Variant report

Variant	rs60207395
Chromosome Location	chr22:33012372-33012373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16990831	0.88[ASN][1000 genomes]
rs16990849	0.97[ASN][1000 genomes]
rs1970783	0.85[ASN][1000 genomes]
rs2003815	0.85[ASN][1000 genomes]
rs2858743	0.83[ASN][1000 genomes]
rs28835002	0.85[ASN][1000 genomes]
rs5749472	0.95[ASN][1000 genomes]
rs5754167	0.85[ASN][1000 genomes]
rs5754171	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754172	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5754173	0.96[ASN][1000 genomes]
rs5754174	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58377860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61110043	0.93[ASN][1000 genomes]
rs73154345	0.93[ASN][1000 genomes]
rs73154346	0.95[ASN][1000 genomes]
rs762968	0.85[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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33004000-33012600	Weak transcription	Fetal Lung	lung
2	chr22:33010200-33012400	Weak transcription	Spleen	Spleen
3	chr22:33010400-33013000	Weak transcription	Fetal Kidney	kidney
4	chr22:33010400-33017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:33011400-33015800	Enhancers	Fetal Stomach	stomach
6	chr22:33011600-33012400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:33011600-33012600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr22:33011600-33012600	Enhancers	Placenta	Placenta
9	chr22:33011600-33015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:33011600-33015200	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:33011600-33015200	Enhancers	Fetal Muscle Leg	muscle
12	chr22:33011800-33012400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:33011800-33012600	Enhancers	Fetal Heart	heart
14	chr22:33011800-33012600	Enhancers	Lung	lung
15	chr22:33011800-33012600	Enhancers	Right Atrium	heart
16	chr22:33011800-33012800	Flanking Active TSS	HepG2	liver
17	chr22:33011800-33013000	Enhancers	Left Ventricle	heart
18	chr22:33011800-33014400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr22:33011800-33015200	Weak transcription	Hela-S3	cervix
20	chr22:33012000-33012400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:33012000-33016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:33012200-33012800	Weak transcription	Esophagus	oesophagus
23	chr22:33012200-33012800	Weak transcription	Right Ventricle	heart
24	chr22:33012200-33013400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:33012200-33013400	Weak transcription	Small Intestine	intestine
26	chr22:33012200-33013800	Weak transcription	Psoas Muscle	Psoas
27	chr22:33012200-33014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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