Variant report

Variant	esv2751909
Chromosome Location	chr20:15489871-15656007
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	ATF2	chr20:15608151-15608548	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr20:15542293-15542732	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr20:15591344-15591733	GM12878	blood:	n/a	chr20:15591587-15591597
4	BATF	chr20:15591435-15591628	GM12878	blood:	n/a	chr20:15591587-15591597
5	BHLHE40	chr20:15549707-15549722	GM12878	blood:	n/a	n/a
6	CEBPB	chr20:15533033-15533037	HepG2	liver:	n/a	n/a
7	CEBPB	chr20:15522231-15522531	HepG2	liver:	n/a	chr20:15522367-15522378 chr20:15522369-15522380
8	CEBPB	chr20:15595127-15595350	IMR90	lung:	n/a	n/a
9	CEBPB	chr20:15603128-15603405	Hela-S3	cervix:	n/a	chr20:15603243-15603254
10	CEBPB	chr20:15492111-15492422	HepG2	liver:	n/a	chr20:15492294-15492305
11	CEBPB	chr20:15603124-15603375	HepG2	liver:	n/a	chr20:15603243-15603254
12	CEBPB	chr20:15630115-15630449	IMR90	lung:	n/a	n/a
13	CEBPB	chr20:15653809-15654168	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:15636051-15636403	IMR90	lung:	n/a	n/a
15	CEBPB	chr20:15653820-15654164	IMR90	lung:	n/a	n/a
16	CEBPB	chr20:15578035-15578342	A549	lung:	n/a	chr20:15578195-15578206
17	CEBPB	chr20:15645575-15645785	HepG2	liver:	n/a	chr20:15645660-15645671 chr20:15645662-15645673 chr20:15645660-15645673
18	CEBPB	chr20:15492121-15492404	A549	lung:	n/a	chr20:15492294-15492305
19	CEBPB	chr20:15595079-15595398	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:15498530-15498605	HepG2	liver:	n/a	chr20:15498555-15498568 chr20:15498555-15498566
21	CEBPB	chr20:15636121-15636389	A549	lung:	n/a	n/a
22	CEBPB	chr20:15603132-15603406	A549	lung:	n/a	chr20:15603243-15603254
23	CEBPB	chr20:15608319-15608492	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr20:15578056-15578319	HepG2	liver:	n/a	chr20:15578195-15578206
25	CEBPB	chr20:15541761-15541986	HepG2	liver:	n/a	chr20:15541902-15541913 chr20:15541902-15541913 chr20:15541902-15541915 chr20:15541903-15541914 chr20:15541902-15541915
26	CEBPB	chr20:15505525-15505784	HepG2	liver:	n/a	chr20:15505677-15505688
27	CEBPB	chr20:15520793-15520967	HepG2	liver:	n/a	chr20:15520860-15520871 chr20:15520860-15520873 chr20:15520921-15520934
28	CEBPB	chr20:15585363-15585651	A549	lung:	n/a	chr20:15585492-15585503
29	CEBPB	chr20:15578020-15578384	Hela-S3	cervix:	n/a	chr20:15578195-15578206
30	CEBPB	chr20:15585337-15585665	HepG2	liver:	n/a	chr20:15585492-15585503
31	CEBPB	chr20:15636143-15636367	HepG2	liver:	n/a	n/a
32	CHD2	chr20:15608264-15608683	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr20:15545627-15546075	GM12878	blood:	n/a	n/a
34	CTCF	chr20:15624440-15624590	Caco-2	colon:	n/a	n/a
35	CTCF	chr20:15624440-15624590	GM12867	blood:	n/a	n/a
36	CTCF	chr20:15624460-15624610	GM12867	blood:	n/a	n/a
37	CTCF	chr20:15624500-15624650	A549	lung:	n/a	n/a
38	CTCF	chr20:15634880-15635030	AG09319	gingival:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
39	CTCF	chr20:15624500-15624650	GM12864	blood:	n/a	n/a
40	CTCF	chr20:15624460-15624610	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr20:15634807-15635112	K562	blood:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
42	CTCF	chr20:15634779-15635169	HepG2	liver:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
43	CTCF	chr20:15634866-15635103	GM19240	blood:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
44	CTCF	chr20:15634920-15635070	WI-38	lung:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
45	CTCF	chr20:15634846-15635104	Gliobla	brain:	n/a	chr20:15634966-15634982 chr20:15634960-15634981 chr20:15634965-15634983
46	CTCF	chr20:15634800-15634950	HFF	foreskin:	n/a	n/a
47	CTCF	chr20:15565200-15565350	HEK293	kidney:	n/a	n/a
48	CTCF	chr20:15624500-15624650	NB4	blood:	n/a	n/a
49	CTCF	chr20:15624507-15624624	Fibrobl	skin:	n/a	n/a
50	CTCF	chr20:15624510-15624600	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:15577235..15578866-chr20:15581855..15584258,2	MCF-7	breast:
2	chr20:15471920..15472855-chr20:15634516..15635330,3	MCF-7	breast:
3	chr20:15577235..15578866-chr20:15581855..15584258,2	MCF-7	breast:
4	chr20:15653294..15655712-chr20:15657720..15659720,2	MCF-7	breast:
5	chr20:15599954..15602319-chr20:15602670..15605325,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF16B-4	chr20:15532802-15533046	ENSG00000225181.1
2	lnc-KIF16B-4	chr20:15533257-15533530	ENSG00000225181.1

