Variant report

Variant	rs7230288
Chromosome Location	chr18:45652257-45652258
allele	C/T
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:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12608065	0.87[ASN][1000 genomes]
rs4636987	0.81[ASN][1000 genomes]
rs62087386	0.89[ASN][1000 genomes]
rs7227325	0.82[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
rs7230288	CXXC1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45642400-45657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:45646200-45662000	Weak transcription	Right Atrium	heart
3	chr18:45648400-45653000	Enhancers	Placenta	Placenta
4	chr18:45649400-45653000	Enhancers	Stomach Mucosa	stomach
5	chr18:45650000-45653000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:45650000-45655400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:45650000-45659400	Weak transcription	Lung	lung
8	chr18:45650400-45652400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:45650400-45652400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr18:45650400-45653800	Genic enhancers	Esophagus	oesophagus
11	chr18:45650400-45655200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:45650600-45653600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr18:45650600-45660600	Weak transcription	Fetal Intestine Small	intestine
14	chr18:45651000-45652600	Enhancers	Spleen	Spleen
15	chr18:45651200-45655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:45651200-45659000	Weak transcription	Colonic Mucosa	Colon
17	chr18:45651400-45652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:45651400-45653400	Weak transcription	Ovary	ovary
19	chr18:45651400-45659400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr18:45651600-45655600	Weak transcription	Fetal Kidney	kidney
21	chr18:45651800-45652400	Enhancers	Hela-S3	cervix
22	chr18:45651800-45655800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr18:45652000-45652400	Enhancers	Liver	Liver
24	chr18:45652000-45655800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:45652000-45656200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:45652200-45652400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:45652200-45653600	Enhancers	Gastric	stomach
28	chr18:45652200-45653800	Weak transcription	Fetal Muscle Leg	muscle

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