Variant report

Variant	esv8707
Chromosome Location	chr4:7865702-7865894
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	chr4:7865603-7865907	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	BRCA1	chr4:7865543-7865905	HepG2	liver:	n/a	n/a
6	CTCF	chr4:7865860-7866010	GM12867	blood:	n/a	n/a
7	CTCF	chr4:7865620-7865770	GM12865	blood:	n/a	n/a
8	CTCF	chr4:7865620-7865770	HAc	cerebellar:	n/a	n/a
9	CTCF	chr4:7865691-7865738	Fibrobl	skin:	n/a	n/a
10	CTCF	chr4:7865720-7865870	HPF	lung:	n/a	n/a
11	CTCF	chr4:7865717-7865768	GM10248	blood:	n/a	n/a
12	CTCF	chr4:7865600-7865750	HAc	cerebellar:	n/a	n/a
13	CTCF	chr4:7865600-7865750	HFF-Myc	foreskin:	n/a	n/a
14	EBF1	chr4:7865601-7865892	GM12878	blood:	n/a	n/a
15	EP300	chr4:7865563-7866009	GM12878	blood:	n/a	n/a
16	EP300	chr4:7865616-7865911	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	chr4:7865565-7866053	GM12878	blood:	n/a	n/a
27	IRF4	chr4:7865570-7865874	GM12878	blood:	n/a	n/a
28	JUND	chr4:7865613-7865888	HepG2	liver:	n/a	n/a
29	JUND	chr4:7865627-7865905	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	chr4:7865554-7866091	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	chr4:7865589-7865931	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	chr4:7865536-7866136	A549	lung:	n/a	n/a
39	POLR2A	chr4:7865573-7866155	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr4:7865614-7865933	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:7865524-7866007	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:7865556-7865993	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:7865840-7865871	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:7865647-7865906	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:7865580-7865753	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr4:7865590-7866213	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr4:7865623-7865899	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:7865719-7865727	Gliobla	brain:	n/a	n/a
49	POLR2A	chr4:7865595-7865753	A549	lung:	n/a	n/a
50	POLR2A	chr4:7865621-7865753	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	rs74384587	chr4:7865762-7865763	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
10	rs75655307	chr4:7865772-7865773	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
11	rs74914167	chr4:7865774-7865775	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
12	rs79923402	chr4:7865796-7865797	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
13	rs113159346	chr4:7865797-7865798	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
14	rs78890031	chr4:7865798-7865799	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
15	rs113881313	chr4:7865807-7865808	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372253705	chr4:7865810-7865811	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs62289327	chr4:7865820-7865821	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112636592	chr4:7865821-7865822	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111605581	chr4:7865822-7865823	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs111595700	chr4:7865834-7865835	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375780444	chr4:7865837-7865838	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62289328	chr4:7865844-7865845	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs80115971	chr4:7865846-7865847	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201406059	chr4:7865858-7865859	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62289329	chr4:7865868-7865869	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76760152	chr4:7865870-7865871	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs540632203	chr4:7865873-7865874	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs79545121	chr4:7865882-7865883	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74895623	chr4:7865892-7865893	Weak transcription ZNF genes & repeats Genic enhancers 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:117 , 50 per page) page: 1 2 3

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	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
6	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
7	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
13	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
14	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
15	chr4:7862600-7870000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:7862800-7868600	Weak transcription	Left Ventricle	heart
17	chr4:7863200-7867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:7863400-7865800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:7863400-7867200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:7863600-7866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:7863600-7868400	Weak transcription	Placenta	Placenta
22	chr4:7863600-7869000	Weak transcription	Adipose Nuclei	Adipose
23	chr4:7863600-7871000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:7863800-7865800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:7863800-7866000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:7863800-7869000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:7863800-7869000	Weak transcription	Fetal Brain Female	brain
28	chr4:7863800-7869000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:7863800-7872800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:7864000-7866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:7864200-7866000	Genic enhancers	NH-A	brain
32	chr4:7864800-7867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:7864800-7873000	Weak transcription	Primary T cells from cord blood	blood
34	chr4:7865200-7872200	Weak transcription	Right Atrium	heart
35	chr4:7865400-7866000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:7865400-7867200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:7865400-7868400	Weak transcription	Brain Germinal Matrix	brain
38	chr4:7865400-7869000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:7865400-7872600	Weak transcription	Fetal Heart	heart
40	chr4:7865400-7875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:7865600-7865800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7865600-7865800	ZNF genes & repeats	Liver	Liver
43	chr4:7865600-7865800	Enhancers	Brain Anterior Caudate	brain
44	chr4:7865600-7865800	Genic enhancers	Fetal Stomach	stomach
45	chr4:7865600-7865800	Genic enhancers	Gastric	stomach
46	chr4:7865600-7865800	Genic enhancers	Pancreas	Pancrea
47	chr4:7865600-7865800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr4:7865600-7865800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
49	chr4:7865600-7866000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr4:7865600-7866000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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