Variant report

Variant	rs134622
Chromosome Location	chr22:29479090-29479091
allele	G/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	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:
4	chr22:29467758..29469551-chr22:29478358..29480650,2	K562	blood:
5	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:
6	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

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

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

rs_ID	r²[population]
rs12329960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134564	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134577	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134588	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134592	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134596	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134598	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134608	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134631	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134636	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134641	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134644	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134653	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134660	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134666	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134670	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134672	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134676	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134677	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4347951	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5752864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs713861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7292708	0.89[EUR][1000 genomes];0.80[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
rs134622	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:60 , 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	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
7	chr22:29474800-29480600	Enhancers	Ovary	ovary
8	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
9	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
12	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
15	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:29476000-29480200	Weak transcription	HSMM	muscle
17	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
21	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:29476800-29479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29476800-29479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:29476800-29479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:29476800-29480000	Weak transcription	Brain Anterior Caudate	brain
26	chr22:29476800-29480200	Weak transcription	HSMMtube	muscle
27	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
31	chr22:29477400-29479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:29477600-29479600	Enhancers	Fetal Kidney	kidney
33	chr22:29477600-29480600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr22:29477800-29481200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr22:29478000-29480000	Weak transcription	Fetal Heart	heart
36	chr22:29478000-29480000	Weak transcription	NHDF-Ad	bronchial
37	chr22:29478200-29479600	Weak transcription	Fetal Muscle Leg	muscle
38	chr22:29478200-29480000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr22:29478400-29479200	Enhancers	GM12878-XiMat	blood
40	chr22:29478400-29480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:29478400-29480800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr22:29478600-29480200	Weak transcription	Left Ventricle	heart
43	chr22:29478600-29480600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr22:29478600-29480600	Enhancers	K562	blood
45	chr22:29478600-29480800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr22:29478600-29480800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
48	chr22:29478800-29479800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:29478800-29479800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:29478800-29480000	Weak transcription	Fetal Brain Female	brain

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