Variant report

Variant	esv13340
Chromosome Location	chr5:92919794-92920972
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	chr5:92920090-92920501	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr5:92920103-92920345	A549	lung:	n/a	n/a
3	CEBPB	chr5:92920110-92920435	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:92920043-92920495	A549	lung:	n/a	n/a
5	CEBPB	chr5:92920076-92920429	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr5:92919928-92920415	HepG2	liver:	n/a	n/a
7	CHD1	chr5:92919424-92920196	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386
9	CHD2	chr5:92920232-92920241	HepG2	liver:	n/a	n/a
10	CHD2	chr5:92920909-92921022	HepG2	liver:	n/a	n/a
11	CHD2	chr5:92920251-92920435	Hela-S3	cervix:	n/a	chr5:92920384-92920394 chr5:92920376-92920386
12	CHD2	chr5:92920668-92922079	Hela-S3	cervix:	n/a	chr5:92920697-92920707
13	CREB1	chr5:92919833-92920288	A549	lung:	n/a	n/a
14	CTBP2	chr5:92919429-92921750	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:92920767-92920806	LNCaP	prostate:	n/a	n/a
16	CTCF	chr5:92920360-92920510	AG04449	skin:	n/a	n/a
17	CTCF	chr5:92920215-92920233	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:92919980-92920130	AG04449	skin:	n/a	n/a
19	E2F4	chr5:92920204-92920264	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F6	chr5:92920824-92921360	A549	lung:	n/a	n/a
21	EGR1	chr5:92919941-92920110	K562	blood:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
22	EGR1	chr5:92919553-92920272	H1-hESC	embryonic stem cell:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
23	EGR1	chr5:92919941-92920094	GM12878	blood:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
24	ELK1	chr5:92920956-92921208	Hela-S3	cervix:	n/a	n/a
25	FOXP2	chr5:92919610-92919853	PFSK-1	brain:	n/a	n/a
26	FOXP2	chr5:92920018-92920246	PFSK-1	brain:	n/a	n/a
27	GABPA	chr5:92919848-92920158	H1-hESC	embryonic stem cell:	n/a	n/a
28	HA-E2F1	chr5:92919602-92921113	Hela-S3	cervix:	n/a	chr5:92920377-92920386 chr5:92919784-92919794 chr5:92920428-92920438
29	HDAC2	chr5:92920029-92920343	HepG2	liver:	n/a	chr5:92920284-92920298
30	HEY1	chr5:92919477-92920360	HepG2	liver:	n/a	chr5:92919632-92919647
31	HEY1	chr5:92919557-92920260	HepG2	liver:	n/a	chr5:92919632-92919647
32	JUND	chr5:92920035-92920373	A549	lung:	n/a	chr5:92920352-92920361
33	MAX	chr5:92920712-92921468	A549	lung:	n/a	n/a
34	MAX	chr5:92920694-92922174	Hela-S3	cervix:	n/a	n/a
35	MAX	chr5:92919472-92920408	Hela-S3	cervix:	n/a	n/a
36	MAX	chr5:92920902-92921334	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:92920771-92921361	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr5:92920873-92921298	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr5:92920847-92921395	A549	lung:	n/a	n/a
40	MAX	chr5:92919425-92920411	A549	lung:	n/a	n/a
41	MAX	chr5:92919552-92920419	HepG2	liver:	n/a	n/a
42	MAZ	chr5:92920062-92920138	K562	blood:	n/a	n/a
43	MAZ	chr5:92920075-92920340	HepG2	liver:	n/a	n/a
44	MAZ	chr5:92919538-92921594	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr5:92918142-92920671	IMR90	lung:	n/a	chr5:92918679-92918689 chr5:92918682-92918692 chr5:92918653-92918663 chr5:92918596-92918606
46	MXI1	chr5:92920150-92920332	Hela-S3	cervix:	n/a	n/a
47	MXI1	chr5:92919483-92920525	IMR90	lung:	n/a	n/a
48	MXI1	chr5:92920860-92921290	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr5:92920845-92921297	HepG2	liver:	n/a	n/a
50	MXI1	chr5:92919994-92920295	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92920498-92920548	HRPEpiC	eye:	n/a
2	chr5:92920498-92920548	HCT-116	colon:	n/a
3	chr5:92920498-92920548	PANC-1	pancreas:	n/a
4	chr5:92920256-92920306	HCT-116	colon:	n/a
5	chr5:92920498-92920548	HL-60	blood:	n/a
6	chr5:92920256-92920306	GM12891	blood:	n/a
7	chr5:92920256-92920306	BJ	skin:	n/a
8	chr5:92920498-92920548	NH-A	brain:	n/a
9	chr5:92920496-92920546	HRE	kidney:	n/a
10	chr5:92920496-92920546	ProgFib	skin:	n/a
11	chr5:92920498-92920548	ProgFib	skin:	n/a
12	chr5:92920498-92920548	NB4	blood:	n/a
13	chr5:92920496-92920546	SAEC	small airway:	n/a
14	chr5:92920256-92920306	HRCEpiC	kidney:	n/a
15	chr5:92920498-92920548	A549	lung:	n/a
16	chr5:92920496-92920546	GM12878	blood:	n/a
17	chr5:92920498-92920548	HCF	heart:	n/a
18	chr5:92920496-92920546	H1-hESC	embryonic stem cell:	embryo
19	chr5:92920256-92920306	PFSK-1	brain:	n/a
20	chr5:92920496-92920546	HRPEpiC	eye:	n/a
21	chr5:92920256-92920306	U87	brain:	n/a
22	chr5:92920496-92920546	AG09309	skin:	n/a
23	chr5:92920498-92920548	HMEC	breast:	n/a
24	chr5:92920496-92920546	Caco-2	colon:	n/a
25	chr5:92920256-92920306	T-47D	breast:	n/a
26	chr5:92920498-92920548	GM12878	blood:	n/a
27	chr5:92920496-92920546	HEEpiC	esophagus:	n/a
28	chr5:92920496-92920546	T-47D	breast:	n/a
29	chr5:92920256-92920306	K562	blood:	n/a
30	chr5:92920498-92920548	SK-N-SH_RA	brain:	n/a
31	chr5:92920498-92920548	HRCEpiC	kidney:	n/a
32	chr5:92920496-92920546	LNCaP	prostate:	n/a
33	chr5:92920498-92920548	U87	brain:	n/a
34	chr5:92920496-92920546	GM06990	blood:	n/a
35	chr5:92920256-92920306	Hela-S3	cervix:	n/a
36	chr5:92920498-92920548	BE2_C	brain:	n/a
37	chr5:92920256-92920306	HMEC	breast:	n/a
38	chr5:92920496-92920546	NHDF-neo	bronchial:	n/a
39	chr5:92920498-92920548	Jurkat	blood:	n/a
40	chr5:92920496-92920546	AG10803	skin:	n/a
41	chr5:92920256-92920306	HCPEpiC	choroid plexus:	n/a
42	chr5:92920496-92920546	PFSK-1	brain:	n/a
43	chr5:92920498-92920548	HUVEC	blood vessel:	n/a
44	chr5:92920256-92920306	NB4	blood:	n/a
45	chr5:92920498-92920548	PrEC	prostate:	n/a
46	chr5:92920496-92920546	PANC-1	pancreas:	n/a
47	chr5:92920256-92920306	HEK293	kidney:	embryo
48	chr5:92920256-92920306	PrEC	prostate:	n/a
49	chr5:92920496-92920546	ovcar-3	ovarian:	n/a
50	chr5:92920496-92920546	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:92918392..92920422-chr5:92954459..92956574,2	MCF-7	breast:
2	chr5:92919342..92920132-chr9:33025119..33025739,2	HCT-116	colon:
3	chr5:92914959..92917781-chr5:92918156..92922060,3	MCF-7	breast:

