Variant report

Variant	rs371393590
Chromosome Location	chr4:20255567-20255568
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	SIN3AK20	chr4:20255264-20256015	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:20255377-20256462	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF263	chr4:20255416-20257129	HEK293-T-REx	kidney:	n/a	chr4:20255417-20255426
4	POLR2A	chr4:20253057-20255631	HEK293	kidney:	n/a	n/a
5	SIN3AK20	chr4:20255463-20255865	PFSK-1	brain:	n/a	n/a
6	CTCF	chr4:20255560-20255710	AG04449	skin:	n/a	n/a
7	POLR2A	chr4:20255540-20256087	PFSK-1	brain:	n/a	n/a
8	CTCF	chr4:20255560-20255710	SK-N-SH_RA	brain:	n/a	n/a
9	SUZ12	chr4:20253936-20257122	NT2-D1	testis:	n/a	n/a
10	POLR2A	chr4:20255492-20255626	K562	blood:	n/a	n/a
11	POLR2A	chr4:20255516-20255613	ProgFib	skin:	n/a	n/a
12	MYC	chr4:20255504-20255628	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr4:20255306-20257223	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:20255367-20257384	H1-neurons	neurons:	n/a	n/a
15	CTBP2	chr4:20254251-20256981	H1-hESC	embryonic stem cell:	n/a	n/a
16	SUZ12	chr4:20254238-20256968	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr4:20255497-20255825	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr4:20255481-20255624	NHEK	skin:	n/a	n/a
19	SIN3A	chr4:20255383-20257101	H1-hESC	embryonic stem cell:	n/a	chr4:20256213-20256226

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:

Variant related genes	Relation type
SLIT2	TF binding region
ENSG00000145147	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
2	chr4:20252400-20256400	Active TSS	Brain Anterior Caudate	brain
3	chr4:20252400-20257000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:20252400-20257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:20252600-20255600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:20252600-20257000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr4:20252600-20257200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:20252600-20257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:20252600-20257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:20252800-20257000	Active TSS	Osteobl	bone
11	chr4:20252800-20258600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:20253000-20256600	Bivalent/Poised TSS	Thymus	Thymus
13	chr4:20253000-20256800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr4:20253000-20257000	Active TSS	Hela-S3	cervix
15	chr4:20253000-20257400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:20253000-20257600	Active TSS	Colon Smooth Muscle	Colon
17	chr4:20253000-20258000	Active TSS	Placenta Amnion	Placenta Amnion
18	chr4:20253000-20259000	Active TSS	Aorta	Aorta
19	chr4:20253200-20256000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:20253200-20256600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:20253200-20256800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:20253200-20256800	Active TSS	NHLF	lung
23	chr4:20253200-20257000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:20253200-20257000	Active TSS	NHEK	skin
25	chr4:20253200-20257600	Active TSS	Brain Angular Gyrus	brain
26	chr4:20253600-20256800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:20253600-20257000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:20253800-20255800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr4:20253800-20256200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:20253800-20256800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:20253800-20257000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr4:20253800-20257200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr4:20253800-20257200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr4:20253800-20257200	Flanking Active TSS	HMEC	breast
35	chr4:20253800-20258400	Flanking Active TSS	HUVEC	blood vessel
36	chr4:20254000-20255800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr4:20254000-20256200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr4:20254000-20256600	Bivalent/Poised TSS	HSMM	muscle
39	chr4:20254000-20256800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr4:20254000-20257000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:20254000-20257000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:20254000-20257000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr4:20254000-20257000	Flanking Active TSS	Pancreas	Pancrea
44	chr4:20254000-20257200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:20254200-20256800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr4:20254200-20256800	Flanking Active TSS	Gastric	stomach
47	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr4:20254200-20257000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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