Variant report

Variant	rs241758
Chromosome Location	chr22:33345670-33345671
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	FOXA1	chr22:33345619-33345958	HepG2	liver:	n/a	n/a
2	TEAD4	chr22:33345630-33346110	HepG2	liver:	n/a	n/a
3	FOXA1	chr22:33345668-33346013	HepG2	liver:	n/a	n/a
4	FOXA1	chr22:33345667-33346054	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33339333-33353583	K562	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs133925	0.84[ASN][1000 genomes]
rs133926	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs133931	0.85[CHB][hapmap]
rs133934	0.86[CHB][hapmap]
rs133937	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs133938	0.86[CHB][hapmap]
rs137552	0.93[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs241707	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs241708	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs241709	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs241711	0.82[JPT][hapmap]
rs241712	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241714	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241715	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs241721	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs241725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241732	0.93[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs241756	0.85[ASN][1000 genomes]
rs241757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241759	0.85[ASN][1000 genomes]
rs241760	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs241763	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241765	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241766	0.81[ASN][1000 genomes]
rs241767	0.93[CHB][hapmap]
rs241873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4518061	0.84[ASN][1000 genomes]
rs5754350	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754351	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754366	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754377	0.84[CHB][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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs241758	MORC2	cis	parietal	SCAN
rs241758	OSBP2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33340200-33346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain
4	chr22:33343000-33347000	Enhancers	Fetal Intestine Small	intestine
5	chr22:33343200-33345800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:33343200-33347400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:33343600-33346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:33344200-33346400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:33344400-33345800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:33344800-33346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
15	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:33345400-33346000	Enhancers	HMEC	breast
19	chr22:33345400-33346200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr22:33345400-33346200	Enhancers	Lung	lung
21	chr22:33345400-33346200	Enhancers	Ovary	ovary
22	chr22:33345400-33346600	Enhancers	Pancreas	Pancrea
23	chr22:33345400-33347400	Enhancers	Fetal Intestine Large	intestine
24	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
25	chr22:33345400-33348600	Enhancers	Placenta	Placenta
26	chr22:33345400-33348600	Enhancers	Left Ventricle	heart
27	chr22:33345600-33346000	Enhancers	Stomach Smooth Muscle	stomach
28	chr22:33345600-33346600	Enhancers	Fetal Kidney	kidney
29	chr22:33345600-33346800	Enhancers	HepG2	liver
30	chr22:33345600-33346800	Enhancers	K562	blood
31	chr22:33345600-33348400	Enhancers	Fetal Lung	lung
32	chr22:33345600-33348600	Enhancers	Right Atrium	heart

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