Variant report

Variant	rs783
Chromosome Location	chr22:29461622-29461623
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	EP300	chr22:29461491-29461788	K562	blood:	n/a	n/a
2	GATA1	chr22:29461274-29462096	K562	blood:	n/a	chr22:29461644-29461651 chr22:29461649-29461656 chr22:29461644-29461651 chr22:29461633-29461650 chr22:29461644-29461651
3	SPI1	chr22:29461513-29461877	HL-60	blood:	n/a	n/a
4	CUX1	chr22:29461427-29461716	K562	blood:	n/a	n/a
5	SPI1	chr22:29461524-29461821	GM12891	blood:	n/a	n/a
6	SPI1	chr22:29461482-29461818	HL-60	blood:	n/a	n/a
7	SPI1	chr22:29461583-29461719	K562	blood:	n/a	n/a
8	SPI1	chr22:29461540-29461728	GM12878	blood:	n/a	n/a
9	RCOR1	chr22:29461437-29462073	K562	blood:	n/a	n/a
10	JUND	chr22:29461519-29461747	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29460513..29462315-chr22:29463716..29465487,2	MCF-7	breast:
2	chr22:29458794..29462861-chr22:29545928..29550252,4	K562	blood:
3	chr22:29461478..29465218-chr22:29467566..29469603,3	K562	blood:

Variant related genes	Relation type
C22orf31	TF binding region
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs134559	0.88[GIH][hapmap]
rs134560	0.84[GIH][hapmap]
rs134561	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134567	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134569	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134579	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134594	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134596	0.81[TSI][hapmap]
rs134599	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134600	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134601	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134602	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134603	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134604	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134605	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134607	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134609	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134613	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134619	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134620	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134621	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134623	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134624	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134625	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134626	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134629	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134630	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134635	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134636	0.81[TSI][hapmap]
rs134637	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134638	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134639	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134645	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134653	0.83[TSI][hapmap]
rs134657	0.81[TSI][hapmap]
rs20037	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2049939	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5762980	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713861	0.81[TSI][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
rs783	MORC2	cis	cerebellum	SCAN
rs783	KREMEN1	cis	Heart Left Ventricle	GTEx
rs783	SRRD	cis	cerebellum	SCAN

Chromatin state (count:28 , 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	chr22:29455800-29465600	Weak transcription	K562	blood
4	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29458800-29463200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:29459000-29465400	Weak transcription	Psoas Muscle	Psoas
7	chr22:29461000-29463800	Enhancers	Dnd41	blood
8	chr22:29461200-29461800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr22:29461200-29462200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr22:29461200-29462400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr22:29461200-29462400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:29461200-29462400	Enhancers	Thymus	Thymus
13	chr22:29461200-29462600	Enhancers	Fetal Thymus	thymus
14	chr22:29461200-29462800	Enhancers	Fetal Muscle Leg	muscle
15	chr22:29461200-29463000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr22:29461200-29464000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:29461400-29461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29461400-29462200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr22:29461400-29462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:29461400-29462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:29461400-29462400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:29461400-29462400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:29461400-29464000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:29461600-29462000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr22:29461600-29462200	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:29461600-29462400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:29461600-29462400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr22:29461600-29462400	Enhancers	HepG2	liver

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