Variant report

Variant	rs73162095
Chromosome Location	chr22:33434066-33434067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33433588-33439708	Hela-S3	cervix:
2	22:32740683-32750950..22:33433588-33439708	K562	blood:
3	22:32920308-32927723..22:33433588-33439708	Hela-S3	cervix:
4	22:32578360-32590642..22:33433588-33439708	K562	blood:
5	22:32872511-32874561..22:33433588-33439708	Hela-S3	cervix:
6	22:33190123-33206921..22:33433588-33439708	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000128253	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs137551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs137553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183588	1.00[EUR][1000 genomes]
rs241875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55676703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55718026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55756736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55793030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070943	1.00[EUR][1000 genomes]
rs56151696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56220039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56373657	1.00[AMR][1000 genomes]
rs56377603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73158330	1.00[EUR][1000 genomes]
rs73158350	1.00[EUR][1000 genomes]
rs73162009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162048	1.00[AMR][1000 genomes]
rs73162050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162088	1.00[EUR][1000 genomes]
rs73162092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162096	1.00[AMR][1000 genomes]
rs73162097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164309	1.00[AMR][1000 genomes]
rs73164336	1.00[EUR][1000 genomes]
rs80694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33415000-33434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:33431000-33434400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33431000-33435200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33431800-33434800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr22:33432000-33434200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33432200-33434200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:33432400-33434200	Weak transcription	Brain Anterior Caudate	brain
8	chr22:33432400-33449800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:33433000-33435400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr22:33433200-33434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33433400-33434600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr22:33433400-33434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr22:33433400-33435200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:33433600-33434800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:33433600-33435200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr22:33433600-33435200	Enhancers	Fetal Brain Male	brain
17	chr22:33433800-33434600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr22:33433800-33434600	Enhancers	Brain Angular Gyrus	brain
19	chr22:33433800-33435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:33433800-33435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr22:33434000-33434200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:33434000-33434200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33434000-33434200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr22:33434000-33434200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr22:33434000-33434400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:33434000-33434400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:33434000-33434400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:33434000-33434400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr22:33434000-33434400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:33434000-33434400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:33434000-33434600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33434000-33434600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr22:33434000-33434600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr22:33434000-33434800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:33434000-33435200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:33434000-33435200	Enhancers	Right Atrium	heart
37	chr22:33434000-33435200	Enhancers	HMEC	breast

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