Variant report

Variant	rs623693
Chromosome Location	chr11:75429459-75429460
allele	A/C
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	MYBL2	chr11:75429417-75430240	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75273373..75275096-chr11:75428137..75429945,2	MCF-7	breast:

Variant related genes	Relation type
MOGAT2	TF binding region
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10793123	0.81[EUR][1000 genomes]
rs10899102	0.89[EUR][1000 genomes]
rs1145700	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1219536	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1219537	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1219538	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1219539	0.88[EUR][1000 genomes]
rs1238914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473013	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs473791	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs554202	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650861	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs623693	DHCR7	cis	parietal	SCAN
rs623693	LRRC32	cis	parietal	SCAN
rs623693	NUMA1	cis	parietal	SCAN
rs623693	ARHGEF17	cis	cerebellum	SCAN
rs623693	GAB2	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75428000-75429600	Enhancers	Liver	Liver
2	chr11:75428200-75431200	Enhancers	Gastric	stomach
3	chr11:75428600-75430200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:75428600-75430600	Active TSS	Duodenum Mucosa	Duodenum
5	chr11:75428600-75431000	Enhancers	Stomach Mucosa	stomach
6	chr11:75428800-75429600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:75428800-75429600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:75428800-75430000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:75428800-75430200	Enhancers	Right Ventricle	heart
10	chr11:75428800-75430400	Enhancers	Adipose Nuclei	Adipose
11	chr11:75428800-75431000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:75428800-75431000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:75428800-75431200	Enhancers	Left Ventricle	heart
14	chr11:75428800-75431200	Active TSS	Rectal Smooth Muscle	rectum
15	chr11:75429000-75429800	Enhancers	Right Atrium	heart
16	chr11:75429000-75430200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr11:75429000-75430400	Enhancers	Fetal Heart	heart
18	chr11:75429000-75431600	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:75429000-75431600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:75429200-75429800	Active TSS	Small Intestine	intestine
21	chr11:75429400-75429600	Active TSS	Fetal Intestine Small	intestine
22	chr11:75429400-75429600	Active TSS	Fetal Stomach	stomach
23	chr11:75429400-75430000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr11:75429400-75430600	Enhancers	GM12878-XiMat	blood
25	chr11:75429400-75430800	Flanking Active TSS	HepG2	liver

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