Variant report

Variant	rs134680
Chromosome Location	chr22:29507471-29507472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs126077	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134566	0.83[EUR][1000 genomes]
rs134570	0.82[EUR][1000 genomes]
rs134581	0.81[EUR][1000 genomes]
rs134583	0.81[EUR][1000 genomes]
rs134585	0.81[EUR][1000 genomes]
rs134587	0.82[EUR][1000 genomes]
rs134589	0.84[EUR][1000 genomes]
rs134590	0.84[EUR][1000 genomes]
rs134591	0.84[EUR][1000 genomes]
rs134597	0.83[EUR][1000 genomes]
rs134614	0.86[EUR][1000 genomes]
rs134615	0.87[EUR][1000 genomes]
rs134627	0.87[EUR][1000 genomes]
rs134642	0.87[EUR][1000 genomes]
rs134646	0.87[EUR][1000 genomes]
rs134647	0.87[EUR][1000 genomes]
rs134649	0.87[EUR][1000 genomes]
rs134651	0.87[EUR][1000 genomes]
rs134652	0.88[EUR][1000 genomes]
rs134655	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs134665	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs134678	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134679	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134681	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134683	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134684	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs134686	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134688	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134689	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134690	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1978046	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2049937	0.87[EUR][1000 genomes]
rs2049938	0.87[EUR][1000 genomes]
rs4823015	0.93[EUR][1000 genomes]
rs5752870	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134680	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
3	chr22:29488400-29521200	Weak transcription	Lung	lung
4	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
7	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
8	chr22:29491600-29522200	Weak transcription	Liver	Liver
9	chr22:29493200-29511600	Weak transcription	Gastric	stomach
10	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
12	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
15	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
16	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
17	chr22:29498800-29509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:29499400-29508000	Weak transcription	Brain Angular Gyrus	brain
19	chr22:29499400-29508000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:29499400-29508000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:29499600-29507800	Weak transcription	Brain Substantia Nigra	brain
22	chr22:29499800-29507800	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:29499800-29509600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:29504800-29521800	Weak transcription	NHEK	skin
25	chr22:29505000-29514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:29505000-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:29505800-29511600	Weak transcription	Small Intestine	intestine
28	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:29506000-29508200	Weak transcription	Fetal Lung	lung
30	chr22:29506000-29509200	Weak transcription	Dnd41	blood
31	chr22:29506000-29514000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:29506000-29521000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:29506200-29512200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:29506400-29507800	Weak transcription	NHDF-Ad	bronchial
35	chr22:29506400-29508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29506400-29508000	Strong transcription	Brain Anterior Caudate	brain
37	chr22:29506400-29508200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29506400-29508200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:29506400-29508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:29506400-29508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:29506400-29508400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:29506400-29509600	Weak transcription	HepG2	liver
43	chr22:29506400-29511400	Weak transcription	Left Ventricle	heart
44	chr22:29506400-29511600	Weak transcription	Ovary	ovary
45	chr22:29506400-29511800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:29506400-29513800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:29506400-29514000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:29506400-29516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:29506400-29516400	Weak transcription	Adipose Nuclei	Adipose
50	chr22:29506400-29516400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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