Variant report

Variant	esv3330221
Chromosome Location	chr4:7863700-7868089
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	chr4:7865603-7865907	GM12878	blood:	n/a	n/a
2	BATF	chr4:7865535-7865904	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:7865563-7865923	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:7865557-7865916	GM12878	blood:	n/a	n/a
5	BCL3	chr4:7862971-7863720	A549	lung:	n/a	n/a
6	BRCA1	chr4:7865543-7865905	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:7862955-7863793	A549	lung:	n/a	n/a
8	CEBPB	chr4:7867908-7868375	IMR90	lung:	n/a	chr4:7868284-7868297 chr4:7868267-7868280
9	CEBPB	chr4:7863117-7863723	A549	lung:	n/a	n/a
10	CTCF	chr4:7865860-7866010	GM12867	blood:	n/a	n/a
11	CTCF	chr4:7865620-7865770	HAc	cerebellar:	n/a	n/a
12	CTCF	chr4:7865691-7865738	Fibrobl	skin:	n/a	n/a
13	CTCF	chr4:7865600-7865750	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr4:7865600-7865750	HAc	cerebellar:	n/a	n/a
15	CTCF	chr4:7865620-7865770	GM12865	blood:	n/a	n/a
16	CTCF	chr4:7865720-7865870	HPF	lung:	n/a	n/a
17	CTCF	chr4:7865717-7865768	GM10248	blood:	n/a	n/a
18	EBF1	chr4:7865601-7865892	GM12878	blood:	n/a	n/a
19	EP300	chr4:7865616-7865911	GM12878	blood:	n/a	n/a
20	EP300	chr4:7862940-7863784	A549	lung:	n/a	chr4:7863515-7863525 chr4:7863503-7863517
21	EP300	chr4:7865563-7866009	GM12878	blood:	n/a	n/a
22	EP300	chr4:7862887-7863807	A549	lung:	n/a	chr4:7863515-7863525 chr4:7863503-7863517
23	EP300	chr4:7862897-7863794	SK-N-SH	brain:	n/a	chr4:7863515-7863525 chr4:7863503-7863517
24	EP300	chr4:7862936-7863846	SK-N-SH	brain:	n/a	chr4:7863515-7863525 chr4:7863503-7863517
25	FOSL2	chr4:7862912-7863760	A549	lung:	n/a	n/a
26	FOSL2	chr4:7862942-7863795	SK-N-SH	brain:	n/a	n/a
27	FOSL2	chr4:7865595-7865991	HepG2	liver:	n/a	n/a
28	FOSL2	chr4:7865565-7865962	HepG2	liver:	n/a	n/a
29	FOXA2	chr4:7863002-7863789	A549	lung:	n/a	n/a
30	FOXP2	chr4:7865622-7865793	PFSK-1	brain:	n/a	n/a
31	GABPA	chr4:7865598-7865928	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr4:7865628-7865891	Hela-S3	cervix:	n/a	n/a
33	GATA2	chr4:7862914-7863786	HUVEC	blood vessel:	n/a	n/a
34	GATA2	chr4:7865587-7865934	K562	blood:	n/a	n/a
35	GATA3	chr4:7862748-7863915	A549	lung:	n/a	n/a
36	GATA3	chr4:7862933-7863888	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr4:7862852-7863857	SK-N-SH	brain:	n/a	n/a
38	GTF2F1	chr4:7865709-7865731	H1-hESC	embryonic stem cell:	n/a	n/a
39	HEY1	chr4:7865585-7865927	HepG2	liver:	n/a	n/a
40	IKZF1	chr4:7865534-7866058	GM12878	blood:	n/a	n/a
41	IRF4	chr4:7865570-7865874	GM12878	blood:	n/a	n/a
42	IRF4	chr4:7865565-7866053	GM12878	blood:	n/a	n/a
43	JUND	chr4:7865613-7865888	HepG2	liver:	n/a	n/a
44	JUND	chr4:7865627-7865905	HepG2	liver:	n/a	n/a
45	JUND	chr4:7862921-7863837	SK-N-SH	brain:	n/a	n/a
46	JUND	chr4:7862928-7863858	SK-N-SH	brain:	n/a	n/a
47	MAFF	chr4:7867318-7867581	HepG2	liver:	n/a	chr4:7867414-7867432 chr4:7867420-7867434
48	MAFK	chr4:7867279-7867578	HepG2	liver:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
49	MAFK	chr4:7867297-7867593	IMR90	lung:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435
50	MAFK	chr4:7867268-7867570	HepG2	liver:	n/a	chr4:7867416-7867431 chr4:7867416-7867427 chr4:7867417-7867428 chr4:7867417-7867437 chr4:7867416-7867432 chr4:7867420-7867434 chr4:7867417-7867428 chr4:7867416-7867427 chr4:7867415-7867429 chr4:7867419-7867435

