Variant report

Variant	nsv593770
Chromosome Location	chr4:15984033-16001378
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	chr4:15998417-15998610	GM12878	blood:	n/a	n/a
2	BATF	chr4:15998355-15998672	GM12878	blood:	n/a	n/a
3	CEBPB	chr4:15993730-15993749	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr4:15993187-15993225	K562	blood:	n/a	n/a
5	CEBPB	chr4:15993032-15993349	IMR90	lung:	n/a	n/a
6	CEBPB	chr4:15993030-15993380	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:15993146-15993270	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr4:15993094-15993318	A549	lung:	n/a	n/a
9	CEBPB	chr4:15995317-15995398	HepG2	liver:	n/a	chr4:15995370-15995381 chr4:15995368-15995379 chr4:15995368-15995381
10	EBF1	chr4:15998526-15998691	GM12878	blood:	n/a	n/a
11	EP300	chr4:15998452-15998616	GM12878	blood:	n/a	n/a
12	FOS	chr4:15984515-15984809	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr4:15984529-15984832	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:15992651-15992852	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:15992665-15992802	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:15992691-15992811	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:15984517-15984833	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:15984517-15984803	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr4:15989880-15990213	HepG2	liver:	n/a	n/a
20	GATA3	chr4:15999430-15999801	MCF-7	breast:	n/a	n/a
21	MAFF	chr4:15995260-15995341	HepG2	liver:	n/a	chr4:15995306-15995324
22	MAFK	chr4:15995204-15995348	IMR90	lung:	n/a	chr4:15995312-15995323 chr4:15995312-15995323 chr4:15995307-15995322
23	MAFK	chr4:15995256-15995359	HepG2	liver:	n/a	chr4:15995312-15995323 chr4:15995312-15995323 chr4:15995307-15995322
24	MAFK	chr4:15995298-15995329	HepG2	liver:	n/a	chr4:15995312-15995323 chr4:15995312-15995323 chr4:15995307-15995322
25	MYC	chr4:15989896-15989932	NB4	blood:	n/a	n/a
26	MYC	chr4:15984633-15984651	MCF10A-Er-Src	breast:	n/a	n/a
27	NFYB	chr4:15988601-15988990	GM12878	blood:	n/a	chr4:15988749-15988764
28	NFYB	chr4:15988580-15988936	K562	blood:	n/a	chr4:15988749-15988764
29	NFYB	chr4:15988626-15988898	Hela-S3	cervix:	n/a	chr4:15988749-15988764
30	POLR2A	chr4:15994816-15994874	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:15992091-15992941	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr4:15999092-15999217	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:15984584-15984650	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:15993518-15993780	HL-60	blood:	n/a	n/a
35	STAT3	chr4:15998397-15998625	GM12878	blood:	n/a	chr4:15998476-15998488
36	STAT3	chr4:15997562-15997723	MCF10A-Er-Src	breast:	n/a	n/a
37	TBL1XR1	chr4:15990105-15990114	K562	blood:	n/a	n/a
38	USF1	chr4:15988531-15988852	ECC-1	luminal epithelium:	n/a	n/a
39	USF1	chr4:15988550-15988824	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr4:15988665-15988858	HCT-116	colon:	n/a	n/a
41	USF1	chr4:15988566-15988905	H1-hESC	embryonic stem cell:	n/a	n/a
42	USF1	chr4:15988519-15988942	ECC-1	luminal epithelium:	n/a	n/a
43	USF1	chr4:15988573-15988855	SK-N-SH_RA	brain:	n/a	n/a
44	USF1	chr4:15988603-15988896	SK-N-SH_RA	brain:	n/a	n/a
45	USF2	chr4:15988602-15988896	Hela-S3	cervix:	n/a	chr4:15988737-15988748
46	USF2	chr4:15984905-15984958	Hela-S3	cervix:	n/a	chr4:15984936-15984947
47	USF2	chr4:15988771-15988790	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:15982843..15985244-chr4:15992579..15994600,2	K562	blood:
2	chr4:15994705..15996377-chr4:16001916..16003679,2	MCF-7	breast:
3	chr4:15964280..15965054-chr4:15992754..15993439,2	MCF-7	breast:
4	chr4:15479175..15481505-chr4:16000746..16002953,2	MCF-7	breast:
5	chr4:15983233..15985275-chr4:15990629..15992884,2	MCF-7	breast:
6	chr4:15983233..15985275-chr4:15990629..15992884,2	MCF-7	breast:
7	chr4:15990358..15992506-chr4:15994289..15997209,3	K562	blood:
8	chr4:15990358..15992506-chr4:15994289..15997209,3	K562	blood:
9	chr4:15982843..15985244-chr4:15992579..15994600,2	K562	blood:
10	chr4:15964301..15965261-chr4:15992696..15993219,2	MCF-7	breast:
11	chr4:15986153..15988625-chr4:15990969..15992958,2	MCF-7	breast:
12	chr4:15992375..15993229-chr4:16010127..16010937,2	MCF-7	breast:
13	chr4:15964080..15965226-chr4:15999080..16000147,3	MCF-7	breast:
14	chr4:15989164..15991988-chr7:91873998..91876151,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFBP2-2	chr4:15987134-15987274	NONHSAT095654
2	lnc-FGFBP2-2	chr4:15987383-15987451	NONHSAT095654
3	lnc-FGFBP2-2	chr4:15987580-15987660	NONHSAT095654

