Variant report

Variant	rs5997432
Chromosome Location	chr22:29419062-29419063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12484832	0.82[ASN][1000 genomes]
rs132565	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17440734	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1883197	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1983553	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064084	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2072774	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28541979	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140643	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4580479	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs469994	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820794	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823002	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4823003	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823005	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997430	0.83[EUR][1000 genomes]
rs5997431	0.85[EUR][1000 genomes]
rs5997433	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997434	0.82[EUR][1000 genomes]
rs5997435	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6005954	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6005958	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6005959	0.85[EUR][1000 genomes]
rs6005964	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6005965	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs713834	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727892	0.82[ASN][1000 genomes]
rs7284304	0.85[EUR][1000 genomes]
rs7290304	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs738246	0.80[ASN][1000 genomes]
rs8137254	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8137499	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8142591	0.81[EUR][1000 genomes]
rs874916	0.81[EUR][1000 genomes]
rs874917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608719	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9608721	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613776	0.84[EUR][1000 genomes]
rs9613777	0.82[EUR][1000 genomes]
rs9613784	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613785	0.82[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
7	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
12	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
13	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
15	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr22:29412400-29419400	Weak transcription	K562	blood
17	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach
20	chr22:29415200-29419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29415200-29419400	Weak transcription	Esophagus	oesophagus
22	chr22:29415200-29422000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
25	chr22:29416600-29419600	Weak transcription	Small Intestine	intestine
26	chr22:29417200-29420800	Enhancers	Fetal Intestine Small	intestine
27	chr22:29417200-29421000	Enhancers	Fetal Intestine Large	intestine
28	chr22:29417600-29419200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:29417600-29420600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr22:29417800-29420000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr22:29417800-29420000	Enhancers	Pancreas	Pancrea
32	chr22:29418000-29419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:29418000-29419800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr22:29418200-29419200	Weak transcription	Fetal Heart	heart
35	chr22:29418200-29420000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr22:29418200-29420000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:29418200-29420000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr22:29418200-29420800	Enhancers	Duodenum Mucosa	Duodenum
39	chr22:29418400-29420000	Enhancers	Right Ventricle	heart
40	chr22:29418400-29420400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr22:29418400-29420800	Enhancers	Fetal Kidney	kidney
42	chr22:29418600-29419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:29418600-29419400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr22:29418600-29419600	Flanking Active TSS	A549	lung
45	chr22:29418600-29420600	Enhancers	Liver	Liver
46	chr22:29418600-29422600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:29418800-29419600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr22:29418800-29420800	Enhancers	Adipose Nuclei	Adipose
49	chr22:29419000-29419600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:29419000-29419800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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