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 278 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138101891	chr4:7863707-7863708	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73090518	chr4:7863716-7863717	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73210864	chr4:7863724-7863725	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192209520	chr4:7863733-7863734	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567549100	chr4:7863758-7863759	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538047580	chr4:7863808-7863809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78945373	chr4:7863847-7863848	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184317467	chr4:7863888-7863889	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574954799	chr4:7863902-7863903	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539424245	chr4:7863941-7863942	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557443617	chr4:7863942-7863943	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59283470	chr4:7863978-7863979	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189481790	chr4:7863989-7863990	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62289320	chr4:7863995-7863996	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs139929986	chr4:7864011-7864012	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544408767	chr4:7864028-7864029	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367589843	chr4:7864083-7864084	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs58949603	chr4:7864084-7864085	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112624977	chr4:7864094-7864095	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113262474	chr4:7864129-7864130	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs60019113	chr4:7864130-7864131	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76567276	chr4:7864131-7864132	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200072811	chr4:7864133-7864134	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs60187106	chr4:7864134-7864135	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533222780	chr4:7864136-7864137	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs72043863	chr4:7864141-7864142	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56309889	chr4:7864142-7864143	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57956213	chr4:7864143-7864144	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76452996	chr4:7864148-7864149	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551774514	chr4:7864149-7864150	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs58012481	chr4:7864156-7864157	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527663813	chr4:7864210-7864211	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538118057	chr4:7864247-7864248	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549314180	chr4:7864290-7864291	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58569022	chr4:7864311-7864312	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538057811	chr4:7864313-7864314	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62289321	chr4:7864330-7864331	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6838073	chr4:7864406-7864407	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs568630748	chr4:7864422-7864423	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75384505	chr4:7864451-7864452	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs6816389	chr4:7864457-7864458	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs572979392	chr4:7864462-7864463	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142819242	chr4:7864474-7864475	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370952595	chr4:7864495-7864496	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs77205910	chr4:7864500-7864501	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555742352	chr4:7864515-7864516	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573942958	chr4:7864555-7864556	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs61292547	chr4:7864588-7864589	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146103759	chr4:7864622-7864623	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529216230	chr4:7864630-7864631	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7856400-7865600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7857200-7864800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
8	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
9	chr4:7859000-7865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:7859400-7865600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:7859400-7865600	Genic enhancers	Osteobl	bone
12	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:7859800-7865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:7859800-7865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:7859800-7865600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:7859800-7865600	Weak transcription	Stomach Mucosa	stomach
18	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:7860000-7864800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:7860000-7864800	Genic enhancers	HSMMtube	muscle
21	chr4:7860000-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:7860000-7865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:7860400-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:7860600-7865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:7860800-7865600	Weak transcription	Gastric	stomach
28	chr4:7860800-7865600	Weak transcription	Lung	lung
29	chr4:7860800-7865600	Weak transcription	Pancreas	Pancrea
30	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
31	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
32	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
33	chr4:7861400-7863800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr4:7861400-7865600	Weak transcription	HepG2	liver
35	chr4:7862000-7863800	Enhancers	Fetal Brain Female	brain
36	chr4:7862000-7865200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:7862000-7865600	Genic enhancers	HSMM	muscle
38	chr4:7862200-7863800	Enhancers	Colon Smooth Muscle	Colon
39	chr4:7862200-7863800	Strong transcription	Fetal Intestine Large	intestine
40	chr4:7862200-7863800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:7862200-7864000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7862200-7865000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:7862200-7865200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:7862200-7865400	Enhancers	Fetal Brain Male	brain
45	chr4:7862400-7864000	Enhancers	HMEC	breast
46	chr4:7862400-7864200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:7862400-7864600	Enhancers	Brain Germinal Matrix	brain
48	chr4:7862400-7865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:7862600-7863800	Flanking Active TSS	A549	lung
50	chr4:7862600-7864600	Enhancers	NHDF-Ad	bronchial

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