Variant related genes	Relation type
ENSG00000225181	TF binding region
ENSAP1	TF binding region
ENSG00000212111	TF binding region
ENSG00000224274	chromatin interactions

Extended variants
information (count: 5512 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:5512 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6043336	chr20:15489871-15489872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186855802	chr20:15489881-15489882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536819730	chr20:15489895-15489896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192329015	chr20:15489929-15489930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567167021	chr20:15489974-15489975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535325149	chr20:15489982-15489983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377320987	chr20:15489997-15489998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184337867	chr20:15490024-15490025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553197338	chr20:15490039-15490040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577930032	chr20:15490137-15490138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370687448	chr20:15490154-15490155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62193939	chr20:15490156-15490157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs988415	chr20:15490207-15490208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575986573	chr20:15490226-15490227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370899038	chr20:15490298-15490299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543375577	chr20:15490323-15490324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561455812	chr20:15490450-15490451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375114392	chr20:15490526-15490527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140084707	chr20:15490543-15490544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141446471	chr20:15490546-15490547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559189928	chr20:15490548-15490549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62193940	chr20:15490556-15490557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551110373	chr20:15490664-15490665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557463065	chr20:15490665-15490666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563322561	chr20:15490690-15490691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574174140	chr20:15490712-15490713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548915418	chr20:15490726-15490727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1233763	chr20:15490760-15490761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6043337	chr20:15490920-15490921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150784356	chr20:15490923-15490924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116576250	chr20:15490926-15490927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34307829	chr20:15491011-15491012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543291963	chr20:15491020-15491021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139142418	chr20:15491037-15491038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188838087	chr20:15491043-15491044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149966498	chr20:15491074-15491075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145072596	chr20:15491075-15491076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542787812	chr20:15491085-15491086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78164126	chr20:15491194-15491195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536940592	chr20:15491271-15491272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193235265	chr20:15491313-15491314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185271303	chr20:15491326-15491327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12329509	chr20:15491363-15491364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559369451	chr20:15491367-15491368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189051413	chr20:15491377-15491378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6043338	chr20:15491394-15491395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553120835	chr20:15491424-15491425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572997899	chr20:15491437-15491438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116448805	chr20:15491449-15491450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181400408	chr20:15491457-15491458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15488600-15494000	Weak transcription	Fetal Brain Male	brain
2	chr20:15489200-15490400	Enhancers	Stomach Smooth Muscle	stomach
3	chr20:15490000-15491000	Enhancers	Colon Smooth Muscle	Colon
4	chr20:15490800-15491600	Enhancers	Brain Substantia Nigra	brain
5	chr20:15491000-15491400	Enhancers	Fetal Kidney	kidney
6	chr20:15491400-15492800	Weak transcription	Fetal Kidney	kidney
7	chr20:15492000-15492800	Enhancers	Placenta	Placenta
8	chr20:15492800-15493600	Enhancers	Fetal Kidney	kidney
9	chr20:15493200-15493600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:15493200-15493800	Enhancers	Fetal Stomach	stomach
11	chr20:15493600-15494000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:15494000-15494200	Enhancers	Fetal Brain Male	brain
13	chr20:15494200-15496000	Weak transcription	Fetal Brain Male	brain
14	chr20:15495800-15496600	Enhancers	Ovary	ovary
15	chr20:15496000-15496400	Enhancers	Fetal Brain Male	brain
16	chr20:15496000-15496600	Enhancers	Brain Hippocampus Middle	brain
17	chr20:15496200-15496800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:15496200-15497000	Enhancers	Fetal Heart	heart
19	chr20:15496400-15496600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr20:15496400-15496800	Enhancers	Fetal Brain Female	brain
21	chr20:15496400-15502200	Weak transcription	Fetal Brain Male	brain
22	chr20:15496800-15497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:15497800-15499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr20:15498400-15498600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:15498400-15498800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:15499400-15504000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:15501400-15501600	Enhancers	Fetal Stomach	stomach
28	chr20:15501600-15502400	Enhancers	Rectal Smooth Muscle	rectum
29	chr20:15502200-15504600	Enhancers	Fetal Brain Male	brain
30	chr20:15502800-15503000	Enhancers	Fetal Stomach	stomach
31	chr20:15502800-15503000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr20:15503600-15504600	Enhancers	Brain Hippocampus Middle	brain
33	chr20:15504000-15504400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:15504000-15504400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr20:15504000-15504600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:15504600-15505000	Enhancers	Fetal Muscle Leg	muscle
37	chr20:15509000-15509400	Enhancers	Ovary	ovary
38	chr20:15509000-15509800	Enhancers	Placenta	Placenta
39	chr20:15509000-15510000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr20:15509200-15509800	Enhancers	GM12878-XiMat	blood
41	chr20:15514200-15516000	Enhancers	Fetal Brain Male	brain
42	chr20:15515200-15516000	Enhancers	Brain Angular Gyrus	brain
43	chr20:15516600-15517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr20:15516800-15517200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:15517200-15518600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:15518600-15520000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr20:15522400-15524800	Weak transcription	Gastric	stomach
48	chr20:15524600-15524800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:15524600-15525400	Enhancers	Placenta	Placenta
50	chr20:15525000-15526400	Enhancers	Fetal Kidney	kidney

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