Variant report

Variant	rs7324353
Chromosome Location	chr13:76272283-76272284
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76272265..76273781-chr13:76290115..76292337,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1323710	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1830760	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2025354	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2328954	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs479824	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs502171	0.83[ASN][1000 genomes]
rs508596	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs560069	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61958148	0.85[ASN][1000 genomes]
rs634729	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs636505	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7331527	0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.89[ASN][1000 genomes]
rs7336908	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7986141	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7999158	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9530463	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9573627	0.80[EUR][1000 genomes]
rs9600533	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7324353	COMMD6	cis	cerebellum	SCAN
rs7324353	TBC1D4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259400-76273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:76259600-76294400	Weak transcription	Ovary	ovary
3	chr13:76259800-76274600	Weak transcription	Aorta	Aorta
4	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
8	chr13:76268000-76274800	Weak transcription	NHLF	lung
9	chr13:76268000-76279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:76268800-76277800	Weak transcription	NH-A	brain
11	chr13:76269600-76273400	Weak transcription	Fetal Intestine Small	intestine
12	chr13:76270400-76275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:76271000-76272600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76271000-76273400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:76271000-76273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:76271200-76274800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76271200-76274800	Weak transcription	HSMMtube	muscle
18	chr13:76271200-76276200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:76271200-76276400	Weak transcription	Hela-S3	cervix
20	chr13:76271200-76277400	Weak transcription	Stomach Mucosa	stomach
21	chr13:76271400-76274400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:76271400-76274600	Weak transcription	Placenta	Placenta
23	chr13:76271400-76275000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:76271400-76278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:76271400-76286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:76271800-76273400	Strong transcription	NHDF-Ad	bronchial
27	chr13:76271800-76273600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:76272000-76273400	Strong transcription	Osteobl	bone
29	chr13:76272200-76272600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:76272200-76273000	Weak transcription	HSMM	muscle

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