Variant report

Variant	rs7522365
Chromosome Location	chr1:113995428-113995429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113935271..113938235-chr1:113994077..113995754,2	MCF-7	breast:
2	chr1:113995191..113995964-chr1:114220394..114221133,3	MCF-7	breast:
3	chr1:113682819..113684058-chr1:113995303..113996916,12	MCF-7	breast:
4	chr1:113931751..113937304-chr1:113991927..113997733,10	MCF-7	breast:
5	chr1:113933924..113934739-chr1:113995326..113996059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157946	0.80[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10776770	0.80[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10857997	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857998	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11102625	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs12118048	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402614	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17507490	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1936930	0.80[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2359417	0.80[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6661923	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6694861	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523404	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543189	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552954	0.80[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.81[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7522365	CTTNBP2NL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113985000-113999000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113987800-113996000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113994200-113996400	Enhancers	HUVEC	blood vessel
4	chr1:113994400-113996600	Enhancers	Liver	Liver
5	chr1:113994400-113996600	Enhancers	A549	lung
6	chr1:113994600-113995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:113994600-113996600	Enhancers	Small Intestine	intestine
8	chr1:113994800-114004400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:113995000-113996000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:113995000-113996000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:113995000-113996200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:113995000-113996200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:113995000-113996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:113995000-113996200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:113995200-113995600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:113995200-113995600	Enhancers	Fetal Intestine Large	intestine
17	chr1:113995400-113995600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:113995400-113995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:113995400-113995600	Enhancers	Colon Smooth Muscle	Colon
20	chr1:113995400-113995800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:113995400-113996200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:113995400-113996600	Enhancers	Hela-S3	cervix
23	chr1:113995400-113998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:113995400-113999000	Weak transcription	Stomach Mucosa	stomach
25	chr1:113995400-113999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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