Variant report

Variant	rs73798032
Chromosome Location	chr4:7942783-7942784
allele	C/T
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	ESR1	chr4:7942782-7943189	ECC-1	luminal epithelium:	n/a	n/a
2	PBX3	chr4:7942750-7943434	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr4:7942645-7943600	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr4:7942709-7943468	ECC-1	luminal epithelium:	n/a	n/a
5	USF1	chr4:7942588-7942914	SK-N-SH	brain:	n/a	chr4:7942723-7942734
6	SP1	chr4:7942665-7943535	HCT-116	colon:	n/a	n/a
7	USF1	chr4:7942597-7942893	H1-hESC	embryonic stem cell:	n/a	chr4:7942723-7942734
8	USF1	chr4:7942515-7942926	H1-hESC	embryonic stem cell:	n/a	chr4:7942723-7942734
9	USF1	chr4:7942597-7942854	A549	lung:	n/a	chr4:7942723-7942734
10	MAX	chr4:7942701-7943338	MCF-7	breast:	n/a	n/a
11	NR2F2	chr4:7942670-7943387	MCF-7	breast:	n/a	n/a
12	USF2	chr4:7942595-7942905	Hela-S3	cervix:	n/a	chr4:7942723-7942734
13	GATA3	chr4:7942688-7943385	MCF-7	breast:	n/a	n/a
14	MAX	chr4:7942656-7943891	A549	lung:	n/a	n/a
15	RXRA	chr4:7942772-7943441	SK-N-SH	brain:	n/a	n/a
16	MAX	chr4:7942623-7943342	ECC-1	luminal epithelium:	n/a	n/a
17	USF1	chr4:7942610-7942854	SK-N-SH_RA	brain:	n/a	chr4:7942723-7942734
18	TCF12	chr4:7942546-7943394	ECC-1	luminal epithelium:	n/a	chr4:7943201-7943208
19	NFIC	chr4:7942547-7943542	ECC-1	luminal epithelium:	n/a	n/a
20	TEAD4	chr4:7942735-7943535	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr4:7942590-7942945	ECC-1	luminal epithelium:	n/a	chr4:7942723-7942734
22	USF1	chr4:7942617-7942843	A549	lung:	n/a	chr4:7942723-7942734
23	EP300	chr4:7942782-7943218	MCF-7	breast:	n/a	n/a
24	USF1	chr4:7942548-7942901	A549	lung:	n/a	chr4:7942723-7942734
25	CTCF	chr4:7942680-7942830	GM12867	blood:	n/a	n/a
26	MAX	chr4:7942779-7943606	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr4:7942522-7943006	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr4:7942766-7942787	Hela-S3	cervix:	n/a	n/a
29	USF2	chr4:7942596-7942903	H1-hESC	embryonic stem cell:	n/a	chr4:7942723-7942734
30	USF1	chr4:7942593-7942793	HepG2	liver:	n/a	chr4:7942723-7942734
31	GATA3	chr4:7942635-7943394	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr4:7942775-7943478	MCF-7	breast:	n/a	n/a
33	USF1	chr4:7942539-7942957	SK-N-SH_RA	brain:	n/a	chr4:7942723-7942734
34	RAD21	chr4:7942746-7943333	ECC-1	luminal epithelium:	n/a	n/a
35	NR2F2	chr4:7942710-7943473	MCF-7	breast:	n/a	n/a
36	TCF12	chr4:7942716-7943492	ECC-1	luminal epithelium:	n/a	chr4:7943201-7943208
37	EP300	chr4:7942642-7943632	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73798040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73798044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3370778	chr4:7940277-7942825	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7942800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7941600-7943200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:7941600-7944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
6	chr4:7941800-7943600	Enhancers	Fetal Heart	heart
7	chr4:7942000-7942800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:7942000-7942800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:7942000-7942800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:7942000-7942800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:7942000-7942800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:7942000-7942800	Weak transcription	Gastric	stomach
13	chr4:7942000-7942800	Weak transcription	Lung	lung
14	chr4:7942000-7942800	Weak transcription	Ovary	ovary
15	chr4:7942000-7942800	Enhancers	Hela-S3	cervix
16	chr4:7942000-7943000	Weak transcription	NHLF	lung
17	chr4:7942000-7943200	Enhancers	Esophagus	oesophagus
18	chr4:7942000-7943200	Enhancers	Fetal Muscle Trunk	muscle
19	chr4:7942000-7943200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:7942000-7943200	Enhancers	HSMMtube	muscle
21	chr4:7942000-7943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:7942000-7943400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:7942000-7943400	Enhancers	HMEC	breast
26	chr4:7942000-7943600	Enhancers	Osteobl	bone
27	chr4:7942000-7943800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:7942000-7943800	Enhancers	Adipose Nuclei	Adipose
29	chr4:7942000-7943800	Enhancers	Pancreas	Pancrea
30	chr4:7942000-7943800	Enhancers	Stomach Mucosa	stomach
31	chr4:7942000-7943800	Enhancers	HepG2	liver
32	chr4:7942000-7943800	Enhancers	HSMM	muscle
33	chr4:7942000-7944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7942000-7944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:7942000-7944200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7942000-7944200	Enhancers	Fetal Intestine Large	intestine
37	chr4:7942000-7944200	Enhancers	NHDF-Ad	bronchial
38	chr4:7942000-7944400	Enhancers	Fetal Intestine Small	intestine
39	chr4:7942000-7944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:7942000-7945200	Enhancers	A549	lung
41	chr4:7942000-7945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7942000-7945400	Enhancers	Placenta	Placenta
43	chr4:7942000-7945400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:7942000-7946200	Weak transcription	Liver	Liver
45	chr4:7942000-7946400	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:7942000-7946400	Weak transcription	Fetal Stomach	stomach
47	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:7942200-7942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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