Variant report

Variant	esv1795456
Chromosome Location	chr4:76521217-76545465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:76523480-76523909	K562	blood:	n/a	n/a
2	BACH1	chr4:76523703-76523984	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr4:76531035-76531112	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:76523624-76523965	K562	blood:	n/a	n/a
5	CEBPB	chr4:76523638-76523958	IMR90	lung:	n/a	n/a
6	CEBPB	chr4:76523619-76524018	K562	blood:	n/a	n/a
7	CTCF	chr4:76527452-76527492	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr4:76527377-76527430	GM10266	blood:	n/a	n/a
9	CTCF	chr4:76522205-76522217	ProgFib	skin:	n/a	n/a
10	E2F4	chr4:76523370-76523658	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr4:76523639-76523977	K562	blood:	n/a	n/a
12	FAM48A	chr4:76539795-76539984	GM12878	blood:	n/a	n/a
13	FOS	chr4:76523642-76523955	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:76523651-76523955	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:76523642-76523986	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:76523657-76523985	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr4:76523649-76524081	SK-N-SH	brain:	n/a	n/a
18	FOXA1	chr4:76531155-76531342	T-47D	breast:	n/a	n/a
19	FOXA1	chr4:76531143-76531433	T-47D	breast:	n/a	n/a
20	GATA2	chr4:76532360-76532733	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr4:76532332-76532734	SH-SY5Y	brain:	n/a	n/a
22	IRF1	chr4:76523637-76523966	K562	blood:	n/a	n/a
23	JUN	chr4:76523835-76523859	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr4:76523702-76523985	K562	blood:	n/a	n/a
25	MAFF	chr4:76525035-76525116	HepG2	liver:	n/a	chr4:76525068-76525086
26	MAFF	chr4:76523616-76523998	K562	blood:	n/a	chr4:76523813-76523831
27	MAFF	chr4:76523652-76523958	HepG2	liver:	n/a	chr4:76523813-76523831
28	MAFK	chr4:76523642-76523997	HepG2	liver:	n/a	chr4:76523814-76523829
29	MAFK	chr4:76524951-76525230	HepG2	liver:	n/a	chr4:76525074-76525085 chr4:76525069-76525084 chr4:76525073-76525084
30	MAFK	chr4:76524971-76525236	HepG2	liver:	n/a	chr4:76525074-76525085 chr4:76525069-76525084 chr4:76525073-76525084
31	MAFK	chr4:76523643-76523998	IMR90	lung:	n/a	chr4:76523814-76523829
32	MAFK	chr4:76523616-76523993	HepG2	liver:	n/a	chr4:76523814-76523829
33	MAFK	chr4:76524254-76524360	HepG2	liver:	n/a	n/a
34	MAFK	chr4:76523561-76524354	H1-hESC	embryonic stem cell:	n/a	chr4:76523814-76523829
35	MAFK	chr4:76523698-76523994	Hela-S3	cervix:	n/a	chr4:76523814-76523829
36	MAFK	chr4:76524282-76524311	K562	blood:	n/a	n/a
37	MAFK	chr4:76523626-76524015	K562	blood:	n/a	chr4:76523814-76523829
38	POLR2A	chr4:76523562-76523981	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr4:76535222-76535327	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:76535188-76535338	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:76523898-76523899	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:76520956-76521672	SK-N-MC	brain:	n/a	n/a
43	RFX5	chr4:76524022-76524190	K562	blood:	n/a	n/a
44	RFX5	chr4:76526495-76526544	K562	blood:	n/a	n/a
