Variant report

Variant	rs597310
Chromosome Location	chr3:109641250-109641251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1164227	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715893	0.81[ASN][1000 genomes]
rs13094397	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2682531	0.88[ASN][1000 genomes]
rs2693620	0.90[ASN][1000 genomes]
rs2693635	0.90[ASN][1000 genomes]
rs2700255	0.89[ASN][1000 genomes]
rs2700258	0.88[ASN][1000 genomes]
rs3915171	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs588487	0.85[ASN][1000 genomes]
rs594096	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs600054	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603148	0.90[ASN][1000 genomes]
rs604438	0.90[ASN][1000 genomes]
rs604985	0.88[ASN][1000 genomes]
rs605347	0.82[ASN][1000 genomes]
rs605451	0.80[ASN][1000 genomes]
rs606216	0.88[ASN][1000 genomes]
rs608926	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs612254	0.88[ASN][1000 genomes]
rs614450	0.88[ASN][1000 genomes]
rs614804	0.86[ASN][1000 genomes]
rs617517	0.88[ASN][1000 genomes]
rs618829	0.90[ASN][1000 genomes]
rs620683	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs622048	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs623226	0.88[ASN][1000 genomes]
rs626977	0.88[ASN][1000 genomes]
rs627434	0.88[ASN][1000 genomes]
rs632144	0.91[ASN][1000 genomes]
rs642983	0.88[ASN][1000 genomes]
rs652760	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs654027	0.90[ASN][1000 genomes]
rs654076	0.90[ASN][1000 genomes]
rs654095	0.90[ASN][1000 genomes]
rs656177	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs657025	0.88[ASN][1000 genomes]
rs657834	0.88[ASN][1000 genomes]
rs664861	0.88[ASN][1000 genomes]
rs666129	0.88[ASN][1000 genomes]
rs666533	0.90[ASN][1000 genomes]
rs666674	0.88[ASN][1000 genomes]
rs667338	0.88[ASN][1000 genomes]
rs671574	0.88[ASN][1000 genomes]
rs672489	0.88[ASN][1000 genomes]
rs673959	0.88[ASN][1000 genomes]
rs677533	0.81[ASN][1000 genomes]
rs678058	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680451	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684185	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs685147	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs686071	0.82[ASN][1000 genomes]
rs686207	0.87[ASN][1000 genomes]
rs687955	0.88[ASN][1000 genomes]
rs688616	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009075	chr3:109462019-109800029	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv591270	chr3:109462400-109793785	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1009550	chr3:109577315-109795453	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1839660	chr3:109591203-109678542	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv829666	chr3:109593745-109768652	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2754434	chr3:109604310-109777310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv236806	chr3:109638554-109647641	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109630000-109642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:109637400-109645200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:109640600-109641400	Enhancers	Fetal Lung	lung
4	chr3:109640600-109641600	Enhancers	Dnd41	blood
5	chr3:109640600-109641800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:109640600-109644400	Enhancers	A549	lung
7	chr3:109640800-109642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:109640800-109646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:109641000-109641600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:109641000-109645200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:109641200-109641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:109641200-109643600	Enhancers	Hela-S3	cervix

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