Variant report

Variant	rs375808450
Chromosome Location	chr4:20253336-20253337
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	ZBTB7A	chr4:20253025-20254617	ECC-1	luminal epithelium:	n/a	chr4:20253322-20253331 chr4:20253750-20253758
2	TAF1	chr4:20253060-20254152	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr4:20252951-20253935	H1-hESC	embryonic stem cell:	n/a	chr4:20253386-20253396
4	JUND	chr4:20253134-20254055	H1-hESC	embryonic stem cell:	n/a	chr4:20253775-20253789
5	YY1	chr4:20253184-20253836	ECC-1	luminal epithelium:	n/a	chr4:20253572-20253583 chr4:20253365-20253374 chr4:20253571-20253580
6	POLR2A	chr4:20253177-20253884	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr4:20253209-20254030	HUVEC	blood vessel:	n/a	n/a
8	ZNF143	chr4:20253258-20253433	Hela-S3	cervix:	n/a	n/a
9	TBP	chr4:20252936-20254055	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:20253147-20253891	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr4:20253238-20253898	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:20253066-20253887	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr4:20253280-20253430	WERI-Rb-1	eye:	n/a	n/a
14	POLR2A	chr4:20253230-20253873	ProgFib	skin:	n/a	n/a
15	MAX	chr4:20252775-20254559	ECC-1	luminal epithelium:	n/a	chr4:20253386-20253396
16	EGR1	chr4:20253161-20253708	H1-hESC	embryonic stem cell:	n/a	chr4:20253363-20253376 chr4:20253361-20253371 chr4:20253318-20253331
17	MAZ	chr4:20253041-20254964	IMR90	lung:	n/a	chr4:20253386-20253396
18	POLR2A	chr4:20253267-20253399	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:20253057-20255631	HEK293	kidney:	n/a	n/a
20	POLR2A	chr4:20253213-20253825	Gliobla	brain:	n/a	n/a
21	CTCF	chr4:20253200-20253350	BJ	skin:	n/a	n/a
22	TAF1	chr4:20253329-20253723	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr4:20253259-20253601	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:20253330-20255237	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr4:20253324-20253693	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr4:20253112-20254794	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr4:20252937-20253831	SK-N-SH	brain:	n/a	chr4:20253386-20253396
28	POLR2A	chr4:20253180-20253821	Hela-S3	cervix:	n/a	n/a
29	PBX3	chr4:20253289-20253822	SK-N-SH	brain:	n/a	chr4:20253793-20253813
30	REST	chr4:20253052-20254957	H1-neurons	neurons:	n/a	chr4:20253730-20253748 chr4:20254048-20254061 chr4:20254554-20254574
31	SMC3	chr4:20253245-20254155	Hela-S3	cervix:	n/a	chr4:20253441-20253451 chr4:20254081-20254091
32	TCF12	chr4:20253255-20254174	ECC-1	luminal epithelium:	n/a	chr4:20253418-20253425
33	POLR2A	chr4:20253262-20253842	HUVEC	blood vessel:	n/a	n/a
34	BACH1	chr4:20253093-20253368	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:20253310-20253867	MCF-7	breast:	n/a	n/a
36	HA-E2F1	chr4:20253163-20254221	Hela-S3	cervix:	n/a	chr4:20253349-20253358 chr4:20253770-20253779 chr4:20253508-20253517 chr4:20253357-20253367 chr4:20253444-20253453
37	EGR1	chr4:20253203-20253800	ECC-1	luminal epithelium:	n/a	chr4:20253363-20253376 chr4:20253361-20253371 chr4:20253318-20253331
38	E2F6	chr4:20253194-20254243	H1-hESC	embryonic stem cell:	n/a	chr4:20253349-20253358 chr4:20253770-20253779 chr4:20253508-20253517 chr4:20253357-20253367 chr4:20253444-20253453
39	CTCF	chr4:20253320-20253470	HBMEC	blood vessel:	n/a	chr4:20253440-20253450
40	NFIC	chr4:20252963-20253918	SK-N-SH	brain:	n/a	n/a
41	MXI1	chr4:20253248-20253507	HepG2	liver:	n/a	n/a
42	SIN3A	chr4:20252815-20254790	H1-hESC	embryonic stem cell:	n/a	chr4:20254076-20254085 chr4:20254559-20254573
43	GTF2F1	chr4:20253329-20253702	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:20253295-20253768	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:20253262-20253954	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr4:20253214-20254016	MCF-7	breast:	n/a	n/a
47	MAX	chr4:20253060-20253887	SK-N-SH	brain:	n/a	chr4:20253386-20253396
48	PBX3	chr4:20253016-20254029	SK-N-SH	brain:	n/a	chr4:20253793-20253813
49	CTBP2	chr4:20252818-20254039	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr4:20253318-20253564	Kidney_OC	kidney:	n/a	chr4:20253440-20253450

No.	Distal block	Cell Line	Cell type
1	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:
2	chr4:20252097..20254985-chr4:20256141..20260392,5	MCF-7	breast:
3	chr4:20025908..20028659-chr4:20253195..20254796,2	MCF-7	breast:

Variant related genes	Relation type
SLIT2	TF binding region
ENSG00000145147	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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3373550	chr4:20252479-20255027	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
2	chr4:20252400-20255200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:20252400-20256400	Active TSS	Brain Anterior Caudate	brain
4	chr4:20252400-20257000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:20252400-20257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:20252600-20254200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:20252600-20254400	Active TSS	Right Atrium	heart
8	chr4:20252600-20255000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:20252600-20255000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:20252600-20255000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:20252600-20255600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:20252600-20257000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr4:20252600-20257200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:20252600-20257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:20252600-20257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:20252800-20253400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr4:20252800-20253600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:20252800-20253800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:20252800-20253800	Active TSS	Fetal Muscle Leg	muscle
20	chr4:20252800-20253800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr4:20252800-20253800	Active TSS	HMEC	breast
22	chr4:20252800-20254000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:20252800-20254000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:20252800-20254000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:20252800-20254000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr4:20252800-20254000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:20252800-20254000	Active TSS	Right Ventricle	heart
28	chr4:20252800-20254000	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:20252800-20254200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:20252800-20254200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:20252800-20254200	Active TSS	Brain Substantia Nigra	brain
32	chr4:20252800-20254200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr4:20252800-20254200	Active TSS	Ovary	ovary
34	chr4:20252800-20254400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr4:20252800-20254400	Active TSS	Fetal Kidney	kidney
36	chr4:20252800-20254400	Active TSS	Rectal Smooth Muscle	rectum
37	chr4:20252800-20254800	Active TSS	Left Ventricle	heart
38	chr4:20252800-20257000	Active TSS	Osteobl	bone
39	chr4:20252800-20258600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:20253000-20253400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:20253000-20253400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:20253000-20253400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:20253000-20253600	Bivalent/Poised TSS	Placenta	Placenta
44	chr4:20253000-20253800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:20253000-20253800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:20253000-20253800	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr4:20253000-20253800	Active TSS	Colonic Mucosa	Colon
48	chr4:20253000-20253800	Active TSS	Duodenum Mucosa	Duodenum
49	chr4:20253000-20253800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr4:20253000-20253800	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links