Variant report

Variant	esv3343056
Chromosome Location	chr4:7865226-7866282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:7865535-7865904	GM12878	blood:	n/a	n/a
2	BATF	chr4:7865603-7865907	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	BRCA1	chr4:7865543-7865905	HepG2	liver:	n/a	n/a
6	CTCF	chr4:7865717-7865768	GM10248	blood:	n/a	n/a
7	CTCF	chr4:7865620-7865770	GM12865	blood:	n/a	n/a
8	CTCF	chr4:7865600-7865750	HAc	cerebellar:	n/a	n/a
9	CTCF	chr4:7865691-7865738	Fibrobl	skin:	n/a	n/a
10	CTCF	chr4:7865620-7865770	HAc	cerebellar:	n/a	n/a
11	CTCF	chr4:7865720-7865870	HPF	lung:	n/a	n/a
12	CTCF	chr4:7865600-7865750	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr4:7865860-7866010	GM12867	blood:	n/a	n/a
14	EBF1	chr4:7865601-7865892	GM12878	blood:	n/a	n/a
15	EP300	chr4:7865616-7865911	GM12878	blood:	n/a	n/a
16	EP300	chr4:7865563-7866009	GM12878	blood:	n/a	n/a
17	FOSL2	chr4:7865565-7865962	HepG2	liver:	n/a	n/a
18	FOSL2	chr4:7865595-7865991	HepG2	liver:	n/a	n/a
19	FOXP2	chr4:7865622-7865793	PFSK-1	brain:	n/a	n/a
20	GABPA	chr4:7865598-7865928	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr4:7865628-7865891	Hela-S3	cervix:	n/a	n/a
22	GATA2	chr4:7865587-7865934	K562	blood:	n/a	n/a
23	GTF2F1	chr4:7865709-7865731	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr4:7865585-7865927	HepG2	liver:	n/a	n/a
25	IKZF1	chr4:7865534-7866058	GM12878	blood:	n/a	n/a
26	IRF4	chr4:7865570-7865874	GM12878	blood:	n/a	n/a
27	IRF4	chr4:7865565-7866053	GM12878	blood:	n/a	n/a
28	JUND	chr4:7865627-7865905	HepG2	liver:	n/a	n/a
29	JUND	chr4:7865613-7865888	HepG2	liver:	n/a	n/a
30	MAX	chr4:7865548-7865901	HepG2	liver:	n/a	n/a
31	MAZ	chr4:7865719-7865876	Hela-S3	cervix:	n/a	n/a
32	PAX5	chr4:7865589-7865931	GM12878	blood:	n/a	n/a
33	PAX5	chr4:7865547-7865980	GM12878	blood:	n/a	n/a
34	PAX5	chr4:7865625-7865905	GM12878	blood:	n/a	n/a
35	PAX5	chr4:7865554-7866091	GM12878	blood:	n/a	n/a
36	PBX3	chr4:7865618-7865905	GM12878	blood:	n/a	n/a
37	PBX3	chr4:7865625-7865893	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:7865590-7866213	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr4:7865840-7865871	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:7865484-7866047	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr4:7865723-7865742	MCF-7	breast:	n/a	n/a
42	POLR2A	chr4:7865573-7866155	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr4:7865771-7866056	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:7865623-7865899	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:7865647-7865906	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:7865621-7865753	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:7865719-7865727	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:7865556-7865993	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr4:7865614-7865933	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr4:7865546-7865975	SK-N-SH	brain:	n/a	n/a

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541288808	chr4:7865233-7865234	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373199861	chr4:7865239-7865240	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186069309	chr4:7865252-7865253	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573817916	chr4:7865262-7865263	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530301117	chr4:7865292-7865293	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549127646	chr4:7865296-7865297	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs28738908	chr4:7865324-7865325	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs531341421	chr4:7865337-7865338	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549703379	chr4:7865347-7865348	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs75021530	chr4:7865376-7865377	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
11	rs62289323	chr4:7865387-7865388	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs73090524	chr4:7865399-7865400	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536032828	chr4:7865400-7865401	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554686922	chr4:7865403-7865404	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190442840	chr4:7865414-7865415	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528612637	chr4:7865429-7865430	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201335809	chr4:7865476-7865477	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546644831	chr4:7865477-7865478	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76456033	chr4:7865486-7865487	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs114533425	chr4:7865505-7865506	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541745327	chr4:7865531-7865532	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79477362	chr4:7865532-7865533	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs114025504	chr4:7865534-7865535	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550874019	chr4:7865541-7865542	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs114807457	chr4:7865543-7865544	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs147708135	chr4:7865555-7865556	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183459123	chr4:7865564-7865565	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549524825	chr4:7865584-7865585	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145859821	chr4:7865585-7865586	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73210866	chr4:7865587-7865588	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs79447659	chr4:7865592-7865593	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370180793	chr4:7865604-7865605	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187034472	chr4:7865631-7865632	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs114312875	chr4:7865643-7865644	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547936680	chr4:7865654-7865655	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569838585	chr4:7865667-7865668	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs77291496	chr4:7865676-7865677	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112967557	chr4:7865678-7865679	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs80243155	chr4:7865679-7865680	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111759696	chr4:7865690-7865691	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs367990325	chr4:7865693-7865694	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62289324	chr4:7865700-7865701	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62289325	chr4:7865702-7865703	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375310255	chr4:7865717-7865718	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs79281398	chr4:7865724-7865725	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs77541477	chr4:7865726-7865727	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367706259	chr4:7865736-7865737	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs112193682	chr4:7865738-7865739	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62289326	chr4:7865748-7865749	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79728143	chr4:7865750-7865751	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	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:258 , 50 per page) page: 1 2 3 4 5 6

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	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
7	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
8	chr4:7859000-7865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:7859400-7865600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:7859400-7865600	Genic enhancers	Osteobl	bone
11	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:7859800-7865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:7859800-7865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:7859800-7865600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:7859800-7865600	Weak transcription	Stomach Mucosa	stomach
17	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:7860000-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:7860000-7865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:7860400-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:7860600-7865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:7860800-7865600	Weak transcription	Gastric	stomach
25	chr4:7860800-7865600	Weak transcription	Lung	lung
26	chr4:7860800-7865600	Weak transcription	Pancreas	Pancrea
27	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
28	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
29	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
30	chr4:7861400-7865600	Weak transcription	HepG2	liver
31	chr4:7862000-7865600	Genic enhancers	HSMM	muscle
32	chr4:7862200-7865400	Enhancers	Fetal Brain Male	brain
33	chr4:7862400-7865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:7862600-7865600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:7862600-7870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:7862800-7865600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:7862800-7865600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:7862800-7865600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7862800-7865600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:7862800-7865600	Weak transcription	Esophagus	oesophagus
41	chr4:7862800-7865600	Weak transcription	Ovary	ovary
42	chr4:7862800-7868600	Weak transcription	Left Ventricle	heart
43	chr4:7863000-7865400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:7863200-7865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:7863200-7867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:7863400-7865400	Enhancers	Fetal Heart	heart
47	chr4:7863400-7865600	Weak transcription	Fetal Intestine Small	intestine
48	chr4:7863400-7865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:7863400-7865600	Weak transcription	NHEK	skin
50	chr4:7863400-7865800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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