Variant report

Variant	rs134618
Chromosome Location	chr22:29478256-29478257
allele	A/G
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	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:
4	chr22:29209731..29211561-chr22:29476992..29478626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272858	Chromatin interaction
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs134566	0.89[ASN][1000 genomes]
rs134570	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs134580	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134581	0.95[ASN][1000 genomes]
rs134583	0.95[ASN][1000 genomes]
rs134585	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134587	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs134589	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134590	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134591	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134593	0.95[ASN][1000 genomes]
rs134597	0.95[ASN][1000 genomes]
rs134611	0.95[ASN][1000 genomes]
rs134614	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134615	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134627	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134642	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134646	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134647	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134649	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134651	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134652	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134655	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134661	0.95[ASN][1000 genomes]
rs134662	0.95[ASN][1000 genomes]
rs134665	0.85[AMR][1000 genomes]
rs2049937	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2049938	0.91[AMR][1000 genomes];0.97[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
rs134618	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:63 , 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	chr22:29470600-29478400	Weak transcription	Gastric	stomach
3	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
4	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
5	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29473200-29481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
8	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
9	chr22:29474800-29478800	Enhancers	Hela-S3	cervix
10	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
11	chr22:29474800-29480600	Enhancers	Ovary	ovary
12	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
13	chr22:29475200-29479000	Enhancers	Adipose Nuclei	Adipose
14	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:29475400-29478400	Weak transcription	Esophagus	oesophagus
17	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
18	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
21	chr22:29475800-29478600	Weak transcription	K562	blood
22	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:29476000-29478800	Enhancers	Brain Germinal Matrix	brain
24	chr22:29476000-29480200	Weak transcription	HSMM	muscle
25	chr22:29476200-29478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29476200-29478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:29476200-29478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29476200-29479000	Enhancers	Liver	Liver
29	chr22:29476400-29478400	Enhancers	Dnd41	blood
30	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29476600-29478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr22:29476600-29478400	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
36	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:29476800-29478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:29476800-29479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:29476800-29479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:29476800-29479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:29476800-29480000	Weak transcription	Brain Anterior Caudate	brain
42	chr22:29476800-29480200	Weak transcription	HSMMtube	muscle
43	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
47	chr22:29477400-29478800	Enhancers	Thymus	Thymus
48	chr22:29477400-29479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:29477600-29478800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr22:29477600-29478800	Enhancers	Stomach Mucosa	stomach

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