Variant report

Variant	rs8098626
Chromosome Location	chr18:45667057-45667058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45658580..45662145-chr18:45664603..45667810,4	MCF-7	breast:
2	chr18:45666537..45669194-chr18:45677559..45680379,3	MCF-7	breast:
3	chr18:45662912..45665454-chr18:45665955..45668801,2	MCF-7	breast:
4	chr18:45665789..45668070-chr18:45669846..45671531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184828	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12965052	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076363	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4076364	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4078130	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs61322349	0.93[ASN][1000 genomes]
rs6507818	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7243021	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243437	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8091725	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8092444	0.81[CHB][hapmap]
rs8097448	0.84[AMR][1000 genomes]
rs9947155	0.83[AMR][1000 genomes]
rs9951415	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9953845	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8098626	CXXC1	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45663600-45667400	Enhancers	Placenta	Placenta
2	chr18:45663600-45667400	Enhancers	Spleen	Spleen
3	chr18:45663800-45667400	Enhancers	Gastric	stomach
4	chr18:45663800-45667800	Enhancers	Esophagus	oesophagus
5	chr18:45663800-45679800	Weak transcription	Aorta	Aorta
6	chr18:45664000-45667600	Enhancers	Stomach Mucosa	stomach
7	chr18:45664000-45670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:45664200-45667400	Enhancers	Colonic Mucosa	Colon
9	chr18:45664200-45667400	Enhancers	Lung	lung
10	chr18:45664400-45667400	Enhancers	Duodenum Mucosa	Duodenum
11	chr18:45664600-45667400	Enhancers	Pancreas	Pancrea
12	chr18:45665200-45667400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:45665400-45667400	Enhancers	Ovary	ovary
14	chr18:45665600-45667600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr18:45665600-45668400	Enhancers	Fetal Heart	heart
16	chr18:45665800-45670400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr18:45666000-45667200	Enhancers	Brain Substantia Nigra	brain
18	chr18:45666000-45667400	Enhancers	Right Ventricle	heart
19	chr18:45666000-45667800	Enhancers	Fetal Muscle Leg	muscle
20	chr18:45666000-45669000	Enhancers	Left Ventricle	heart
21	chr18:45666200-45667600	Enhancers	Right Atrium	heart
22	chr18:45666200-45668800	Enhancers	Brain Germinal Matrix	brain
23	chr18:45666400-45667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:45666400-45669400	Enhancers	Fetal Kidney	kidney
25	chr18:45666600-45668800	Enhancers	Hela-S3	cervix
26	chr18:45666600-45669400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr18:45667000-45667800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:45667000-45668800	Weak transcription	Fetal Intestine Large	intestine
29	chr18:45667000-45668800	Weak transcription	Fetal Intestine Small	intestine
30	chr18:45667000-45668800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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