Variant report

Variant	rs134615
Chromosome Location	chr22:29477692-29477693
allele	A/C
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	chr22:29209731..29211561-chr22:29476992..29478626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction
ENSG00000272858	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs126077	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134566	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134570	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134580	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134581	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134583	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134585	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134587	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134589	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134590	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134591	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134593	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134597	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134611	0.97[ASN][1000 genomes]
rs134614	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134618	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs134627	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134642	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134646	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134647	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134649	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134651	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134652	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134655	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs134662	0.97[ASN][1000 genomes]
rs134665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs134678	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134679	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs134680	0.87[EUR][1000 genomes]
rs134681	0.80[EUR][1000 genomes]
rs134683	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs134684	0.86[EUR][1000 genomes]
rs134686	0.86[EUR][1000 genomes]
rs134688	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs134689	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs134690	0.86[EUR][1000 genomes]
rs134691	0.87[EUR][1000 genomes]
rs1978046	0.88[EUR][1000 genomes]
rs2049937	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049938	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823015	0.85[EUR][1000 genomes]
rs5752870	0.89[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134615	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:66 , 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	chr22:29474000-29478000	Enhancers	NHDF-Ad	bronchial
8	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
9	chr22:29474200-29477800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
11	chr22:29474800-29478200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr22:29474800-29478800	Enhancers	Hela-S3	cervix
13	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
14	chr22:29474800-29480600	Enhancers	Ovary	ovary
15	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
16	chr22:29475200-29479000	Enhancers	Adipose Nuclei	Adipose
17	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:29475400-29477800	Weak transcription	Left Ventricle	heart
20	chr22:29475400-29478400	Weak transcription	Esophagus	oesophagus
21	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
22	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
25	chr22:29475800-29478600	Weak transcription	K562	blood
26	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:29476000-29477800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:29476000-29478800	Enhancers	Brain Germinal Matrix	brain
29	chr22:29476000-29480200	Weak transcription	HSMM	muscle
30	chr22:29476200-29478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:29476200-29478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29476200-29478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:29476200-29479000	Enhancers	Liver	Liver
34	chr22:29476400-29478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr22:29476400-29478400	Enhancers	Dnd41	blood
36	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:29476600-29477800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:29476600-29478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:29476600-29478400	Weak transcription	Colon Smooth Muscle	Colon
41	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
43	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:29476800-29478000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:29476800-29478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:29476800-29479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:29476800-29479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:29476800-29479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:29476800-29480000	Weak transcription	Brain Anterior Caudate	brain
50	chr22:29476800-29480200	Weak transcription	HSMMtube	muscle

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