Variant report

Variant	rs134631
Chromosome Location	chr22:29480946-29480947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12329960	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134564	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134577	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134588	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134592	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134596	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134598	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134608	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134622	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134641	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134644	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134653	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134657	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134660	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134666	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134669	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134670	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134672	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134676	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134677	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4347951	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5752864	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713861	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292708	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv519517	chr22:29477841-29482221	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134631	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:41 , 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	chr22:29473200-29481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
6	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
7	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
11	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
14	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
19	chr22:29477800-29481200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
21	chr22:29478800-29485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr22:29478800-29485600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:29478800-29485800	Weak transcription	Fetal Stomach	stomach
24	chr22:29478800-29489600	Weak transcription	Dnd41	blood
25	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
26	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
28	chr22:29480000-29481000	Enhancers	Fetal Brain Female	brain
29	chr22:29480400-29481600	Weak transcription	Fetal Brain Male	brain
30	chr22:29480400-29485400	Weak transcription	Brain Anterior Caudate	brain
31	chr22:29480400-29488000	Weak transcription	Fetal Thymus	thymus
32	chr22:29480600-29482400	Weak transcription	Small Intestine	intestine
33	chr22:29480600-29484400	Weak transcription	K562	blood
34	chr22:29480600-29484800	Weak transcription	Fetal Muscle Leg	muscle
35	chr22:29480600-29484800	Weak transcription	Ovary	ovary
36	chr22:29480600-29485200	Weak transcription	Left Ventricle	heart
37	chr22:29480600-29487400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:29480800-29487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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