Variant report

Variant	rs57200533
Chromosome Location	chr2:173196378-173196379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10182136	0.90[EUR][1000 genomes]
rs55639081	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998604	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56004424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56011402	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57540835	0.82[ASN][1000 genomes]
rs58198619	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61071477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61286863	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66486916	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6742648	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73018804	0.93[EUR][1000 genomes]
rs73018829	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588553	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7591203	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173193800-173196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:173194000-173197600	Enhancers	Thymus	Thymus
4	chr2:173194800-173197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173195200-173197800	Weak transcription	Fetal Lung	lung
6	chr2:173195200-173199000	Weak transcription	Colonic Mucosa	Colon
7	chr2:173195400-173197200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:173195400-173197200	Weak transcription	Fetal Thymus	thymus
9	chr2:173195400-173197200	Weak transcription	Gastric	stomach
10	chr2:173195400-173197800	Weak transcription	Psoas Muscle	Psoas
11	chr2:173195400-173197800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:173195400-173198000	Weak transcription	Spleen	Spleen
13	chr2:173195400-173199800	Weak transcription	Lung	lung
14	chr2:173195400-173199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
16	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
17	chr2:173195800-173199600	Weak transcription	Stomach Mucosa	stomach
18	chr2:173196000-173196400	Weak transcription	Pancreas	Pancrea
19	chr2:173196000-173198000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:173196000-173199600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:173196200-173197800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:173196200-173197800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:173196200-173198000	Weak transcription	Small Intestine	intestine

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