Variant report

Variant	rs73214058
Chromosome Location	chr4:7946597-7946598
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	HNF4G	chr4:7946330-7946679	HepG2	liver:	n/a	chr4:7946504-7946516 chr4:7946504-7946517 chr4:7946505-7946517 chr4:7946502-7946520 chr4:7946505-7946517 chr4:7946503-7946518 chr4:7946504-7946519
2	HNF4A	chr4:7946291-7946732	HepG2	liver:	n/a	chr4:7946503-7946518 chr4:7946504-7946516 chr4:7946504-7946517 chr4:7946505-7946517 chr4:7946502-7946520 chr4:7946505-7946517 chr4:7946503-7946518
3	HNF4G	chr4:7946293-7946648	HepG2	liver:	n/a	chr4:7946504-7946516 chr4:7946504-7946517 chr4:7946505-7946517 chr4:7946502-7946520 chr4:7946505-7946517 chr4:7946503-7946518 chr4:7946504-7946519
4	FOXA1	chr4:7946255-7946802	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:7946271-7946660	HepG2	liver:	n/a	n/a
6	FOXA1	chr4:7946299-7946724	HepG2	liver:	n/a	n/a
7	FOXA1	chr4:7946370-7946758	HepG2	liver:	n/a	n/a
8	SP1	chr4:7946263-7946697	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:7946339-7946818	HepG2	liver:	n/a	n/a
10	FOXA2	chr4:7946392-7946637	HepG2	liver:	n/a	n/a
11	HNF4A	chr4:7946306-7946623	HepG2	liver:	n/a	chr4:7946503-7946518 chr4:7946504-7946516 chr4:7946504-7946517 chr4:7946505-7946517 chr4:7946502-7946520 chr4:7946505-7946517 chr4:7946503-7946518

No.	Distal block	Cell Line	Cell type
1	chr4:7940292..7942827-chr4:7945120..7947736,2	MCF-7	breast:
2	chr4:7939921..7943801-chr4:7946020..7949690,5	MCF-7	breast:
3	chr4:7946085..7948166-chr4:7952831..7955364,2	MCF-7	breast:

Variant related genes	Relation type
AFAP1	TF binding region
ENSG00000228919	Chromatin interaction
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13115927	1.00[ASN][1000 genomes]
rs13124344	1.00[ASN][1000 genomes]
rs13137881	1.00[ASN][1000 genomes]
rs17770936	1.00[ASN][1000 genomes]
rs34067831	1.00[ASN][1000 genomes]
rs57521485	1.00[ASN][1000 genomes]
rs6852834	1.00[ASN][1000 genomes]
rs73214068	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73798048	0.81[AFR][1000 genomes]
rs7690495	1.00[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
2	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:7942200-7947400	Weak transcription	Fetal Brain Male	brain
6	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:7942600-7947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:7942800-7948000	Weak transcription	Fetal Kidney	kidney
9	chr4:7943200-7947400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:7943200-7947800	Weak transcription	Ovary	ovary
11	chr4:7943600-7950600	Weak transcription	Fetal Heart	heart
12	chr4:7943800-7947400	Weak transcription	Pancreas	Pancrea
13	chr4:7944200-7947800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:7945000-7947600	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:7945400-7947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:7945400-7957400	Weak transcription	Placenta	Placenta
17	chr4:7946200-7946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7946200-7946600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:7946200-7946600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:7946200-7946800	Enhancers	Liver	Liver
21	chr4:7946200-7946800	Enhancers	A549	lung
22	chr4:7946200-7947000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:7946200-7947600	Enhancers	Fetal Intestine Large	intestine
24	chr4:7946200-7948400	Enhancers	Fetal Intestine Small	intestine
25	chr4:7946400-7946600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:7946400-7946600	Enhancers	HepG2	liver
27	chr4:7946400-7947400	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:7946400-7948000	Enhancers	Colon Smooth Muscle	Colon
29	chr4:7946400-7948200	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links