Variant report

Variant	nsv1066105
Chromosome Location	chr20:14201909-14272115
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	BATF	chr20:14213355-14213690	GM12878	blood:	n/a	n/a
2	BATF	chr20:14213283-14213671	GM12878	blood:	n/a	n/a
3	BHLHE40	chr20:14213326-14213653	GM12878	blood:	n/a	n/a
4	BRCA1	chr20:14245586-14245671	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr20:14215229-14215777	A549	lung:	n/a	n/a
6	CEBPB	chr20:14260913-14261245	IMR90	lung:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
7	CEBPB	chr20:14269620-14269888	IMR90	lung:	n/a	n/a
8	CEBPB	chr20:14221682-14221789	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr20:14228633-14228706	HepG2	liver:	n/a	chr20:14228671-14228682
10	CEBPB	chr20:14226048-14226432	IMR90	lung:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
11	CEBPB	chr20:14226059-14226423	HepG2	liver:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
12	CEBPB	chr20:14261036-14261171	H1-hESC	embryonic stem cell:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
13	CEBPB	chr20:14216033-14216383	A549	lung:	n/a	n/a
14	CEBPB	chr20:14215334-14215682	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr20:14269685-14269839	A549	lung:	n/a	n/a
16	CEBPB	chr20:14216006-14216480	IMR90	lung:	n/a	n/a
17	CEBPB	chr20:14265246-14265469	HepG2	liver:	n/a	chr20:14265328-14265341 chr20:14265328-14265341 chr20:14265328-14265339 chr20:14265330-14265341
18	CEBPB	chr20:14260937-14261232	A549	lung:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
19	CEBPB	chr20:14215339-14215664	A549	lung:	n/a	n/a
20	CEBPB	chr20:14216017-14216508	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr20:14226064-14226419	A549	lung:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
22	CEBPB	chr20:14226075-14226412	Hela-S3	cervix:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
23	CEBPB	chr20:14265192-14265481	Hela-S3	cervix:	n/a	chr20:14265328-14265341 chr20:14265328-14265341 chr20:14265328-14265339 chr20:14265330-14265341
24	CEBPB	chr20:14226125-14226338	H1-hESC	embryonic stem cell:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
25	CEBPB	chr20:14215347-14215636	A549	lung:	n/a	n/a
26	CEBPB	chr20:14215321-14215673	IMR90	lung:	n/a	n/a
27	CEBPB	chr20:14260900-14261263	HepG2	liver:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
28	CEBPB	chr20:14269670-14269797	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:14215378-14215643	MCF-7	breast:	n/a	n/a
30	CTCF	chr20:14245606-14245773	Fibrobl	skin:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
31	CTCF	chr20:14245640-14245790	BE2_C	brain:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
32	CTCF	chr20:14245660-14245810	AG04450	lung:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
33	CTCF	chr20:14245520-14245670	HepG2	liver:	n/a	n/a
34	CTCF	chr20:14245640-14245790	NHDF-neo	bronchial:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
35	CTCF	chr20:14245626-14245812	GM12878	blood:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
36	CTCF	chr20:14245600-14245750	HCM	heart:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
37	CTCF	chr20:14245640-14245790	Caco-2	colon:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
38	CTCF	chr20:14245619-14245831	LNCaP	prostate:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
39	CTCF	chr20:14245640-14245790	HPF	lung:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
40	CTCF	chr20:14267660-14267810	NHEK	skin:	n/a	n/a
41	CTCF	chr20:14245620-14245770	Hela-S3	cervix:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
42	CTCF	chr20:14245660-14245810	GM12878	blood:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
43	CTCF	chr20:14245662-14245828	LNCaP	prostate:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
44	CTCF	chr20:14245606-14245813	MCF-7	breast:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
45	CTCF	chr20:14245620-14245770	HA-sp	spinal cord:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
46	CTCF	chr20:14245640-14245790	HVMF	connective:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
47	CTCF	chr20:14245573-14245867	GM12878	blood:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
48	CTCF	chr20:14245457-14245870	MCF-7	breast:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
49	CTCF	chr20:14245600-14245750	GM12875	blood:	n/a	chr20:14245707-14245728 chr20:14245712-14245730
50	CTCF	chr20:14245719-14245737	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14170212..14170967-chr20:14245501..14246136,3	MCF-7	breast:
2	chr20:14173827..14175153-chr20:14245201..14246183,6	MCF-7	breast:
3	chr20:14246857..14249567-chr20:14268278..14270770,2	K562	blood:
4	chr20:14246857..14249567-chr20:14268278..14270770,2	K562	blood:
5	chr20:14199868..14203458-chr20:14204053..14207149,3	MCF-7	breast:
6	chr20:14199868..14203458-chr20:14204053..14207149,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-2	chr20:14203687-14203976	NONHSAT078711