Variant related genes	Relation type
NR2F1	TF binding region
NR2F1-AS1	TF binding region
NR2F1	CpG island
NR2F1-AS1	CpG island
ENSG00000237187	chromatin interactions
ENSG00000251725	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000086061	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150676233	chr5:92919822-92919823	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs535737228	chr5:92919962-92919963	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs376986918	chr5:92920115-92920116	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs200733265	chr5:92920124-92920125	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs549312192	chr5:92920238-92920239	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569061409	chr5:92920282-92920283	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369434754	chr5:92920408-92920409	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs372818347	chr5:92920697-92920698	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs557800691	chr5:92920891-92920892	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs577687465	chr5:92920920-92920921	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs201452963	chr5:92920922-92920923	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs199844882	chr5:92920966-92920967	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92913800-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92914000-92919800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr5:92914000-92919800	Active TSS	Fetal Kidney	kidney
4	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
5	chr5:92914200-92919800	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr5:92914200-92921600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
8	chr5:92914400-92922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:92914400-92922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:92914600-92919800	Active TSS	NHDF-Ad	bronchial
11	chr5:92914600-92924600	Active TSS	HSMM	muscle
12	chr5:92914600-92924800	Active TSS	Right Atrium	heart
13	chr5:92914800-92920800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:92914800-92921800	Active TSS	Psoas Muscle	Psoas
15	chr5:92914800-92921800	Active TSS	Osteobl	bone
16	chr5:92914800-92923200	Active TSS	Ovary	ovary
17	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:92915000-92921600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr5:92915000-92922200	Active TSS	HSMMtube	muscle
20	chr5:92915200-92921000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:92915200-92921000	Active TSS	NHLF	lung
22	chr5:92915200-92921600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:92915200-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:92915200-92923600	Active TSS	NH-A	brain
25	chr5:92916200-92921600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:92916400-92923200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:92916400-92923400	Active TSS	Stomach Smooth Muscle	stomach
29	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
30	chr5:92916800-92919800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:92916800-92921600	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:92917000-92919800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:92917000-92920800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:92917000-92921000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:92917000-92921400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:92917200-92919800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr5:92917200-92919800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:92917200-92920000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr5:92917200-92921000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:92917800-92919800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr5:92918000-92921600	Bivalent/Poised TSS	NHEK	skin
42	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:92918200-92919800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr5:92918400-92919800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr5:92918400-92919800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr5:92918400-92919800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:92918400-92919800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
48	chr5:92918400-92919800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr5:92918400-92921800	Active TSS	A549	lung
50	chr5:92918400-92922600	Active TSS	Hela-S3	cervix

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