Variant report

Variant	rs73882405
Chromosome Location	chr22:29336994-29336995
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	chr22:29332231..29334141-chr22:29336540..29338393,2	K562	blood:

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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57119189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57188271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs58089713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162235	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60747358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs61581392	0.92[AFR][1000 genomes];1.00[AMR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[AMR][1000 genomes];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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29321000-29339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr22:29328200-29338000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:29329400-29339000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:29329800-29338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:29331400-29338800	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:29331400-29339200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr22:29331400-29339400	Weak transcription	Right Atrium	heart
9	chr22:29331400-29341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:29331600-29339000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:29331600-29339200	Weak transcription	Pancreas	Pancrea
12	chr22:29331600-29339200	Weak transcription	Psoas Muscle	Psoas
13	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
14	chr22:29332600-29338200	Weak transcription	Brain Anterior Caudate	brain
15	chr22:29332600-29339600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:29333400-29338200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29333800-29338400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:29333800-29338600	Weak transcription	Aorta	Aorta
20	chr22:29333800-29339200	Weak transcription	Lung	lung
21	chr22:29333800-29347800	Weak transcription	Gastric	stomach
22	chr22:29334400-29337400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:29334400-29340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29334600-29338600	Weak transcription	Stomach Mucosa	stomach
25	chr22:29334600-29342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:29334800-29337200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:29334800-29340000	Enhancers	HepG2	liver
28	chr22:29335000-29338800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:29335000-29339400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29335200-29337000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr22:29335200-29337400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr22:29335400-29337000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:29335400-29337200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:29335400-29337400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:29335400-29339400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:29335400-29340000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:29335400-29340000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr22:29335600-29337000	Enhancers	Liver	Liver
39	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:29336000-29337200	Enhancers	Colon Smooth Muscle	Colon
41	chr22:29336000-29337200	Enhancers	Small Intestine	intestine
42	chr22:29336000-29339800	Enhancers	Fetal Intestine Large	intestine
43	chr22:29336000-29339800	Enhancers	Fetal Intestine Small	intestine
44	chr22:29336200-29337000	Enhancers	Fetal Kidney	kidney
45	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr22:29336400-29337200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:29336400-29338400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:29336400-29339000	Weak transcription	Ovary	ovary
49	chr22:29336400-29339000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr22:29336600-29337000	Enhancers	A549	lung

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