Variant report

Variant	rs529112306
Chromosome Location	chr4:110223633-110223634
allele	A/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	TAF1	chr4:110223618-110223902	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
5	TEAD4	chr4:110223565-110224097	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:110223601-110224406	HEK293	kidney:	n/a	n/a
7	MAZ	chr4:110223352-110224634	Hela-S3	cervix:	n/a	chr4:110223549-110223558
8	CHD2	chr4:110223534-110224742	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:110223483-110223912	Hela-S3	cervix:	n/a	n/a
10	TBP	chr4:110223552-110224629	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr4:110223574-110224655	HEK293-T-REx	kidney:	n/a	chr4:110224423-110224444
12	MAX	chr4:110223393-110224655	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
13	MXI1	chr4:110223472-110224606	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:110223527-110224266	H1-neurons	neurons:	n/a	n/a
15	TCF7L2	chr4:110223510-110224740	Hela-S3	cervix:	n/a	n/a
16	KAP1	chr4:110223334-110223876	HEK293	kidney:	n/a	n/a
17	BRCA1	chr4:110223628-110223928	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:110223066-110224582	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:110223590-110223969	Hela-S3	cervix:	n/a	n/a
20	MYC	chr4:110223486-110223786	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
21	CHD2	chr4:110223564-110224692	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
23	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
24	RAD21	chr4:110223629-110223879	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr4:110223378-110224673	ECC-1	luminal epithelium:	n/a	chr4:110223549-110223558
26	MAX	chr4:110223249-110224690	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
27	REST	chr4:110223408-110225135	H1-neurons	neurons:	n/a	chr4:110223562-110223575
28	POLR2A	chr4:110223156-110224477	H1-neurons	neurons:	n/a	n/a
29	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
30	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
31	ZKSCAN1	chr4:110223566-110224554	Hela-S3	cervix:	n/a	n/a
32	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
33	HDAC2	chr4:110223607-110224208	H1-hESC	embryonic stem cell:	n/a	chr4:110223887-110223896 chr4:110223824-110223833
34	GTF2F1	chr4:110223595-110224184	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr4:110223516-110224698	H1-hESC	embryonic stem cell:	n/a	chr4:110223549-110223558
36	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
37	POLR2A	chr4:110223585-110223883	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr4:110223591-110223990	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:110223434-110224802	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:110223415-110224145	Hela-S3	cervix:	n/a	n/a
42	GTF2F1	chr4:110223600-110223938	Hela-S3	cervix:	n/a	n/a
43	SMC3	chr4:110223345-110224681	Hela-S3	cervix:	n/a	n/a
44	ZBTB7A	chr4:110223578-110224460	ECC-1	luminal epithelium:	n/a	chr4:110223718-110223725
45	ZNF143	chr4:110223604-110224555	H1-hESC	embryonic stem cell:	n/a	chr4:110223930-110223940 chr4:110224485-110224494
46	TBP	chr4:110223604-110224685	Hela-S3	cervix:	n/a	n/a
47	MAX	chr4:110223354-110224723	Hela-S3	cervix:	n/a	chr4:110223549-110223558

