Variant report

Variant	nsv1060419
Chromosome Location	chr20:26209742-26253682
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	ATF1	chr20:26212000-26212002	K562	blood:	n/a	n/a
2	ATF1	chr20:26213000-26213056	K562	blood:	n/a	n/a
3	ATF1	chr20:26210887-26211336	K562	blood:	n/a	n/a
4	ATF1	chr20:26210425-26210440	K562	blood:	n/a	n/a
5	CEBPB	chr20:26231065-26231101	H1-hESC	embryonic stem cell:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
6	CEBPB	chr20:26247536-26247734	HepG2	liver:	n/a	chr20:26247689-26247702 chr20:26247689-26247702 chr20:26247689-26247700 chr20:26247690-26247701 chr20:26247689-26247700 chr20:26247603-26247620
7	CEBPB	chr20:26230907-26231197	HepG2	liver:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
8	CEBPB	chr20:26230905-26231255	A549	lung:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
9	CEBPB	chr20:26210951-26211274	HepG2	liver:	n/a	chr20:26211124-26211135
10	CEBPB	chr20:26230967-26231246	IMR90	lung:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
11	CEBPB	chr20:26230886-26231251	HepG2	liver:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
12	CEBPB	chr20:26230986-26231176	K562	blood:	n/a	chr20:26231070-26231079 chr20:26231070-26231079 chr20:26231068-26231081 chr20:26231068-26231079 chr20:26231070-26231079 chr20:26231070-26231079
13	CEBPB	chr20:26247584-26247739	A549	lung:	n/a	chr20:26247689-26247702 chr20:26247689-26247702 chr20:26247689-26247700 chr20:26247690-26247701 chr20:26247689-26247700 chr20:26247603-26247620
14	CEBPB	chr20:26239007-26239021	A549	lung:	n/a	n/a
15	CTCF	chr20:26210980-26211130	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr20:26211201-26211302	A549	lung:	n/a	n/a
17	CTCF	chr20:26237840-26237990	HepG2	liver:	n/a	n/a
18	CTCF	chr20:26210320-26210470	AG10803	skin:	n/a	n/a
19	CTCF	chr20:26211020-26211170	HAc	cerebellar:	n/a	n/a
20	CTCF	chr20:26210340-26210490	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr20:26211020-26211170	AG04449	skin:	n/a	n/a
22	CTCF	chr20:26233029-26233177	Fibrobl	skin:	n/a	n/a
23	CTCF	chr20:26210960-26211110	NHLF	lung:	n/a	n/a
24	CTCF	chr20:26244620-26244770	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr20:26234069-26234106	LNCaP	prostate:	n/a	n/a
26	CTCF	chr20:26210280-26210430	HepG2	liver:	n/a	n/a
27	CTCF	chr20:26232905-26233230	K562	blood:	n/a	n/a
28	CTCF	chr20:26210280-26210430	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr20:26234091-26234141	A549	lung:	n/a	n/a
30	CTCF	chr20:26213320-26213470	AG09309	skin:	n/a	n/a
31	CTCF	chr20:26233012-26233153	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:26233020-26233170	HepG2	liver:	n/a	n/a
33	CTCF	chr20:26234060-26234210	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr20:26211080-26211230	Caco-2	colon:	n/a	n/a
35	CTCF	chr20:26233020-26233170	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr20:26213040-26213190	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr20:26210960-26211110	AG10803	skin:	n/a	n/a
38	CTCF	chr20:26210300-26210450	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr20:26210340-26210490	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr20:26243139-26243165	GM10248	blood:	n/a	n/a
41	CTCF	chr20:26211020-26211170	AG10803	skin:	n/a	n/a
42	CTCF	chr20:26211060-26211210	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr20:26210300-26210450	HCT-116	colon:	n/a	n/a
44	CTCF	chr20:26234099-26234134	MCF-7	breast:	n/a	n/a
45	CTCF	chr20:26210340-26210490	AG09319	gingival:	n/a	n/a
46	CTCF	chr20:26212300-26212450	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr20:26211219-26211228	ProgFib	skin:	n/a	n/a
48	CTCF	chr20:26212300-26212450	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr20:26210980-26211130	HCM	heart:	n/a	n/a
50	CTCF	chr20:26211060-26211210	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:26208095..26209894-chr3:75988198..75990401,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-6	chr20:26231899-26232162	ENSG00000227195.4
2	lnc-FAM182B-6	chr20:26231899-26232141	ENSG00000227195.4
3	lnc-FAM182B-6	chr20:26231899-26232102	ENSG00000227195.4

Variant related genes	Relation type
MIR663A	TF binding region

Extended variants
information (count: 778 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:778 , 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	rs73356220	chr20:26209744-26209745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528158726	chr20:26209747-26209748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73356222	chr20:26209761-26209762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551427967	chr20:26209769-26209770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570961978	chr20:26209776-26209777	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77633355	chr20:26209791-26209792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs79259241	chr20:26209794-26209795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74566655	chr20:26209798-26209799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74575342	chr20:26209808-26209809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539983005	chr20:26209811-26209812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs74320498	chr20:26209820-26209821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201534288	chr20:26209829-26209830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115434579	chr20:26209831-26209832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72493633	chr20:26209835-26209836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78056230	chr20:26209844-26209845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201458144	chr20:26209849-26209850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73356224	chr20:26209850-26209851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs73356227	chr20:26209877-26209878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375460104	chr20:26209880-26209881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535487996	chr20:26209881-26209882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375654396	chr20:26209894-26209895	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368428778	chr20:26209898-26209899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555327908	chr20:26209900-26209901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572072063	chr20:26209931-26209932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73356228	chr20:26209943-26209944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534826243	chr20:26209967-26209968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62198239	chr20:26209974-26209975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62198240	chr20:26209977-26209978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs137959845	chr20:26209980-26209981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369243981	chr20:26209982-26209983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372008557	chr20:26209983-26209984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2971730	chr20:26210030-26210031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201739389	chr20:26210054-26210055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558184005	chr20:26210057-26210058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577768836	chr20:26210062-26210063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543593847	chr20:26210074-26210075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78867987	chr20:26210075-26210076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113620895	chr20:26210080-26210081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73904511	chr20:26210086-26210087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188075440	chr20:26210108-26210109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73904512	chr20:26210127-26210128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573960916	chr20:26210142-26210143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112514100	chr20:26210159-26210160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs6051235	chr20:26210169-26210170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111294069	chr20:26210188-26210189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75289767	chr20:26210213-26210214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542678015	chr20:26210219-26210220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71237715	chr20:26210253-26210254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62198241	chr20:26210254-26210255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs559413605	chr20:26210259-26210260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26200200-26214200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr20:26201800-26213400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr20:26207600-26214200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr20:26208600-26210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:26210000-26212000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:26210400-26212000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr20:26210800-26211400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:26211000-26211400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:26211200-26211400	Enhancers	Pancreas	Pancrea
10	chr20:26211400-26212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:26212800-26213000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:26213400-26214000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:26231400-26232000	Active TSS	K562	blood
14	chr20:26231800-26232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:26232400-26236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:26233000-26233800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr20:26233200-26234200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr20:26233400-26233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:26233400-26233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr20:26233600-26234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr20:26233600-26234000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr20:26236000-26236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:26241600-26242000	Enhancers	Dnd41	blood
24	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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