Variant report

Variant	rs73238439
Chromosome Location	chr12:20812668-20812669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12319897	1.00[AMR][1000 genomes]
rs12322107	1.00[AMR][1000 genomes]
rs4128682	1.00[AMR][1000 genomes]
rs58500193	1.00[AMR][1000 genomes]
rs73238434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73238452	1.00[AMR][1000 genomes]
rs73240404	1.00[AMR][1000 genomes]
rs73240410	1.00[AMR][1000 genomes]
rs73240412	1.00[AMR][1000 genomes]
rs73240420	1.00[AMR][1000 genomes]
rs7954835	1.00[AMR][1000 genomes]
rs7974376	1.00[AMR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
2	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose
3	chr12:20780600-20812800	Weak transcription	Small Intestine	intestine
4	chr12:20784800-20816000	Weak transcription	Osteobl	bone
5	chr12:20799600-20813000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:20800200-20812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:20808600-20812800	Weak transcription	Fetal Stomach	stomach
8	chr12:20808800-20813000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:20808800-20815800	Weak transcription	Right Ventricle	heart
10	chr12:20809000-20813000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:20809000-20814400	Weak transcription	Aorta	Aorta
12	chr12:20809000-20814400	Weak transcription	Pancreas	Pancrea
13	chr12:20809200-20812800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:20809400-20812800	Weak transcription	Fetal Kidney	kidney
15	chr12:20810000-20814200	Weak transcription	HUVEC	blood vessel
16	chr12:20810800-20812800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:20811000-20813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:20811600-20813000	Weak transcription	Ovary	ovary
19	chr12:20811800-20813000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:20812200-20817000	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr12:20812400-20816400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr12:20812400-20817200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr12:20812400-20818200	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr12:20812600-20813400	ZNF genes & repeats	A549	lung
25	chr12:20812600-20813600	ZNF genes & repeats	Hela-S3	cervix
26	chr12:20812600-20813800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
27	chr12:20812600-20814000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:20812600-20815800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr12:20812600-20817000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:20812600-20817000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr12:20812600-20817200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr12:20812600-20817600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:20812600-20817800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr12:20812600-20819400	Strong transcription	Left Ventricle	heart

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