Variant report

Variant	rs134592
Chromosome Location	chr22:29467221-29467222
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	EBF1	chr22:29467165-29467574	GM12878	blood:	n/a	chr22:29467350-29467361
2	HDAC2	chr22:29467201-29467930	HepG2	liver:	n/a	n/a
3	EGR1	chr22:29467190-29467406	K562	blood:	n/a	chr22:29467299-29467313
4	EGR1	chr22:29467213-29467446	K562	blood:	n/a	chr22:29467299-29467313
5	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
6	EBF1	chr22:29467191-29467642	GM12878	blood:	n/a	chr22:29467350-29467361
7	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697

Variant related genes	Relation type
KREMEN1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12329960	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134560	0.90[MEX][hapmap]
rs134564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134596	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134598	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134605	0.97[GIH][hapmap]
rs134607	0.97[GIH][hapmap]
rs134608	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134609	0.97[GIH][hapmap]
rs134622	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134630	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134631	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134636	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134637	0.83[GIH][hapmap]
rs134641	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134644	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134660	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134670	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134672	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs20037	0.97[GIH][hapmap]
rs5752864	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs713861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7292708	0.88[EUR][1000 genomes];0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs134592	MORC2	cis	cerebellum	SCAN
rs134592	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134592	EMID1	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29463800-29468400	Weak transcription	Dnd41	blood
5	chr22:29465000-29467400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:29465400-29467400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr22:29465800-29467400	Weak transcription	Psoas Muscle	Psoas
8	chr22:29465800-29467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:29466400-29467400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr22:29466400-29467800	Enhancers	Placenta	Placenta
12	chr22:29466600-29467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:29466600-29467800	Enhancers	Stomach Mucosa	stomach
14	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
15	chr22:29466800-29467400	Flanking Active TSS	HepG2	liver
16	chr22:29466800-29467600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr22:29467000-29467400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:29467000-29467400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr22:29467000-29467400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29467000-29467400	Enhancers	Brain Hippocampus Middle	brain
26	chr22:29467000-29467400	Enhancers	Colonic Mucosa	Colon
27	chr22:29467000-29467400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr22:29467000-29467400	Flanking Active TSS	NHEK	skin
29	chr22:29467000-29467600	Enhancers	Liver	Liver
30	chr22:29467000-29467800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
34	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29467200-29467400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:29467200-29467400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr22:29467200-29467400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:29467200-29467400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:29467200-29467400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:29467200-29467400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr22:29467200-29467400	Enhancers	Pancreas	Pancrea
49	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr22:29467200-29467400	Flanking Active TSS	HMEC	breast

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