Variant report

Variant	rs7243437
Chromosome Location	chr18:45658047-45658048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45650799..45652608-chr18:45657316..45660495,3	MCF-7	breast:
2	chr18:45657690..45659673-chr18:45662956..45666549,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184828	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12965052	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076363	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4076364	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4078130	0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs61322349	0.82[ASN][1000 genomes]
rs6507818	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7243021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8091725	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8092444	0.90[CHB][hapmap]
rs8097448	0.80[AMR][1000 genomes]
rs8098626	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]
rs9951415	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9953845	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[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
rs7243437	CXXC1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45646200-45662000	Weak transcription	Right Atrium	heart
2	chr18:45650000-45659400	Weak transcription	Lung	lung
3	chr18:45650600-45660600	Weak transcription	Fetal Intestine Small	intestine
4	chr18:45651200-45659000	Weak transcription	Colonic Mucosa	Colon
5	chr18:45651400-45659400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:45652400-45658600	Weak transcription	Hela-S3	cervix
7	chr18:45653600-45659200	Weak transcription	Gastric	stomach
8	chr18:45654200-45658600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:45655600-45659000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:45656200-45658200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr18:45656400-45659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:45656600-45659200	Weak transcription	Fetal Stomach	stomach
13	chr18:45656600-45659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:45656600-45659400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:45656600-45659400	Weak transcription	Placenta	Placenta
16	chr18:45656600-45659400	Weak transcription	Ovary	ovary
17	chr18:45656800-45661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:45657000-45658800	Weak transcription	Fetal Kidney	kidney
19	chr18:45657000-45659000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:45657000-45659000	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:45657000-45659400	Weak transcription	Esophagus	oesophagus
22	chr18:45657600-45658400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:45658000-45659000	Weak transcription	Stomach Mucosa	stomach
24	chr18:45658000-45659400	Weak transcription	Liver	Liver

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