Variant report

Variant	rs134613
Chromosome Location	chr22:29477384-29477385
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: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs134561	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134567	0.83[EUR][1000 genomes]
rs134569	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134579	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134594	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134599	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134600	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134601	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134602	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134603	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134604	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134605	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134607	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134609	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134623	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134625	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134626	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134629	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134632	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134635	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134637	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134638	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134639	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134645	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs20037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2049939	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762980	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs783	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][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
rs134613	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	chr22:29470000-29477600	Weak transcription	Aorta	Aorta
2	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29470600-29478400	Weak transcription	Gastric	stomach
4	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
5	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
6	chr22:29472200-29477600	Weak transcription	HepG2	liver
7	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
8	chr22:29473200-29481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:29473400-29477600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:29474000-29478000	Enhancers	NHDF-Ad	bronchial
11	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
12	chr22:29474200-29477800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
14	chr22:29474800-29478200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:29474800-29478800	Enhancers	Hela-S3	cervix
16	chr22:29474800-29480400	Enhancers	Fetal Brain Male	brain
17	chr22:29474800-29480600	Enhancers	Ovary	ovary
18	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:29475200-29479000	Enhancers	Adipose Nuclei	Adipose
20	chr22:29475200-29480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29475200-29481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:29475400-29477400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:29475400-29477400	Weak transcription	Fetal Heart	heart
24	chr22:29475400-29477800	Weak transcription	Left Ventricle	heart
25	chr22:29475400-29478400	Weak transcription	Esophagus	oesophagus
26	chr22:29475600-29477600	Weak transcription	Stomach Mucosa	stomach
27	chr22:29475600-29480400	Weak transcription	Small Intestine	intestine
28	chr22:29475600-29485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
31	chr22:29475800-29478600	Weak transcription	K562	blood
32	chr22:29475800-29479800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr22:29476000-29477800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr22:29476000-29478800	Enhancers	Brain Germinal Matrix	brain
35	chr22:29476000-29480200	Weak transcription	HSMM	muscle
36	chr22:29476200-29478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29476200-29478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29476200-29478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr22:29476200-29479000	Enhancers	Liver	Liver
40	chr22:29476400-29478000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:29476400-29478400	Enhancers	Dnd41	blood
42	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
43	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29476600-29477600	Weak transcription	Fetal Kidney	kidney
45	chr22:29476600-29477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr22:29476600-29477800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:29476600-29478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr22:29476600-29478400	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:29476600-29479600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas

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