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110223598-110223648	BJ	skin:	n/a
2	chr4:110223598-110223648	HepG2	liver:	n/a
3	chr4:110223598-110223648	AG09319	gingival:	n/a
4	chr4:110223598-110223648	PFSK-1	brain:	n/a
5	chr4:110223598-110223648	HCPEpiC	choroid plexus:	n/a
6	chr4:110223598-110223648	Hepatocyte	liver:	n/a
7	chr4:110223598-110223648	GM06990	blood:	n/a
8	chr4:110223598-110223648	Caco-2	colon:	n/a
9	chr4:110223598-110223648	GM12878	blood:	n/a
10	chr4:110223598-110223648	H1-hESC	embryonic stem cell:	embryo
11	chr4:110223598-110223648	HUVEC	blood vessel:	n/a
12	chr4:110223598-110223648	Hela-S3	cervix:	n/a
13	chr4:110223598-110223648	SK-N-SH_RA	brain:	n/a
14	chr4:110223598-110223648	Jurkat	blood:	n/a
15	chr4:110223598-110223648	SAEC	small airway:	n/a
16	chr4:110223598-110223648	HIPEpiC	eye:	n/a
17	chr4:110223598-110223648	HCM	heart:	n/a
18	chr4:110223598-110223648	CMK	blood:	n/a
19	chr4:110223598-110223648	HCT-116	colon:	n/a
20	chr4:110223598-110223648	MCF10A-Er-Src	breast:	n/a
21	chr4:110223598-110223648	A549	lung:	n/a
22	chr4:110223598-110223648	NT2-D1	testis:	n/a
23	chr4:110223598-110223648	AG09309	skin:	n/a
24	chr4:110223598-110223648	HRPEpiC	eye:	n/a
25	chr4:110223598-110223648	HAEpiC	amniotic membrane:	n/a
26	chr4:110223598-110223648	PANC-1	pancreas:	n/a
27	chr4:110223598-110223648	GM19239	blood:	n/a
28	chr4:110223598-110223648	IMR90	lung:	fetal
29	chr4:110223598-110223648	AG04449	skin:	fetal
30	chr4:110223598-110223648	AG04450	lung:	fetal
31	chr4:110223598-110223648	SKMC	muscle:	n/a
32	chr4:110223598-110223648	HCF	heart:	n/a
33	chr4:110223598-110223648	T-47D	breast:	n/a
34	chr4:110223598-110223648	K562	blood:	n/a
35	chr4:110223598-110223648	HEEpiC	esophagus:	n/a
36	chr4:110223598-110223648	RPTEC	kidney:	n/a
37	chr4:110223598-110223648	ProgFib	skin:	n/a
38	chr4:110223598-110223648	GM12892	blood:	n/a
39	chr4:110223598-110223648	HRCEpiC	kidney:	n/a
40	chr4:110223598-110223648	ovcar-3	ovarian:	n/a
41	chr4:110223598-110223648	PrEC	prostate:	n/a
42	chr4:110223598-110223648	NHDF-neo	bronchial:	n/a
43	chr4:110223598-110223648	HRE	kidney:	n/a
44	chr4:110223598-110223648	NHBE	bronchial:	n/a
45	chr4:110223598-110223648	U87	brain:	n/a
46	chr4:110223598-110223648	AG10803	skin:	n/a
47	chr4:110223598-110223648	HL-60	blood:	n/a
48	chr4:110223598-110223648	BE2_C	brain:	n/a
49	chr4:110223598-110223648	HEK293	kidney:	embryo
50	chr4:110223598-110223648	GM12891	blood:	n/a

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
COL25A1	TF binding region
ENSG00000246774	TF binding region
COL25A1	CpG island
ENSG00000246774	CpG island
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:123 , 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	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr4:110222800-110223800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr4:110222800-110224200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
16	chr4:110222800-110224400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:110222800-110224600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:110222800-110224600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr4:110222800-110224600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr4:110222800-110224800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:110222800-110225000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:110223000-110223800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
27	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
28	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
30	chr4:110223000-110223800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
31	chr4:110223000-110224000	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr4:110223000-110224200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr4:110223000-110224200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:110223000-110224200	Enhancers	Spleen	Spleen
35	chr4:110223000-110224400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr4:110223000-110224400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr4:110223000-110224400	Flanking Active TSS	Pancreas	Pancrea
38	chr4:110223000-110224600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:110223000-110224600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:110223000-110224800	Active TSS	Fetal Kidney	kidney
45	chr4:110223200-110223800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:110223200-110223800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:110223200-110223800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:110223200-110223800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
49	chr4:110223200-110223800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
50	chr4:110223200-110224000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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