Variant report

Variant	rs4696825
Chromosome Location	chr4:7943397-7943398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr4:7942750-7943434	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr4:7942645-7943600	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr4:7942709-7943468	ECC-1	luminal epithelium:	n/a	n/a
4	SP1	chr4:7942665-7943535	HCT-116	colon:	n/a	n/a
5	FOS	chr4:7943166-7943426	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr4:7942656-7943891	A549	lung:	n/a	n/a
7	RXRA	chr4:7942772-7943441	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr4:7942869-7943527	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr4:7943133-7943456	HepG2	liver:	n/a	n/a
10	NFIC	chr4:7942547-7943542	ECC-1	luminal epithelium:	n/a	n/a
11	FOSL2	chr4:7943021-7943498	A549	lung:	n/a	n/a
12	TEAD4	chr4:7942735-7943535	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr4:7943186-7943397	Hela-S3	cervix:	n/a	n/a
14	MAX	chr4:7942779-7943606	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr4:7942969-7943453	SK-N-SH	brain:	n/a	n/a
16	SIN3AK20	chr4:7942775-7943478	MCF-7	breast:	n/a	n/a
17	TFAP2C	chr4:7943160-7944319	Hela-S3	cervix:	n/a	chr4:7943614-7943629
18	NR2F2	chr4:7942710-7943473	MCF-7	breast:	n/a	n/a
19	TCF12	chr4:7942716-7943492	ECC-1	luminal epithelium:	n/a	chr4:7943201-7943208
20	EP300	chr4:7942642-7943632	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7900242..7903106-chr4:7943268..7945113,2	MCF-7	breast:
2	chr4:7943385..7945490-chr4:7973996..7976275,2	MCF-7	breast:

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1320069	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814873	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814874	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385911	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385913	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2386056	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235268	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4235269	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4345163	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4385040	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696827	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696834	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5012708	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5012709	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447871	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6816560	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6819776	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7655226	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667982	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681378	0.90[ASN][1000 genomes]
rs7683285	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7685634	0.99[EUR][1000 genomes];0.96[ASN][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	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
4	chr4:7941800-7943600	Enhancers	Fetal Heart	heart
5	chr4:7942000-7943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:7942000-7943400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:7942000-7943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:7942000-7943400	Enhancers	HMEC	breast
10	chr4:7942000-7943600	Enhancers	Osteobl	bone
11	chr4:7942000-7943800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:7942000-7943800	Enhancers	Adipose Nuclei	Adipose
13	chr4:7942000-7943800	Enhancers	Pancreas	Pancrea
14	chr4:7942000-7943800	Enhancers	Stomach Mucosa	stomach
15	chr4:7942000-7943800	Enhancers	HepG2	liver
16	chr4:7942000-7943800	Enhancers	HSMM	muscle
17	chr4:7942000-7944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7942000-7944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:7942000-7944200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7942000-7944200	Enhancers	Fetal Intestine Large	intestine
21	chr4:7942000-7944200	Enhancers	NHDF-Ad	bronchial
22	chr4:7942000-7944400	Enhancers	Fetal Intestine Small	intestine
23	chr4:7942000-7944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:7942000-7945200	Enhancers	A549	lung
25	chr4:7942000-7945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:7942000-7945400	Enhancers	Placenta	Placenta
27	chr4:7942000-7945400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:7942000-7946200	Weak transcription	Liver	Liver
29	chr4:7942000-7946400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:7942000-7946400	Weak transcription	Fetal Stomach	stomach
31	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:7942200-7943400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:7942200-7943400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:7942200-7943600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:7942200-7943800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:7942200-7944000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:7942200-7944000	Enhancers	NHEK	skin
40	chr4:7942200-7944800	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:7942200-7947400	Weak transcription	Fetal Brain Male	brain
42	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:7942600-7943400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:7942600-7943400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:7942600-7943400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:7942600-7943400	Enhancers	Spleen	Spleen
47	chr4:7942600-7943800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:7942600-7944000	Enhancers	Colonic Mucosa	Colon
49	chr4:7942600-7944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:7942600-7944200	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links