Variant report

Variant	rs330280
Chromosome Location	chr18:30175881-30175882
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs162418	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs162419	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs162420	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162421	0.96[CEU][hapmap];0.88[ASN][1000 genomes]
rs162422	0.96[CEU][hapmap];0.88[ASN][1000 genomes]
rs1648668	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1693310	0.90[ASN][1000 genomes]
rs1693311	0.90[ASN][1000 genomes]
rs1693312	0.89[ASN][1000 genomes]
rs1693319	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1705439	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1705440	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1705441	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1705443	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1705444	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1705445	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1705470	0.92[EUR][1000 genomes]
rs1705477	0.90[ASN][1000 genomes]
rs189796	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2088375	0.88[ASN][1000 genomes]
rs2421524	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2666805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs330283	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330284	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330296	0.91[CEU][hapmap]
rs330297	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs330298	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs330299	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs330300	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs330301	0.96[CEU][hapmap]
rs330302	0.88[ASN][1000 genomes]
rs330303	0.96[CEU][hapmap];0.88[ASN][1000 genomes]
rs330304	0.96[CEU][hapmap];0.88[ASN][1000 genomes]
rs330305	0.96[CEU][hapmap]
rs330307	0.90[ASN][1000 genomes]
rs330308	0.90[ASN][1000 genomes]
rs330328	0.85[EUR][1000 genomes]
rs8097669	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937401	0.90[ASN][1000 genomes]
rs937402	0.90[ASN][1000 genomes]
rs9635884	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	chr18:30174600-30177000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr18:30174600-30178200	Enhancers	Fetal Brain Male	brain
3	chr18:30174800-30176200	Enhancers	Fetal Brain Female	brain
4	chr18:30175600-30176000	Weak transcription	H1 Cell Line	embryonic stem cell

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