Variant report

Variant	rs4331249
Chromosome Location	chr13:48484176-48484177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10397	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13243	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2094196	0.81[ASN][1000 genomes]
rs4477588	0.82[EUR][1000 genomes]
rs4942711	0.86[EUR][1000 genomes]
rs56385117	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324919	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7331746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335869	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339238	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981902	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7984527	0.90[EUR][1000 genomes]
rs7989765	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534872	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562772	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562780	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562781	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562784	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9567939	0.85[EUR][1000 genomes]
rs9567944	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567945	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567946	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567956	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634811	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48468600-48485600	Weak transcription	Gastric	stomach
2	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
4	chr13:48478600-48490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:48478800-48491000	Weak transcription	Adipose Nuclei	Adipose
6	chr13:48478800-48491800	Weak transcription	Left Ventricle	heart
7	chr13:48478800-48492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:48479400-48488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:48481000-48493000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:48482800-48494400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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