Variant report

Variant	rs134608
Chromosome Location	chr22:29475209-29475210
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29467730..29470328-chr22:29471275..29475318,5	MCF-7	breast:
2	chr22:29472899..29476008-chr22:29545567..29548841,3	K562	blood:
3	chr22:29473028..29475906-chr22:29476306..29479164,3	K562	blood:
4	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
5	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:
6	chr22:29468759..29472308-chr22:29473685..29477058,4	MCF-7	breast:
7	chr22:29473292..29476167-chr22:29497836..29499455,2	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12329960	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134564	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134577	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134588	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134592	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134596	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134598	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134622	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134631	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134636	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134641	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134644	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134657	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134660	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134666	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134669	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134670	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134672	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134676	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134677	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4347951	0.83[EUR][1000 genomes]
rs5752864	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713861	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7292708	0.89[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
rs134608	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29470000-29477600	Weak transcription	Aorta	Aorta
2	chr22:29470400-29475400	Weak transcription	Brain Angular Gyrus	brain
3	chr22:29470400-29476400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:29470600-29475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:29470600-29476200	Weak transcription	Psoas Muscle	Psoas
7	chr22:29470600-29478400	Weak transcription	Gastric	stomach
8	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
9	chr22:29470800-29475400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:29470800-29475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:29470800-29476200	Weak transcription	Liver	Liver
12	chr22:29471000-29476200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:29471200-29476200	Weak transcription	Brain Anterior Caudate	brain
14	chr22:29471400-29476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29471400-29476200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
17	chr22:29471800-29477000	Enhancers	Fetal Thymus	thymus
18	chr22:29472200-29475400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:29472200-29476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:29472200-29477600	Weak transcription	HepG2	liver
21	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
22	chr22:29472800-29475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:29473200-29475400	Enhancers	Brain Germinal Matrix	brain
24	chr22:29473200-29475600	Enhancers	Fetal Muscle Trunk	muscle
25	chr22:29473200-29481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:29473400-29477600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:29473600-29475400	Flanking Active TSS	Dnd41	blood
28	chr22:29474000-29475600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:29474000-29475600	Enhancers	Spleen	Spleen
30	chr22:29474000-29476600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:29474000-29476800	Enhancers	HSMMtube	muscle
32	chr22:29474000-29478000	Enhancers	NHDF-Ad	bronchial
33	chr22:29474000-29481400	Enhancers	Fetal Lung	lung
34	chr22:29474200-29475400	Enhancers	Fetal Heart	heart
35	chr22:29474200-29477800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29474200-29478800	Enhancers	Fetal Brain Female	brain
37	chr22:29474600-29475400	Enhancers	Thymus	Thymus
38	chr22:29474600-29476200	Enhancers	Colonic Mucosa	Colon
39	chr22:29474800-29475400	Enhancers	Brain Substantia Nigra	brain
40	chr22:29474800-29475400	Enhancers	Esophagus	oesophagus
41	chr22:29474800-29475400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr22:29474800-29475400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr22:29474800-29475400	Enhancers	Left Ventricle	heart
44	chr22:29474800-29475400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr22:29474800-29475600	Enhancers	Lung	lung
46	chr22:29474800-29475600	Enhancers	Small Intestine	intestine
47	chr22:29474800-29475600	Enhancers	Stomach Mucosa	stomach
48	chr22:29474800-29476600	Enhancers	Fetal Kidney	kidney
49	chr22:29474800-29476800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:29474800-29476800	Enhancers	Placenta	Placenta

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