Variant report

Variant	rs2049937
Chromosome Location	chr22:29483780-29483781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs126077	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134570	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134580	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134581	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134583	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134585	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134587	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134589	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134590	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134591	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134593	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134597	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134611	0.97[ASN][1000 genomes]
rs134614	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134615	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134618	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134627	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134652	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134655	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134661	0.97[ASN][1000 genomes]
rs134662	0.97[ASN][1000 genomes]
rs134665	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134678	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134679	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs134680	0.87[EUR][1000 genomes]
rs134681	0.81[EUR][1000 genomes]
rs134683	0.87[EUR][1000 genomes]
rs134684	0.86[EUR][1000 genomes]
rs134686	0.86[EUR][1000 genomes]
rs134688	0.87[EUR][1000 genomes]
rs134689	0.87[EUR][1000 genomes]
rs134690	0.87[EUR][1000 genomes]
rs134691	0.87[EUR][1000 genomes]
rs1978046	0.88[EUR][1000 genomes]
rs2049938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823015	0.85[EUR][1000 genomes]
rs5752870	0.83[AMR][1000 genomes];0.83[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
rs2049937	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
3	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
4	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
8	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
11	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
16	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
17	chr22:29478800-29485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:29478800-29485600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:29478800-29485800	Weak transcription	Fetal Stomach	stomach
20	chr22:29478800-29489600	Weak transcription	Dnd41	blood
21	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
22	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
23	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
24	chr22:29480400-29485400	Weak transcription	Brain Anterior Caudate	brain
25	chr22:29480400-29488000	Weak transcription	Fetal Thymus	thymus
26	chr22:29480600-29484400	Weak transcription	K562	blood
27	chr22:29480600-29484800	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:29480600-29484800	Weak transcription	Ovary	ovary
29	chr22:29480600-29485200	Weak transcription	Left Ventricle	heart
30	chr22:29480600-29487400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:29480800-29487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:29481000-29485000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:29481400-29484200	Weak transcription	Fetal Lung	lung
37	chr22:29481600-29485800	Weak transcription	Fetal Brain Female	brain
38	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:29483600-29484400	Enhancers	Fetal Brain Male	brain

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