Variant report

Variant	rs1497243
Chromosome Location	chr18:30163553-30163554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13381681	0.81[JPT][hapmap]
rs1523580	0.93[JPT][hapmap]
rs1523581	0.93[JPT][hapmap]
rs1523582	0.87[JPT][hapmap]
rs162418	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs162419	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs162420	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs162421	0.94[CHB][hapmap];0.88[EUR][1000 genomes]
rs162422	0.88[EUR][1000 genomes]
rs1693310	0.88[EUR][1000 genomes]
rs1693311	0.88[EUR][1000 genomes]
rs1693312	0.88[EUR][1000 genomes]
rs1693319	0.81[EUR][1000 genomes]
rs1705440	0.81[EUR][1000 genomes]
rs1705441	0.81[EUR][1000 genomes]
rs1705442	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1705443	0.81[EUR][1000 genomes]
rs1705444	0.81[EUR][1000 genomes]
rs1705470	0.91[ASN][1000 genomes]
rs1705477	0.88[EUR][1000 genomes]
rs189796	0.81[EUR][1000 genomes]
rs1980034	0.86[JPT][hapmap]
rs2088375	0.88[EUR][1000 genomes]
rs330265	0.82[AMR][1000 genomes]
rs330281	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs330296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs330297	0.88[CHB][hapmap]
rs330298	0.94[CHB][hapmap]
rs330299	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs330301	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs330302	0.88[EUR][1000 genomes]
rs330303	0.80[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs330304	0.80[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs330305	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs330306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330307	0.88[EUR][1000 genomes]
rs330308	0.88[EUR][1000 genomes]
rs330309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330327	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs330328	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs330330	0.87[JPT][hapmap]
rs4344834	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs72943518	0.81[ASN][1000 genomes]
rs8092564	0.93[JPT][hapmap]
rs937400	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs937401	0.89[EUR][1000 genomes]
rs937402	0.89[EUR][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	nsv909524	chr18:30115418-30196804	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv909525	chr18:30115418-30215056	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv909526	chr18:30124311-30259109	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1066906	chr18:30125366-30192567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv543676	chr18:30125366-30192567	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv431976	chr18:30129553-30194102	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30157200-30165400	Weak transcription	Brain Angular Gyrus	brain
2	chr18:30163000-30164800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr18:30163200-30164800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:30163200-30164800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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