Variant report

Variant	rs134559
Chromosome Location	chr22:29458441-29458442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:29458082-29458800	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr22:29458381-29458628	K562	blood:	n/a	n/a
3	CEBPB	chr22:29458380-29458533	HepG2	liver:	n/a	n/a
4	MXI1	chr22:29458368-29458520	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr22:29458374-29458678	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr22:29458364-29458560	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr22:29458205-29458619	HepG2	liver:	n/a	chr22:29458400-29458409
8	CEBPB	chr22:29458319-29458693	HepG2	liver:	n/a	n/a
9	CEBPB	chr22:29457880-29458658	HepG2	liver:	n/a	n/a
10	TBP	chr22:29458360-29458516	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C22orf31	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs134560	0.95[GIH][hapmap]
rs134594	0.81[GIH][hapmap]
rs760627	0.83[JPT][hapmap]
rs783	0.88[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs134559	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134559	SF3A1	cis	cerebellum	SCAN
rs134559	SRRD	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29443800-29458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:29447200-29458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:29450800-29458600	Weak transcription	Pancreas	Pancrea
4	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29451800-29467000	Weak transcription	Ovary	ovary
6	chr22:29453000-29461000	Weak transcription	Dnd41	blood
7	chr22:29455800-29465600	Weak transcription	K562	blood
8	chr22:29456600-29458600	Enhancers	Placenta	Placenta
9	chr22:29457600-29458600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:29457600-29459400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:29458000-29458800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29458000-29459000	Enhancers	HMEC	breast
13	chr22:29458200-29458600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr22:29458200-29458600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr22:29458200-29458600	Enhancers	Brain Anterior Caudate	brain
16	chr22:29458200-29458600	Enhancers	Brain Hippocampus Middle	brain
17	chr22:29458200-29458600	Bivalent Enhancer	NHEK	skin
18	chr22:29458200-29458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr22:29458200-29458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29458200-29458800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29458200-29458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29458200-29459000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:29458200-29459000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr22:29458200-29459000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:29458200-29459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29458200-29459200	Enhancers	Fetal Muscle Leg	muscle
27	chr22:29458200-29459400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:29458400-29458600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29458400-29458600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29458400-29458800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr22:29458400-29458800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr22:29458400-29458800	Flanking Active TSS	HepG2	liver
33	chr22:29458400-29459000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29458400-29459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:29458400-29459000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:29458400-29459000	Enhancers	Psoas Muscle	Psoas
37	chr22:29458400-29459000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:29458400-29459200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:29458400-29459200	Enhancers	HSMMtube	muscle

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