Variant report

Variant	rs134629
Chromosome Location	chr22:29480400-29480401
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
2	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:
3	chr22:29467758..29469551-chr22:29478358..29480650,2	K562	blood:
4	chr22:29478442..29480805-chr22:29482878..29485430,2	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	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134567	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134569	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134579	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134594	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];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];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134603	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];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];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134626	0.92[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134632	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134635	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs20037	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049939	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];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
rs134629	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:68 , 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	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
18	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:29476800-29485400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:29477000-29485400	Weak transcription	Right Atrium	heart
23	chr22:29477600-29480600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:29477800-29481200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:29478400-29480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr22:29478400-29480800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:29478600-29480600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:29478600-29480600	Enhancers	K562	blood
29	chr22:29478600-29480800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:29478600-29480800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
32	chr22:29478800-29480400	Enhancers	Fetal Thymus	thymus
33	chr22:29478800-29485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:29478800-29485600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:29478800-29485800	Weak transcription	Fetal Stomach	stomach
36	chr22:29478800-29489600	Weak transcription	Dnd41	blood
37	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
38	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
39	chr22:29479400-29480600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr22:29479600-29480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:29479600-29480600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29479600-29480600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr22:29479600-29480600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:29479600-29480600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:29479600-29480600	Enhancers	Fetal Muscle Leg	muscle
46	chr22:29479600-29480600	Enhancers	GM12878-XiMat	blood
47	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
48	chr22:29479800-29480400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr22:29479800-29480600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:29480000-29480400	Enhancers	Cortex derived primary cultured neurospheres	brain

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