Variant report

Variant	rs540038783
Chromosome Location	chr4:110223906-110223907
allele	C/G
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	TFAP2C	chr4:110223633-110224725	Hela-S3	cervix:	n/a	chr4:110224449-110224464
2	POLR2A	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
3	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:110223671-110223935	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr4:110223565-110224097	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr4:110223671-110224573	Hela-S3	cervix:	n/a	chr4:110223930-110223940 chr4:110224485-110224494
7	POLR2A	chr4:110223601-110224406	HEK293	kidney:	n/a	n/a
8	MAZ	chr4:110223352-110224634	Hela-S3	cervix:	n/a	chr4:110223549-110223558
9	CHD2	chr4:110223534-110224742	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:110223483-110223912	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr4:110223695-110224676	H1-hESC	embryonic stem cell:	n/a	chr4:110223960-110223971 chr4:110223944-110223955
12	RCOR1	chr4:110223652-110224703	Hela-S3	cervix:	n/a	n/a
13	TBP	chr4:110223552-110224629	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF263	chr4:110223574-110224655	HEK293-T-REx	kidney:	n/a	chr4:110224423-110224444
15	MAX	chr4:110223393-110224655	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
16	MXI1	chr4:110223472-110224606	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr4:110223527-110224266	H1-neurons	neurons:	n/a	n/a
18	TCF7L2	chr4:110223510-110224740	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr4:110223628-110223928	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELK1	chr4:110223721-110224470	Hela-S3	cervix:	n/a	n/a
21	BACH1	chr4:110223066-110224582	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:110223590-110223969	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr4:110223564-110224692	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr4:110223692-110224660	Hela-S3	cervix:	n/a	chr4:110224486-110224499
25	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
26	E2F6	chr4:110222693-110224729	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
27	EP300	chr4:110223652-110224194	H1-hESC	embryonic stem cell:	n/a	chr4:110223957-110223973 chr4:110223924-110223940
28	MAX	chr4:110223378-110224673	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
29	MAX	chr4:110223249-110224690	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
30	REST	chr4:110223408-110225135	H1-neurons	neurons:	n/a	chr4:110223562-110223575
31	POLR2A	chr4:110223156-110224477	H1-neurons	neurons:	n/a	n/a
32	E2F6	chr4:110222639-110224837	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
33	ZBTB7A	chr4:110223703-110224507	ECC-1	luminal epithelium:	n/a	chr4:110223718-110223725
34	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr4:110223703-110223972	Hela-S3	cervix:	n/a	n/a
36	ZKSCAN1	chr4:110223566-110224554	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr4:110223820-110223970	HUVEC	blood vessel:	n/a	n/a
38	SP1	chr4:110223597-110224376	H1-hESC	embryonic stem cell:	n/a	chr4:110224164-110224174 chr4:110224164-110224178 chr4:110223717-110223724 chr4:110223916-110223930 chr4:110224163-110224175 chr4:110224078-110224092 chr4:110224165-110224174 chr4:110224163-110224175
39	HDAC2	chr4:110223607-110224208	H1-hESC	embryonic stem cell:	n/a	chr4:110223887-110223896 chr4:110223824-110223833
40	GTF2F1	chr4:110223595-110224184	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr4:110223516-110224698	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
42	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
43	CEBPB	chr4:110223715-110224447	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr4:110223591-110223990	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:110223434-110224802	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:110223415-110224145	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr4:110223668-110223974	H1-hESC	embryonic stem cell:	n/a	n/a
49	GTF2F1	chr4:110223600-110223938	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr4:110223345-110224681	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:82782990..82783526-chr4:110222986..110223918,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000246774	TF binding region
COL25A1	TF binding region
ENSG00000246067	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv515893	chr4:110222845-110254841	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110221600-110224200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
2	chr4:110221800-110224600	Active TSS	Hela-S3	cervix
3	chr4:110222200-110224600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
6	chr4:110222800-110224200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
7	chr4:110222800-110224400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:110222800-110224600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:110222800-110224600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr4:110222800-110224800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:110222800-110225000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:110223000-110224000	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr4:110223000-110224200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
18	chr4:110223000-110224200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:110223000-110224200	Enhancers	Spleen	Spleen
20	chr4:110223000-110224400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
21	chr4:110223000-110224400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr4:110223000-110224400	Flanking Active TSS	Pancreas	Pancrea
23	chr4:110223000-110224600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:110223000-110224800	Active TSS	Fetal Kidney	kidney
30	chr4:110223200-110224000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:110223200-110224200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr4:110223200-110224400	Active TSS	Brain Angular Gyrus	brain
33	chr4:110223200-110224400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr4:110223200-110224400	Active TSS	Right Ventricle	heart
35	chr4:110223200-110224600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr4:110223200-110224600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr4:110223200-110224600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:110223200-110224600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:110223200-110224600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:110223200-110224600	Bivalent/Poised TSS	NHDF-Ad	bronchial
41	chr4:110223200-110224600	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr4:110223200-110224800	Active TSS	Aorta	Aorta
43	chr4:110223200-110224800	Active TSS	Fetal Brain Female	brain
44	chr4:110223400-110224200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:110223400-110224200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr4:110223400-110224400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:110223400-110224400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:110223400-110224400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:110223400-110224400	Active TSS	Ovary	ovary
50	chr4:110223400-110224400	Active TSS	Psoas Muscle	Psoas

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