Variant report

Variant	rs134560
Chromosome Location	chr22:29458845-29458846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29458794..29462861-chr22:29545928..29550252,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs134559	0.95[GIH][hapmap]
rs134592	0.90[MEX][hapmap]
rs134594	0.81[GIH][hapmap]
rs134596	0.85[MEX][hapmap]
rs134636	0.85[MEX][hapmap]
rs134653	0.85[MEX][hapmap]
rs134657	0.85[MEX][hapmap]
rs134666	0.90[MEX][hapmap]
rs713861	0.85[MEX][hapmap]
rs783	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs134560	SRRD	cis	cerebellum	SCAN
rs134560	SF3A1	cis	cerebellum	SCAN
rs134560	C22orf31	cis	multi-tissue	Pritchard
rs134560	EMID1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29451800-29467000	Weak transcription	Ovary	ovary
3	chr22:29453000-29461000	Weak transcription	Dnd41	blood
4	chr22:29455800-29465600	Weak transcription	K562	blood
5	chr22:29457600-29459400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:29458000-29459000	Enhancers	HMEC	breast
7	chr22:29458200-29459000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29458200-29459000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr22:29458200-29459000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:29458200-29459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:29458200-29459200	Enhancers	Fetal Muscle Leg	muscle
12	chr22:29458200-29459400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:29458400-29459000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:29458400-29459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr22:29458400-29459000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29458400-29459000	Enhancers	Psoas Muscle	Psoas
17	chr22:29458400-29459000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr22:29458400-29459200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:29458400-29459200	Enhancers	HSMMtube	muscle
20	chr22:29458600-29459000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:29458600-29459000	Enhancers	Fetal Muscle Trunk	muscle
22	chr22:29458600-29459000	Enhancers	Pancreas	Pancrea
23	chr22:29458600-29459200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29458600-29459600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:29458800-29459600	Enhancers	HepG2	liver
27	chr22:29458800-29463200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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