Variant report

Variant	rs13128346
Chromosome Location	chr4:152177531-152177532
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	HNF4A	chr4:152177414-152177560	HepG2	liver:	n/a	chr4:152177476-152177491 chr4:152177472-152177494 chr4:152177476-152177489 chr4:152177477-152177489 chr4:152177477-152177490 chr4:152177477-152177485 chr4:152177476-152177489 chr4:152177476-152177490 chr4:152177477-152177489 chr4:152177476-152177490 chr4:152177475-152177490 chr4:152177475-152177483 chr4:152177476-152177491 chr4:152177474-152177492
2	HNF4A	chr4:152177317-152177552	HepG2	liver:	n/a	chr4:152177476-152177491 chr4:152177472-152177494 chr4:152177476-152177489 chr4:152177477-152177489 chr4:152177477-152177490 chr4:152177477-152177485 chr4:152177476-152177489 chr4:152177476-152177490 chr4:152177477-152177489 chr4:152177476-152177490 chr4:152177475-152177490 chr4:152177475-152177483 chr4:152177476-152177491 chr4:152177474-152177492

Variant related genes	Relation type
ENSG00000249012	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12647331	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649929	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13102005	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112985	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13117723	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13120319	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13126069	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13126943	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13135328	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13137979	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13148086	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13150868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316858	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17590612	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34041707	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36097019	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3990734	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4385037	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66559303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819551	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6846745	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3418115	chr4:152174852-152177850	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152130200-152187800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:152149200-152185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:152156000-152179800	Weak transcription	Fetal Stomach	stomach
5	chr4:152158800-152178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:152158800-152181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:152165400-152189000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:152172200-152178600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:152172200-152183400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:152172200-152184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:152172200-152184000	Weak transcription	Lung	lung
12	chr4:152172800-152190600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:152173000-152184000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:152173400-152180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:152173400-152189400	Weak transcription	Aorta	Aorta
16	chr4:152173800-152198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:152174000-152178800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:152174000-152179600	Weak transcription	Ovary	ovary
19	chr4:152174000-152187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:152174000-152192200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:152174200-152183200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:152174200-152183400	Weak transcription	Right Atrium	heart
23	chr4:152174200-152183600	Weak transcription	Brain Anterior Caudate	brain
24	chr4:152174400-152178800	Weak transcription	Fetal Heart	heart
25	chr4:152174400-152183800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:152174600-152178000	Weak transcription	Pancreas	Pancrea
27	chr4:152174600-152179600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:152174600-152181800	Weak transcription	Left Ventricle	heart
29	chr4:152174600-152182400	Weak transcription	Psoas Muscle	Psoas
30	chr4:152175200-152178800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:152175200-152183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:152176000-152180000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:152176800-152177800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr4:152177000-152177600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:152177200-152177800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:152177200-152178000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:152177200-152178200	Enhancers	Liver	Liver
38	chr4:152177400-152177600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr4:152177400-152177600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:152177400-152177800	Enhancers	Colon Smooth Muscle	Colon
41	chr4:152177400-152177800	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:152177400-152179400	Enhancers	HepG2	liver
43	chr4:152177400-152187600	Weak transcription	Fetal Intestine Large	intestine
44	chr4:152177400-152198200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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