Variant related genes	Relation type
RN7SL864P	TF binding region

Extended variants
information (count: 1706 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1706 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575011440	chr20:14201913-14201914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531276352	chr20:14201927-14201928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79230025	chr20:14202012-14202013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147794080	chr20:14202032-14202033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185410614	chr20:14202045-14202046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189892578	chr20:14202068-14202069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532231105	chr20:14202103-14202104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142177199	chr20:14202153-14202154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73264825	chr20:14202181-14202182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559293797	chr20:14202225-14202226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530292187	chr20:14202252-14202253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548501312	chr20:14202286-14202287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532258515	chr20:14202330-14202331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568256963	chr20:14202332-14202333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546849359	chr20:14202363-14202364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551166442	chr20:14202376-14202377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537301424	chr20:14202377-14202378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566576554	chr20:14202491-14202492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550453464	chr20:14202597-14202598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570569381	chr20:14202634-14202635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538308846	chr20:14202676-14202677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75611750	chr20:14202746-14202747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76464488	chr20:14202780-14202781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139511119	chr20:14202837-14202838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367637753	chr20:14202838-14202839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569478426	chr20:14202868-14202869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539502623	chr20:14202888-14202889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372523296	chr20:14202889-14202890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75634694	chr20:14202895-14202896	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376526934	chr20:14202900-14202901	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553023919	chr20:14202910-14202911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs537784026	chr20:14202933-14202934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200632503	chr20:14202952-14202953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536908188	chr20:14202977-14202978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6042594	chr20:14203017-14203018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555283082	chr20:14203095-14203096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6042595	chr20:14203118-14203119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377237877	chr20:14203123-14203124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544005347	chr20:14203124-14203125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6135092	chr20:14203128-14203129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557099449	chr20:14203217-14203218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576946291	chr20:14203220-14203221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545922187	chr20:14203229-14203230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559408437	chr20:14203281-14203282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181591758	chr20:14203305-14203306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368924159	chr20:14203311-14203312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6135093	chr20:14203315-14203316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79825610	chr20:14203360-14203361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551362833	chr20:14203378-14203379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6135094	chr20:14203399-14203400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14200200-14202200	Enhancers	HMEC	breast
2	chr20:14200400-14202400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr20:14200400-14203200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:14200400-14204000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:14200600-14202200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr20:14200600-14205000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:14200800-14206600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr20:14201000-14204600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:14201000-14206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr20:14201200-14202200	Enhancers	Hela-S3	cervix
11	chr20:14201200-14206600	Weak transcription	A549	lung
12	chr20:14201400-14202400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:14201400-14202600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:14201400-14204400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:14201400-14206200	Weak transcription	Fetal Heart	heart
16	chr20:14201600-14202000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr20:14201600-14202200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:14201600-14204600	Weak transcription	NHEK	skin
19	chr20:14201800-14206600	Weak transcription	Fetal Intestine Small	intestine
20	chr20:14201800-14206800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:14201800-14206800	Weak transcription	Fetal Intestine Large	intestine
22	chr20:14202200-14204600	Weak transcription	Hela-S3	cervix
23	chr20:14202200-14206600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr20:14203200-14206800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr20:14204000-14207000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:14204400-14205200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:14204600-14205200	Enhancers	NHEK	skin
28	chr20:14204600-14205600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:14204600-14205800	Enhancers	Hela-S3	cervix
30	chr20:14205000-14205800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr20:14205200-14206200	Weak transcription	NHEK	skin
32	chr20:14205200-14206600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:14205400-14205800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr20:14205600-14206800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:14205800-14206200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr20:14205800-14206800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr20:14206200-14206400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:14206200-14206600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr20:14206200-14206600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr20:14206200-14206600	Enhancers	NHEK	skin
41	chr20:14206200-14207000	Enhancers	Fetal Heart	heart
42	chr20:14206400-14206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:14206400-14206800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr20:14206400-14206800	Enhancers	Brain Angular Gyrus	brain
45	chr20:14206400-14207000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:14206400-14207800	Active TSS	Stomach Smooth Muscle	stomach
47	chr20:14206600-14206800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:14206600-14206800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:14206600-14206800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:14206600-14206800	Enhancers	Brain Anterior Caudate	brain

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