Variant report

Variant	rs13128753
Chromosome Location	chr4:144357889-144357890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11725272	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11933502	0.81[EUR][1000 genomes]
rs11936966	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11945261	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12512923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13112412	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13114896	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1397529	0.80[TSI][hapmap]
rs17017801	0.85[JPT][hapmap]
rs1995931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28776014	0.80[EUR][1000 genomes]
rs28925907	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28925926	0.80[EUR][1000 genomes]
rs28925939	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35152330	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3795246	0.81[EUR][1000 genomes]
rs4690785	0.85[CEU][hapmap];0.88[CHD][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59727559	0.80[EUR][1000 genomes]
rs6833624	0.80[EUR][1000 genomes]
rs6837464	0.83[ASN][1000 genomes]
rs7696619	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7698825	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9684453	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
5	chr4:144329000-144359400	Weak transcription	K562	blood
6	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
7	chr4:144332800-144359200	Weak transcription	HMEC	breast
8	chr4:144333000-144358800	Weak transcription	Right Ventricle	heart
9	chr4:144333000-144364600	Weak transcription	NHEK	skin
10	chr4:144333400-144359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:144333400-144362400	Weak transcription	NH-A	brain
12	chr4:144333600-144359800	Weak transcription	HSMMtube	muscle
13	chr4:144334000-144359400	Weak transcription	HUVEC	blood vessel
14	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:144338600-144359200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
17	chr4:144339600-144359400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:144340000-144359400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:144341800-144359400	Weak transcription	Psoas Muscle	Psoas
20	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
21	chr4:144342600-144359200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:144342600-144359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
24	chr4:144345600-144359200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:144347000-144359200	Weak transcription	Lung	lung
26	chr4:144347000-144359200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:144347000-144359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:144347000-144359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:144347000-144382600	Weak transcription	Gastric	stomach
30	chr4:144349400-144359200	Weak transcription	Aorta	Aorta
31	chr4:144351200-144359400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:144351400-144359200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:144351400-144359200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:144351600-144365000	Weak transcription	NHLF	lung
35	chr4:144352400-144359000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:144352400-144382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:144352800-144359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:144353000-144365400	Weak transcription	Small Intestine	intestine
39	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
40	chr4:144353400-144359000	Weak transcription	Fetal Stomach	stomach
41	chr4:144353600-144359200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:144353600-144359200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:144353600-144361200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:144353600-144363000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:144354600-144364000	Strong transcription	Primary B cells from cord blood	blood
47	chr4:144355200-144358800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:144355200-144359200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:144355200-144359200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:144355200-144361400	Weak transcription	Brain Angular Gyrus	brain

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