Variant related genes	Relation type
PROM1	TF binding region
ENSG00000001629	chromatin interactions
ENSG00000251758	chromatin interactions
ENSG00000137441	chromatin interactions
ENSG00000048342	chromatin interactions
ENSG00000001631	chromatin interactions
ENSG00000007062	chromatin interactions

Extended variants
information (count: 800 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:800 , 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	rs3796856	chr4:15984033-15984034	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534371361	chr4:15984063-15984064	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547943169	chr4:15984085-15984086	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371469580	chr4:15984088-15984089	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567264842	chr4:15984095-15984096	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536298060	chr4:15984098-15984099	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3796855	chr4:15984152-15984153	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144673446	chr4:15984175-15984176	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138613385	chr4:15984275-15984276	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558406530	chr4:15984310-15984311	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571978307	chr4:15984319-15984320	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141517446	chr4:15984328-15984329	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563745349	chr4:15984362-15984363	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532811525	chr4:15984374-15984375	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554711855	chr4:15984377-15984378	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3796854	chr4:15984381-15984382	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543106254	chr4:15984427-15984428	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540556857	chr4:15984431-15984432	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369626366	chr4:15984458-15984459	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112421998	chr4:15984471-15984472	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567225749	chr4:15984472-15984473	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371629614	chr4:15984488-15984489	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7698060	chr4:15984572-15984573	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181887973	chr4:15984588-15984589	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527955082	chr4:15984691-15984692	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547676555	chr4:15984696-15984697	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373121818	chr4:15984720-15984721	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7436886	chr4:15984751-15984752	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567844527	chr4:15984777-15984778	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529791290	chr4:15984789-15984790	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201110207	chr4:15984817-15984818	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549830431	chr4:15984819-15984820	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184845622	chr4:15984876-15984877	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375382732	chr4:15984877-15984878	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571223214	chr4:15984879-15984880	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558093295	chr4:15984881-15984882	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146173516	chr4:15984898-15984899	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534874443	chr4:15984926-15984927	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527325105	chr4:15984975-15984976	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137906141	chr4:15984980-15984981	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574567575	chr4:15984988-15984989	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189976776	chr4:15984997-15984998	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs66493926	chr4:15985011-15985012	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398063311	chr4:15985013-15985014	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10488967	chr4:15985053-15985054	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576578272	chr4:15985073-15985074	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545435487	chr4:15985193-15985194	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565239897	chr4:15985204-15985205	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149419427	chr4:15985208-15985209	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576005730	chr4:15985240-15985241	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15964600-16031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:15968000-16002600	Weak transcription	Left Ventricle	heart
3	chr4:15968600-15993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:15968800-15992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:15969600-15990000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:15969600-16011600	Weak transcription	Fetal Lung	lung
7	chr4:15969800-15986200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:15971000-15992200	Weak transcription	Fetal Brain Male	brain
9	chr4:15971000-16008000	Weak transcription	Aorta	Aorta
10	chr4:15973200-15993800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:15974000-15991800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:15976400-15985800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:15976600-15984400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:15976800-16002600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:15977000-16007400	Weak transcription	Gastric	stomach
16	chr4:15978000-15996800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:15978200-16003200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:15978600-15984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:15978800-15984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:15978800-16002800	Weak transcription	Right Ventricle	heart
21	chr4:15979400-16000400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:15979600-15996600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr4:15979600-15998800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:15982000-15988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:15982200-16008200	Weak transcription	Brain Germinal Matrix	brain
26	chr4:15982400-15988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:15982600-15989400	Strong transcription	Fetal Stomach	stomach
28	chr4:15982600-15994400	Weak transcription	Fetal Intestine Large	intestine
29	chr4:15982800-16000200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:15983000-15984400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:15983200-15984600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:15983200-15984600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:15983200-15992800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:15983200-15993000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:15983200-16000000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:15983400-15985000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:15983400-15985800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:15983400-15987800	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr4:15983400-15999800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:15983600-15984400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:15983600-15984800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:15983600-15985400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:15983600-15985600	Strong transcription	Pancreas	Pancrea
44	chr4:15983600-15988800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr4:15983600-15992800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:15983600-15992800	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:15983800-15984800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:15984000-15985200	Strong transcription	Colonic Mucosa	Colon
49	chr4:15984200-15984400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:15984200-15985000	Enhancers	Placenta Amnion	Placenta Amnion

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