Variant report

Variant	rs1693310
Chromosome Location	chr18:30164014-30164015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs13381681	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1497243	0.88[EUR][1000 genomes]
rs1523580	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1523581	0.93[JPT][hapmap]
rs1523582	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs162418	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs162419	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs162420	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162422	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1648668	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1693311	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693312	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1693319	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705439	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1705440	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1705441	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1705442	0.83[EUR][1000 genomes]
rs1705443	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1705444	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705445	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1705470	0.85[EUR][1000 genomes]
rs1705477	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189796	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1980034	0.83[GIH][hapmap];0.94[JPT][hapmap]
rs2088375	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421524	0.89[ASN][1000 genomes]
rs2666805	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs330280	0.90[ASN][1000 genomes]
rs330281	0.82[EUR][1000 genomes]
rs330283	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs330284	0.90[ASN][1000 genomes]
rs330296	0.95[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs330297	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs330298	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330299	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs330300	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330301	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.99[EUR][1000 genomes]
rs330302	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330305	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs330306	0.89[EUR][1000 genomes]
rs330307	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330308	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330309	0.89[EUR][1000 genomes]
rs330327	0.80[EUR][1000 genomes]
rs330328	0.91[EUR][1000 genomes]
rs330330	0.94[JPT][hapmap]
rs4344834	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs8092564	0.88[JPT][hapmap]
rs8097669	0.90[ASN][1000 genomes]
rs937400	0.99[EUR][1000 genomes]
rs937401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937402	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635884	0.90[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:6 , 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
5	chr18:30163800-30164200	Enhancers	Fetal Brain Male	brain
6	chr18:30163800-30165200	Enhancers	Brain Substantia Nigra	brain

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