Variant report

Variant	nsv962639
Chromosome Location	chr20:22254826-22283685
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	chr20:22282710-22283074	A549	lung:	n/a	n/a
2	CEBPB	chr20:22282701-22283058	IMR90	lung:	n/a	n/a
3	CEBPB	chr20:22282709-22283065	MCF-7	breast:	n/a	n/a
4	CEBPB	chr20:22282694-22283135	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:22254991-22255364	HepG2	liver:	n/a	n/a
6	CEBPB	chr20:22254994-22255345	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr20:22255028-22255328	K562	blood:	n/a	n/a
8	CEBPB	chr20:22255019-22255293	MCF-7	breast:	n/a	n/a
9	CEBPB	chr20:22255003-22255283	A549	lung:	n/a	n/a
10	CEBPB	chr20:22254996-22255349	A549	lung:	n/a	n/a
11	CEBPB	chr20:22278192-22278477	HepG2	liver:	n/a	chr20:22278334-22278345 chr20:22278334-22278347
12	CEBPB	chr20:22254965-22255438	A549	lung:	n/a	n/a
13	CEBPB	chr20:22282812-22283057	K562	blood:	n/a	n/a
14	CEBPB	chr20:22254983-22255252	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:22282754-22283004	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr20:22266300-22266450	GM12878	blood:	n/a	chr20:22266389-22266407
17	CTCF	chr20:22266328-22266461	MCF-7	breast:	n/a	chr20:22266389-22266407
18	CTCF	chr20:22266360-22266510	HepG2	liver:	n/a	chr20:22266389-22266407
19	CTCF	chr20:22266307-22266482	MCF-7	breast:	n/a	chr20:22266389-22266407
20	CTCF	chr20:22266350-22266444	GM12892	blood:	n/a	chr20:22266389-22266407
21	CTCF	chr20:22266328-22266434	K562	blood:	n/a	chr20:22266389-22266407
22	CTCF	chr20:22269620-22269770	GM12865	blood:	n/a	n/a
23	CTCF	chr20:22266329-22266436	GM19238	blood:	n/a	chr20:22266389-22266407
24	CTCF	chr20:22266420-22266570	GM12869	blood:	n/a	n/a
25	CTCF	chr20:22266343-22266414	GM12891	blood:	n/a	chr20:22266389-22266407
26	CTCF	chr20:22266280-22266430	HepG2	liver:	n/a	chr20:22266389-22266407
27	CTCF	chr20:22266344-22266450	LNCaP	prostate:	n/a	chr20:22266389-22266407
28	CTCF	chr20:22266309-22266461	HepG2	liver:	n/a	chr20:22266389-22266407
29	CTCF	chr20:22266300-22266450	A549	lung:	n/a	chr20:22266389-22266407
30	CTCF	chr20:22266373-22266410	ProgFib	skin:	n/a	chr20:22266389-22266407
31	CTCF	chr20:22266340-22266490	HMEC	breast:	n/a	chr20:22266389-22266407
32	CTCF	chr20:22266340-22266490	WERI-Rb-1	eye:	n/a	chr20:22266389-22266407
33	CTCF	chr20:22266500-22266650	NB4	blood:	n/a	n/a
34	CTCF	chr20:22266280-22266430	MCF-7	breast:	n/a	chr20:22266389-22266407
35	CTCF	chr20:22266280-22266430	NB4	blood:	n/a	chr20:22266389-22266407
36	CTCF	chr20:22266260-22266410	SAEC	small airway:	n/a	chr20:22266389-22266407
37	CTCF	chr20:22266392-22266443	LNCaP	prostate:	n/a	n/a
38	CTCF	chr20:22266320-22266470	MCF-7	breast:	n/a	chr20:22266389-22266407
39	CTCF	chr20:22266244-22266534	GM12878	blood:	n/a	chr20:22266389-22266407
40	CTCF	chr20:22266338-22266458	A549	lung:	n/a	chr20:22266389-22266407
41	CTCF	chr20:22277775-22277962	NHEK	skin:	n/a	chr20:22277798-22277807
42	CTCF	chr20:22266320-22266470	NHEK	skin:	n/a	chr20:22266389-22266407
43	CTCF	chr20:22266307-22266475	MCF-7	breast:	n/a	chr20:22266389-22266407
44	CTCF	chr20:22266298-22266482	NHEK	skin:	n/a	chr20:22266389-22266407
45	CTCF	chr20:22266314-22266451	H1-hESC	embryonic stem cell:	n/a	chr20:22266389-22266407
46	CTCF	chr20:22266314-22266468	HepG2	liver:	n/a	chr20:22266389-22266407
47	CTCF	chr20:22266300-22266450	HEK293	kidney:	n/a	chr20:22266389-22266407
48	CTCF	chr20:22266301-22266483	MCF-7	breast:	n/a	chr20:22266389-22266407
49	CTCF	chr20:22266290-22266465	H1-hESC	embryonic stem cell:	n/a	chr20:22266389-22266407
50	CTCF	chr20:22266322-22266430	MCF-7	breast:	n/a	chr20:22266389-22266407

