Variant report

Variant	rs60003056
Chromosome Location	chr22:29351997-29351998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11912894	1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[EUR][1000 genomes]
rs55665300	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55945584	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57119189	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57188271	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs58089713	1.00[EUR][1000 genomes]
rs58162235	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60747358	1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs61581392	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs722590	1.00[EUR][1000 genomes]
rs7287244	1.00[EUR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73882405	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73882406	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	1.00[EUR][1000 genomes]
rs73882445	1.00[EUR][1000 genomes]
rs73882447	1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]
rs8138963	1.00[EUR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
2	chr22:29346400-29353800	Weak transcription	NHEK	skin
3	chr22:29346400-29357400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29346600-29352800	Weak transcription	Brain Substantia Nigra	brain
5	chr22:29347600-29356200	Weak transcription	Brain Germinal Matrix	brain
6	chr22:29348000-29352400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:29348200-29352000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:29348200-29353800	Enhancers	Colon Smooth Muscle	Colon
9	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:29348400-29352400	Weak transcription	Brain Angular Gyrus	brain
11	chr22:29348400-29352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:29348800-29360400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:29349000-29352000	Weak transcription	Brain Anterior Caudate	brain
14	chr22:29349200-29352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29349200-29352000	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:29349200-29352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:29349200-29352400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:29349200-29356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:29349200-29371800	Weak transcription	HSMM	muscle
22	chr22:29349400-29352600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:29349400-29354400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:29349400-29354600	Weak transcription	Adipose Nuclei	Adipose
25	chr22:29349400-29357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:29349400-29357400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:29349400-29357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:29349600-29352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:29349600-29352400	Weak transcription	Hela-S3	cervix
30	chr22:29349600-29352600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:29349600-29354400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:29349600-29354400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29349600-29354800	Weak transcription	A549	lung
34	chr22:29349600-29357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:29349600-29359600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:29349800-29360400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:29350000-29352800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:29350000-29354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:29350000-29354400	Weak transcription	Esophagus	oesophagus
40	chr22:29350000-29354400	Weak transcription	Left Ventricle	heart
41	chr22:29350000-29358400	Weak transcription	Fetal Lung	lung
42	chr22:29350000-29363000	Weak transcription	Liver	Liver
43	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
44	chr22:29350200-29352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:29350200-29354400	Weak transcription	Fetal Kidney	kidney
46	chr22:29350200-29357800	Weak transcription	K562	blood
47	chr22:29350400-29352400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:29350400-29352400	Weak transcription	Fetal Intestine Large	intestine
49	chr22:29350400-29352600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:29350400-29354200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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