Variant report

Variant	rs9684453
Chromosome Location	chr4:144364424-144364425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11725272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11933502	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11936966	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11945261	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512923	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112122	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13112412	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13114896	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13128753	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1397529	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1397530	0.82[EUR][1000 genomes]
rs17017801	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1995931	0.81[ASN][1000 genomes]
rs28776014	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28924075	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28925907	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28925924	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28925926	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28925939	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35152330	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795246	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59727559	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6833624	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6837464	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7696619	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7698825	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9685389	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144327800-144388200	Weak transcription	HepG2	liver
2	chr4:144333000-144364600	Weak transcription	NHEK	skin
3	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
5	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
6	chr4:144347000-144382600	Weak transcription	Gastric	stomach
7	chr4:144351600-144365000	Weak transcription	NHLF	lung
8	chr4:144352400-144382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:144353000-144365400	Weak transcription	Small Intestine	intestine
10	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:144355200-144382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:144356000-144371600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:144357800-144365000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:144358000-144366800	Weak transcription	Thymus	Thymus
17	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:144358400-144384400	Weak transcription	HSMM	muscle
19	chr4:144359800-144364800	Weak transcription	Osteobl	bone
20	chr4:144359800-144366800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:144359800-144382600	Weak transcription	Esophagus	oesophagus
22	chr4:144360000-144365800	Weak transcription	Psoas Muscle	Psoas
23	chr4:144360000-144380600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:144360000-144388400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:144360200-144364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:144360200-144365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:144360200-144366200	Weak transcription	HMEC	breast
28	chr4:144360200-144367200	Weak transcription	Pancreas	Pancrea
29	chr4:144360200-144371600	Weak transcription	Fetal Stomach	stomach
30	chr4:144360200-144380400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:144360200-144382400	Weak transcription	Aorta	Aorta
32	chr4:144360200-144383800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:144360200-144387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:144360600-144376200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:144360800-144365400	Weak transcription	HUVEC	blood vessel
37	chr4:144361600-144365000	Weak transcription	HSMMtube	muscle
38	chr4:144361600-144376200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:144361600-144390400	Weak transcription	K562	blood
40	chr4:144361800-144365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:144361800-144381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:144362000-144365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:144362000-144365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:144362000-144366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:144362000-144372200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:144362000-144373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:144362000-144375600	Weak transcription	Right Ventricle	heart
48	chr4:144362000-144376400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:144362000-144378800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:144362000-144380200	Weak transcription	Adipose Nuclei	Adipose

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