Variant report

Variant	rs74066258
Chromosome Location	chr12:20817936-20817937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12580616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1399938	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794270	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3809208	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56174957	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59508686	0.81[EUR][1000 genomes]
rs60480171	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61579575	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61623220	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487132	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67017312	0.81[EUR][1000 genomes]
rs72658756	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72658759	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658760	0.81[EUR][1000 genomes]
rs72658761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303066	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7310399	0.81[EUR][1000 genomes]
rs7314545	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240436	0.81[EUR][1000 genomes]
rs73240441	0.81[EUR][1000 genomes]
rs74065151	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065172	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74065173	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74066232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066238	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956705	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960786	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970439	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971656	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975280	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978760	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20812400-20818200	ZNF genes & repeats	Fetal Muscle Leg	muscle
2	chr12:20812600-20819400	Strong transcription	Left Ventricle	heart
3	chr12:20813600-20833000	Weak transcription	Fetal Kidney	kidney
4	chr12:20814600-20834800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20816200-20835600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:20816400-20833000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:20816400-20833200	Weak transcription	Ovary	ovary
8	chr12:20816400-20840000	Weak transcription	Right Ventricle	heart
9	chr12:20816600-20831200	Weak transcription	Aorta	Aorta
10	chr12:20816600-20833800	Weak transcription	Fetal Stomach	stomach
11	chr12:20816800-20834600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:20817000-20818200	Strong transcription	Fetal Intestine Large	intestine
13	chr12:20817000-20820400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:20817000-20834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:20817200-20833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:20817600-20819200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:20817600-20819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:20817600-20822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:20817800-20818400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr12:20817800-20820800	Strong transcription	Hela-S3	cervix

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