Variant report

Variant	rs572524245
Chromosome Location	chr4:110223488-110223489
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	POLR2A	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr4:110223352-110224634	Hela-S3	cervix:	n/a	chr4:110223549-110223558
4	POLR2A	chr4:110223483-110223912	Hela-S3	cervix:	n/a	n/a
5	MAX	chr4:110223393-110224655	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
6	MXI1	chr4:110223472-110224606	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr4:110223334-110223876	HEK293	kidney:	n/a	n/a
8	BACH1	chr4:110223066-110224582	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr4:110223486-110223786	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
10	SIN3A	chr4:110223374-110223490	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
12	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
13	MAX	chr4:110223378-110224673	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
14	MAX	chr4:110223249-110224690	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
15	REST	chr4:110223408-110225135	H1-neurons	neurons:	n/a	chr4:110223562-110223575
16	POLR2A	chr4:110223156-110224477	H1-neurons	neurons:	n/a	n/a
17	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
18	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
19	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
20	POLR2A	chr4:110223434-110224802	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:110223415-110224145	Hela-S3	cervix:	n/a	n/a
23	SMC3	chr4:110223345-110224681	Hela-S3	cervix:	n/a	n/a
24	MAX	chr4:110223354-110224723	Hela-S3	cervix:	n/a	chr4:110223549-110223558

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24B-1	chr4:110222877-110223861	NONHSAT097774

Variant related genes	Relation type
ENSG00000246774	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	chr4:110222600-110223800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
6	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
7	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
8	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
10	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
12	chr4:110222800-110223600	Bivalent Enhancer	Placenta	Placenta
13	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
14	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr4:110222800-110223800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr4:110222800-110224200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
20	chr4:110222800-110224400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:110222800-110224600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:110222800-110224600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr4:110222800-110224800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:110222800-110225000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:110223000-110223600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:110223000-110223600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
32	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
37	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr4:110223000-110223600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr4:110223000-110223600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr4:110223000-110223800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
44	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
46	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
47	chr4:110223000-110224000	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr4:110223000-110224200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr4:110223000-110224200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:110223000-110224200	Enhancers	Spleen	Spleen

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