45	RFX5	chr4:76526836-76526982	K562	blood:	n/a	n/a
46	ZNF384	chr4:76523539-76524026	K562	blood:	n/a	n/a
47	ZNF384	chr4:76523573-76523901	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76521531-76521581	GM19239	blood:	n/a
2	chr4:76521531-76521581	ECC-1	luminal epithelium:	n/a
3	chr4:76521531-76521581	PFSK-1	brain:	n/a
4	chr4:76521531-76521581	AG04450	lung:	fetal
5	chr4:76521531-76521581	ProgFib	skin:	n/a
6	chr4:76521531-76521581	K562	blood:	n/a
7	chr4:76521531-76521581	ovcar-3	ovarian:	n/a
8	chr4:76521531-76521581	AG10803	skin:	n/a
9	chr4:76521531-76521581	GM06990	blood:	n/a
10	chr4:76521531-76521581	NHBE	bronchial:	n/a
11	chr4:76521531-76521581	Jurkat	blood:	n/a
12	chr4:76521531-76521581	PANC-1	pancreas:	n/a
13	chr4:76521531-76521581	HNPCEpiC	eye:	n/a
14	chr4:76521531-76521581	NH-A	brain:	n/a
15	chr4:76521531-76521581	HRE	kidney:	n/a
16	chr4:76521531-76521581	SKMC	muscle:	n/a
17	chr4:76521531-76521581	SK-N-SH	brain:	n/a
18	chr4:76521531-76521581	HepG2	liver:	n/a
19	chr4:76521531-76521581	GM12892	blood:	n/a
20	chr4:76521531-76521581	MCF10A-Er-Src	breast:	n/a
21	chr4:76521531-76521581	SAEC	small airway:	n/a
22	chr4:76521531-76521581	Hepatocyte	liver:	n/a
23	chr4:76521531-76521581	SK-N-MC	brain:	n/a
24	chr4:76521531-76521581	NB4	blood:	n/a
25	chr4:76521531-76521581	HCT-116	colon:	n/a
26	chr4:76521531-76521581	HUVEC	blood vessel:	n/a
27	chr4:76521531-76521581	RPTEC	kidney:	n/a
28	chr4:76521531-76521581	NHDF-neo	bronchial:	n/a
29	chr4:76521531-76521581	T-47D	breast:	n/a
30	chr4:76521531-76521581	HCM	heart:	n/a
31	chr4:76521531-76521581	GM12891	blood:	n/a
32	chr4:76521531-76521581	H1-hESC	embryonic stem cell:	embryo
33	chr4:76521531-76521581	AG04449	skin:	fetal
34	chr4:76521531-76521581	SK-N-SH_RA	brain:	n/a
35	chr4:76521531-76521581	HEK293	kidney:	embryo
36	chr4:76521531-76521581	CMK	blood:	n/a
37	chr4:76521531-76521581	BJ	skin:	n/a
38	chr4:76521531-76521581	GM12878	blood:	n/a
39	chr4:76521531-76521581	Caco-2	colon:	n/a
40	chr4:76521531-76521581	BE2_C	brain:	n/a
41	chr4:76521531-76521581	Hela-S3	cervix:	n/a
42	chr4:76521531-76521581	NT2-D1	testis:	n/a
43	chr4:76521531-76521581	AG09309	skin:	n/a
44	chr4:76521531-76521581	HCF	heart:	n/a
45	chr4:76521531-76521581	PrEC	prostate:	n/a
46	chr4:76521531-76521581	HCPEpiC	choroid plexus:	n/a
47	chr4:76521531-76521581	HL-60	blood:	n/a
48	chr4:76521531-76521581	HIPEpiC	eye:	n/a
49	chr4:76521531-76521581	LNCaP	prostate:	n/a
50	chr4:76521531-76521581	U87	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76529277..76531401-chr4:76541879..76544287,2	K562	blood:
2	chr4:76527827..76530761-chr4:76647722..76649257,2	K562	blood:
3	chr4:76524649..76527101-chr4:76529272..76531389,2	K562	blood:
4	chr4:76524649..76527101-chr4:76529272..76531389,2	K562	blood:
5	chr4:76529277..76531401-chr4:76541879..76544287,2	K562	blood:
6	chr4:76544062..76545803-chr4:76649226..76651976,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-G3BP2-2	chr4:76522119-76522324	NONHSAT096931
2	lnc-G3BP2-2	chr4:76521264-76521524	NONHSAT096931

