Variant report

Variant	rs5997430
Chromosome Location	chr22:29418209-29418210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12484832	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12485244	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs132565	0.81[EUR][1000 genomes]
rs17440734	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1977047	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1983553	0.83[EUR][1000 genomes]
rs2064084	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072774	0.85[EUR][1000 genomes]
rs2103544	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2347789	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347790	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28541979	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4140643	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4333023	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4404379	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4594553	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4616575	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs469994	0.81[EUR][1000 genomes]
rs4820794	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4823002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997432	0.83[EUR][1000 genomes]
rs5997433	0.81[EUR][1000 genomes]
rs5997434	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997435	0.90[EUR][1000 genomes]
rs6005955	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005956	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005958	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005964	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005965	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6005967	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs713834	0.91[EUR][1000 genomes]
rs727892	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7284304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7287517	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs738246	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8137254	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8137499	0.81[EUR][1000 genomes]
rs8142591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874915	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874917	0.85[EUR][1000 genomes]
rs9608719	0.90[EUR][1000 genomes]
rs9608721	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9613771	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9613776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613777	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613784	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9613785	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs964589	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[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:50 , 50 per page) page: 1

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	chr22:29411000-29418400	Weak transcription	Right Ventricle	heart
14	chr22:29411000-29418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
17	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:29412400-29419400	Weak transcription	K562	blood
19	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach
22	chr22:29414200-29419000	Weak transcription	Fetal Lung	lung
23	chr22:29415200-29419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:29415200-29419400	Weak transcription	Esophagus	oesophagus
25	chr22:29415200-29422000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
28	chr22:29416600-29419600	Weak transcription	Small Intestine	intestine
29	chr22:29417000-29418400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:29417200-29420800	Enhancers	Fetal Intestine Small	intestine
31	chr22:29417200-29421000	Enhancers	Fetal Intestine Large	intestine
32	chr22:29417600-29419200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:29417600-29420600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr22:29417800-29418600	Flanking Active TSS	Liver	Liver
35	chr22:29417800-29419000	Flanking Active TSS	HepG2	liver
36	chr22:29417800-29420000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr22:29417800-29420000	Enhancers	Pancreas	Pancrea
38	chr22:29418000-29418400	Flanking Active TSS	Fetal Kidney	kidney
39	chr22:29418000-29418600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:29418000-29418600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:29418000-29419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:29418000-29419800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr22:29418200-29418600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:29418200-29418600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr22:29418200-29418600	Active TSS	A549	lung
46	chr22:29418200-29419200	Weak transcription	Fetal Heart	heart
47	chr22:29418200-29420000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr22:29418200-29420000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:29418200-29420000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr22:29418200-29420800	Enhancers	Duodenum Mucosa	Duodenum

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