Variant report

Variant	rs134620
Chromosome Location	chr22:29478760-29478761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29473028..29475906-chr22:29476306..29479164,3	K562	blood:
2	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
3	chr22:29467758..29469551-chr22:29478358..29480650,2	K562	blood:
4	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:
5	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs134561	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134567	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134569	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134579	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134594	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134603	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134607	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134609	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134632	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134635	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134637	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134638	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134639	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134645	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs20037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049939	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762980	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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
rs134620	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

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	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
7	chr22:29474800-29478800	Enhancers	Hela-S3	cervix
8	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
9	chr22:29474800-29480600	Enhancers	Ovary	ovary
10	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
11	chr22:29475200-29479000	Enhancers	Adipose Nuclei	Adipose
12	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
15	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
18	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr22:29476000-29478800	Enhancers	Brain Germinal Matrix	brain
20	chr22:29476000-29480200	Weak transcription	HSMM	muscle
21	chr22:29476200-29478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:29476200-29479000	Enhancers	Liver	Liver
23	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
27	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:29476800-29479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:29476800-29479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:29476800-29479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:29476800-29480000	Weak transcription	Brain Anterior Caudate	brain
32	chr22:29476800-29480200	Weak transcription	HSMMtube	muscle
33	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
37	chr22:29477400-29478800	Enhancers	Thymus	Thymus
38	chr22:29477400-29479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:29477600-29478800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:29477600-29478800	Enhancers	Stomach Mucosa	stomach
41	chr22:29477600-29479600	Enhancers	Fetal Kidney	kidney
42	chr22:29477600-29480600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr22:29477800-29478800	Enhancers	Duodenum Mucosa	Duodenum
44	chr22:29477800-29481200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr22:29478000-29478800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr22:29478000-29478800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29478000-29480000	Weak transcription	Fetal Heart	heart
48	chr22:29478000-29480000	Weak transcription	NHDF-Ad	bronchial
49	chr22:29478200-29479600	Weak transcription	Fetal Muscle Leg	muscle
50	chr22:29478200-29480000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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