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:21792123..21794803-chr20:22267492..22269699,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-8	chr20:22263182-22263310	XLOC_013679
2	lnc-FOXA2-8	chr20:22257059-22261178	XLOC_013679
3	lnc-FOXA2-8	chr20:22262992-22263053	XLOC_013679
4	lnc-FOXA2-8	chr20:22262992-22263124	XLOC_013679
5	lnc-FOXA2-8	chr20:22260866-22261178	XLOC_013679
6	lnc-FOXA2-8	chr20:22255046-22255149	NONHSAT078967
7	lnc-FOXA2-8	chr20:22255046-22255184	XLOC_013679

Variant related genes	Relation type
ENSG00000225170	TF binding region
ENSG00000225321	TF binding region
S100A8	miRNA target sites
MXD1	miRNA target sites
UBE2F	miRNA target sites
RYR3	miRNA target sites

Extended variants
information (count: 798 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528427481	chr20:22254869-22254870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367949124	chr20:22254901-22254902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77713739	chr20:22254953-22254954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4815101	chr20:22255000-22255001	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530606999	chr20:22255028-22255029	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373930044	chr20:22255047-22255048	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs188564153	chr20:22255085-22255086	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs34925268	chr20:22255090-22255091	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs148179868	chr20:22255128-22255129	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs140211925	chr20:22255133-22255134	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs4815102	chr20:22255173-22255174	Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181180344	chr20:22255192-22255193	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145245376	chr20:22255293-22255294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34634928	chr20:22255319-22255320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541692596	chr20:22255330-22255331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372303216	chr20:22255345-22255346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575827131	chr20:22255392-22255393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185828432	chr20:22255432-22255433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6106487	chr20:22256216-22256217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76371559	chr20:22256224-22256225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76524360	chr20:22256230-22256231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs709009	chr20:22256235-22256236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569622775	chr20:22256264-22256265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6113607	chr20:22256270-22256271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138575955	chr20:22256288-22256289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568668812	chr20:22256297-22256298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6106488	chr20:22256329-22256330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536376081	chr20:22256334-22256335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552780124	chr20:22256335-22256336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6036078	chr20:22256357-22256358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544653787	chr20:22256433-22256434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6106489	chr20:22256471-22256472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558815590	chr20:22256497-22256498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187302125	chr20:22256582-22256583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190642464	chr20:22256587-22256588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182500769	chr20:22256614-22256615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149309579	chr20:22256625-22256626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540753632	chr20:22256628-22256629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560350195	chr20:22256649-22256650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576501876	chr20:22256747-22256748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552248972	chr20:22256782-22256783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187179224	chr20:22256784-22256785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533954862	chr20:22256796-22256797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552608744	chr20:22256827-22256828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532092948	chr20:22256863-22256864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144602164	chr20:22256900-22256901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148484834	chr20:22256930-22256931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529849374	chr20:22256938-22256939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553057337	chr20:22256986-22256987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566401022	chr20:22257022-22257023	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22254800-22255200	Enhancers	HSMMtube	muscle
2	chr20:22256200-22257000	Enhancers	Dnd41	blood
3	chr20:22257000-22257400	Flanking Active TSS	Dnd41	blood
4	chr20:22257400-22257600	Enhancers	Dnd41	blood
5	chr20:22257600-22259000	Weak transcription	Dnd41	blood
6	chr20:22259000-22264400	Enhancers	Dnd41	blood
7	chr20:22262400-22263000	Enhancers	NHEK	skin
8	chr20:22262400-22263200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:22262800-22263200	Enhancers	HSMM	muscle
10	chr20:22268800-22269400	Enhancers	Esophagus	oesophagus
11	chr20:22268800-22269800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:22268800-22270000	Enhancers	Fetal Muscle Leg	muscle
13	chr20:22268800-22270400	Enhancers	HMEC	breast
14	chr20:22268800-22270400	Enhancers	HSMM	muscle
15	chr20:22268800-22271000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:22268800-22271000	Enhancers	NHEK	skin
17	chr20:22268800-22271400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:22269000-22270000	Enhancers	HSMMtube	muscle
19	chr20:22269200-22270200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr20:22269600-22270800	Enhancers	Fetal Stomach	stomach
21	chr20:22271400-22276600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:22276400-22277800	Enhancers	Esophagus	oesophagus
23	chr20:22276600-22278400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:22276600-22278600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:22276600-22278600	Enhancers	NHEK	skin
26	chr20:22277600-22278000	Enhancers	HSMM	muscle
27	chr20:22277600-22278400	Enhancers	HMEC	breast
28	chr20:22277800-22278200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:22278000-22278400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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