Variant report

Variant	rs4594553
Chromosome Location	chr22:29406055-29406056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29404563..29408060-chr22:29409696..29411797,4	K562	blood:
2	chr22:29405475..29407089-chr22:29407777..29410693,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12484832	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12485244	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17440734	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1977047	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064084	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2103544	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347789	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2347790	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140643	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4333023	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4404379	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4616575	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4823002	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997430	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997431	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997434	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6005955	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005956	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005958	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6005959	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005964	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6005967	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66905312	0.81[AMR][1000 genomes]
rs727892	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7284304	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7287517	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs738246	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8137254	0.80[ASN][1000 genomes]
rs8142591	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs874915	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874916	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608719	0.86[EUR][1000 genomes]
rs9613768	0.81[AMR][1000 genomes]
rs9613771	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9613776	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613777	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9613778	0.81[AMR][1000 genomes]
rs9613785	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs964589	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29412000	Weak transcription	A549	lung
2	chr22:29400600-29425400	Weak transcription	NHEK	skin
3	chr22:29401200-29413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29401400-29407200	Weak transcription	Right Atrium	heart
5	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
6	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:29401600-29407000	Weak transcription	Brain Germinal Matrix	brain
9	chr22:29401600-29407000	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:29401600-29407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29401600-29407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:29401800-29406400	Weak transcription	Brain Substantia Nigra	brain
13	chr22:29401800-29406400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:29401800-29407000	Weak transcription	Fetal Lung	lung
15	chr22:29401800-29407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:29401800-29407200	Weak transcription	Liver	Liver
17	chr22:29401800-29407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:29401800-29407200	Weak transcription	Fetal Stomach	stomach
19	chr22:29401800-29407200	Weak transcription	Lung	lung
20	chr22:29401800-29407200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:29401800-29407200	Weak transcription	Right Ventricle	heart
22	chr22:29401800-29408200	Weak transcription	Brain Angular Gyrus	brain
23	chr22:29401800-29408200	Weak transcription	Brain Anterior Caudate	brain
24	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:29402000-29407200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29402200-29407200	Weak transcription	Placenta	Placenta
27	chr22:29402600-29407200	Weak transcription	Gastric	stomach
28	chr22:29402600-29412000	Weak transcription	Pancreas	Pancrea
29	chr22:29402800-29411400	Genic enhancers	HepG2	liver
30	chr22:29403000-29407200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:29403200-29407000	Weak transcription	Fetal Intestine Small	intestine
32	chr22:29403400-29406400	Weak transcription	Fetal Kidney	kidney
33	chr22:29403400-29406600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:29403600-29406600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:29404600-29408200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:29404800-29411000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr22:29405200-29406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29405200-29406800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:29405200-29407000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:29405200-29407000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr22:29405200-29407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:29405200-29418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:29405400-29406800	Weak transcription	Left Ventricle	heart
44	chr22:29405400-29407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr22:29405400-29407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:29405400-29407200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:29405400-29407200	Weak transcription	Psoas Muscle	Psoas
48	chr22:29405400-29407400	Weak transcription	Aorta	Aorta
49	chr22:29405400-29407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:29405400-29407800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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