Variant report

Variant	rs4328312
Chromosome Location	chr13:39829413-39829414
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	chr13:39612166..39614175-chr13:39828617..39830639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188811	Chromatin interaction
ENSG00000120685	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1577030	0.92[ASN][1000 genomes]
rs1889168	0.84[ASN][1000 genomes]
rs2026522	0.96[ASN][1000 genomes]
rs4362261	0.88[ASN][1000 genomes]
rs4435117	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544151	0.86[ASN][1000 genomes]
rs60345209	0.85[ASN][1000 genomes]
rs7328575	0.95[ASN][1000 genomes]
rs7330627	0.85[ASN][1000 genomes]
rs7982642	0.85[ASN][1000 genomes]
rs7988999	0.97[ASN][1000 genomes]
rs9315663	0.87[ASN][1000 genomes]
rs9532346	0.87[ASN][1000 genomes]
rs9532349	0.87[ASN][1000 genomes]
rs9532350	0.87[ASN][1000 genomes]
rs9532351	0.85[ASN][1000 genomes]
rs9532352	0.87[ASN][1000 genomes]
rs9532353	0.85[ASN][1000 genomes]
rs9532354	0.88[ASN][1000 genomes]
rs9532359	0.92[ASN][1000 genomes]
rs9548668	0.81[ASN][1000 genomes]
rs9548669	0.88[ASN][1000 genomes]
rs9548670	0.87[ASN][1000 genomes]
rs9548673	0.87[ASN][1000 genomes]
rs9548674	0.87[ASN][1000 genomes]
rs9548676	0.87[ASN][1000 genomes]
rs9548677	0.87[ASN][1000 genomes]
rs9548678	0.87[ASN][1000 genomes]
rs9548679	0.87[ASN][1000 genomes]
rs9548680	0.87[ASN][1000 genomes]
rs9548681	0.85[ASN][1000 genomes]
rs9548682	0.85[ASN][1000 genomes]
rs9548683	0.87[ASN][1000 genomes]
rs9548692	0.90[ASN][1000 genomes]
rs9548693	0.91[ASN][1000 genomes]
rs9548695	0.92[ASN][1000 genomes]
rs9548697	0.94[ASN][1000 genomes]
rs9548698	0.94[ASN][1000 genomes]
rs9548699	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576758	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1048391	chr13:39735088-39832358	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1036124	chr13:39735088-39837566	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047276	chr13:39735088-39839257	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv900007	chr13:39801283-39849423	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4328312	STOML3	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39824800-39831000	Weak transcription	Right Ventricle	heart
2	chr13:39825000-39833600	Weak transcription	Fetal Stomach	stomach
3	chr13:39827800-39829600	Enhancers	Fetal Heart	heart
4	chr13:39828000-39831800	Enhancers	Fetal Lung	lung
5	chr13:39828200-39831400	Weak transcription	Psoas Muscle	Psoas
6	chr13:39828400-39831200	Weak transcription	Ovary	ovary
7	chr13:39828800-39830000	Enhancers	Right Atrium	heart
8	chr13:39829000-39831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:39829400-39830200	Weak transcription	Adipose Nuclei	Adipose
10	chr13:39829400-39831000	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:39829400-39831000	Weak transcription	Left Ventricle	heart

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