Variant report

Variant	rs134630
Chromosome Location	chr22:29480742-29480743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:
2	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:
3	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs134561	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134564	1.00[JPT][hapmap]
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]
rs134592	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134594	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134596	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs134599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134603	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134605	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134607	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134609	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134626	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134632	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134635	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134636	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134637	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134638	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134639	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134641	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs134645	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134653	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134657	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134666	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134669	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134672	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs134676	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134677	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs20037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049939	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762980	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713861	1.00[CEU][hapmap];1.00[JPT][hapmap]
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
rs134630	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:45 , 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	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
12	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
15	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
20	chr22:29477800-29481200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr22:29478400-29480800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr22:29478600-29480800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:29478600-29480800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
25	chr22:29478800-29485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:29478800-29485600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:29478800-29485800	Weak transcription	Fetal Stomach	stomach
28	chr22:29478800-29489600	Weak transcription	Dnd41	blood
29	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
30	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
31	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
32	chr22:29480000-29480800	Enhancers	NHDF-Ad	bronchial
33	chr22:29480000-29481000	Enhancers	Fetal Brain Female	brain
34	chr22:29480400-29480800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr22:29480400-29481600	Weak transcription	Fetal Brain Male	brain
36	chr22:29480400-29485400	Weak transcription	Brain Anterior Caudate	brain
37	chr22:29480400-29488000	Weak transcription	Fetal Thymus	thymus
38	chr22:29480600-29482400	Weak transcription	Small Intestine	intestine
39	chr22:29480600-29484400	Weak transcription	K562	blood
40	chr22:29480600-29484800	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:29480600-29484800	Weak transcription	Ovary	ovary
42	chr22:29480600-29485200	Weak transcription	Left Ventricle	heart
43	chr22:29480600-29487400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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