555	chr22:33459694-33459695	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548814875	chr22:33459708-33459709	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553291446	chr22:33459722-33459723	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568915586	chr22:33459742-33459743	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372844427	chr22:33459792-33459793	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537581030	chr22:33459848-33459849	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551323263	chr22:33459851-33459852	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571176997	chr22:33459864-33459865	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372320385	chr22:33459882-33459883	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562147051	chr22:33459959-33459960	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554516124	chr22:33459960-33459961	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116832347	chr22:33459968-33459969	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5754401	chr22:33459981-33459982	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80207613	chr22:33460024-33460025	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573342621	chr22:33460034-33460035	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556824168	chr22:33460049-33460050	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5754402	chr22:33460051-33460052	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189094076	chr22:33460059-33460060	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545184350	chr22:33460106-33460107	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544718902	chr22:33460110-33460111	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565252770	chr22:33460207-33460208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113032435	chr22:33460231-33460232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369047649	chr22:33460248-33460249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540095119	chr22:33460268-33460269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560014897	chr22:33460325-33460326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529181204	chr22:33460342-33460343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13057573	chr22:33460344-33460345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113414674	chr22:33460382-33460383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373006228	chr22:33460419-33460420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574921274	chr22:33460433-33460434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551192111	chr22:33460441-33460442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13057082	chr22:33460492-33460493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533759831	chr22:33460504-33460505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9621628	chr22:33460507-33460508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545475076	chr22:33460510-33460511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76799323	chr22:33460511-33460512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560890440	chr22:33460527-33460528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33454800-33459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33454800-33465000	Weak transcription	Fetal Brain Female	brain
3	chr22:33457200-33460000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr22:33457200-33460000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr22:33457200-33460000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr22:33457600-33461000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr22:33457800-33460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33458000-33459800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr22:33458000-33459800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr22:33458400-33459200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:33458400-33460200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr22:33459000-33459400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:33459000-33460000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr22:33459000-33460200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr22:33459400-33459800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr22:33459600-33460200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33459600-33460200	Enhancers	Fetal Brain Male	brain
18	chr22:33459800-33460000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr22:33459800-33460200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr22:33459800-33460200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:33460000-33462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:33460000-33462600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:33460000-33462800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:33460000-33462800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:33460200-33460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:33460200-33462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:33460200-33462800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:33461000-33462600	Enhancers	Primary B cells from peripheral blood	blood
29	chr22:33461200-33461400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:33461200-33461400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr22:33461400-33462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:33462400-33463200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr22:33462400-33463200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:33462600-33462800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr22:33462600-33463000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr22:33462600-33463200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr22:33462600-33463200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:33462800-33463000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:33462800-33463000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr22:33462800-33463200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr22:33462800-33463200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr22:33462800-33463200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr22:33462800-33463200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr22:33462800-33463200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:33463000-33464800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:33464800-33465400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:33465000-33465200	Enhancers	Fetal Brain Female	brain
48	chr22:33465200-33466000	Weak transcription	Fetal Brain Male	brain
49	chr22:33465400-33470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:33466000-33466600	Enhancers	Fetal Brain Male	brain

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