No data

Variant related genes	Relation type
CDKL2	TF binding region
CDKL2	CpG island
ENSG00000138757	chromatin interactions
ENSG00000138768	chromatin interactions

Extended variants
information (count: 885 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5017983	chr4:76521217-76521218	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555669317	chr4:76521226-76521227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574008384	chr4:76521251-76521252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115887503	chr4:76521256-76521257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546513768	chr4:76521261-76521262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566408632	chr4:76521283-76521284	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545115207	chr4:76521343-76521344	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374943912	chr4:76521384-76521385	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188463194	chr4:76521397-76521398	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs116239451	chr4:76521407-76521408	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs375490121	chr4:76521408-76521409	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs368480072	chr4:76521413-76521414	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78774736	chr4:76521414-76521415	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs199989721	chr4:76521420-76521421	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs146029707	chr4:76521479-76521480	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs138713156	chr4:76521486-76521487	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs201572052	chr4:76521493-76521494	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs146221596	chr4:76521510-76521511	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs56229013	chr4:76521525-76521526	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200261492	chr4:76521531-76521532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533248303	chr4:76521534-76521535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201269989	chr4:76521536-76521537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200374887	chr4:76521561-76521562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374821927	chr4:76521567-76521568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537427657	chr4:76521620-76521621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549404264	chr4:76521628-76521629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190280973	chr4:76521636-76521637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370020311	chr4:76521781-76521782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533119873	chr4:76521827-76521828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77042892	chr4:76521864-76521865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538470562	chr4:76521893-76521894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556989848	chr4:76521921-76521922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112312793	chr4:76521950-76521951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34512344	chr4:76521973-76521974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143138373	chr4:76521978-76521979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560591313	chr4:76522071-76522072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138810739	chr4:76522076-76522077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201407021	chr4:76522100-76522101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368148985	chr4:76522102-76522103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541355196	chr4:76522112-76522113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371315736	chr4:76522116-76522117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555802995	chr4:76522135-76522136	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs201875505	chr4:76522138-76522139	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369720877	chr4:76522140-76522141	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs372242420	chr4:76522147-76522148	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs375476971	chr4:76522174-76522175	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373031282	chr4:76522187-76522188	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs56231363	chr4:76522209-76522210	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs150511430	chr4:76522213-76522214	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs374104401	chr4:76522215-76522216	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76504400-76535200	Weak transcription	Aorta	Aorta
2	chr4:76504800-76526800	Weak transcription	Fetal Brain Female	brain
3	chr4:76508000-76524800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76509600-76532200	Weak transcription	Lung	lung
5	chr4:76509800-76530600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:76510000-76524800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:76512600-76527000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:76514800-76527200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:76515600-76526400	Weak transcription	Pancreas	Pancrea
10	chr4:76517400-76527200	Weak transcription	Fetal Brain Male	brain
11	chr4:76517600-76522000	Weak transcription	Fetal Kidney	kidney
12	chr4:76519800-76522000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:76520000-76537200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:76522000-76522800	Strong transcription	Fetal Kidney	kidney
15	chr4:76522000-76524800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:76522800-76524400	Weak transcription	Fetal Kidney	kidney
17	chr4:76523400-76523800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:76523400-76524400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:76523600-76523800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:76523600-76524000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:76523600-76524000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:76523600-76524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:76523600-76524000	Enhancers	K562	blood
24	chr4:76523600-76524200	Enhancers	HSMM	muscle
25	chr4:76523800-76524200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:76523800-76524200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:76523800-76524400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:76523800-76524400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:76523800-76531600	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:76524000-76526400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:76524800-76525400	Strong transcription	Brain Angular Gyrus	brain
32	chr4:76524800-76525600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:76524800-76526200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:76525400-76528200	Weak transcription	Brain Angular Gyrus	brain
35	chr4:76525600-76527400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:76526200-76554400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:76536800-76537600	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:76537200-76537400	Enhancers	Brain Substantia Nigra	brain
39	chr4:76537600-76537800	Enhancers	Brain Hippocampus Middle	brain

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