Variant report

Variant	rs1512348
Chromosome Location	chr8:104019140-104019141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103931524..103933304-chr8:104018085..104019856,2	K562	blood:
2	chr8:103873417..103876548-chr8:104018379..104021326,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-2	chr8:104018987-104019164	l_3662_chr8:104011570-104059274_thyroid
2	lnc-KB-1507C5.2.1-2	chr8:104018726-104019221	NONHSAT128146

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10092124	0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10099603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955300	0.87[ASN][1000 genomes]
rs1566158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869976	0.82[YRI][hapmap]
rs16869978	0.82[YRI][hapmap]
rs16870020	1.00[YRI][hapmap]
rs16870035	1.00[YRI][hapmap]
rs16870052	0.85[YRI][hapmap]
rs1849339	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1913025	0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2047378	0.82[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs2048550	0.81[CEU][hapmap]
rs2388373	0.87[ASN][1000 genomes]
rs2458287	0.82[YRI][hapmap]
rs2515180	0.82[CEU][hapmap]
rs2515192	0.82[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs2515194	0.82[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap]
rs2679733	0.83[ASN][1000 genomes]
rs2679734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679738	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28693757	0.87[ASN][1000 genomes]
rs2935582	0.87[ASN][1000 genomes]
rs2935583	0.86[ASN][1000 genomes]
rs2942225	0.87[ASN][1000 genomes]
rs2945830	0.87[ASN][1000 genomes]
rs3018945	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3018946	0.86[ASN][1000 genomes]
rs3018947	0.87[ASN][1000 genomes]
rs3019163	0.83[GIH][hapmap];0.83[MEX][hapmap]
rs4373497	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4592000	0.87[ASN][1000 genomes]
rs492009	0.87[ASN][1000 genomes]
rs492108	0.87[ASN][1000 genomes]
rs493743	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs494767	0.87[ASN][1000 genomes]
rs494941	0.87[ASN][1000 genomes]
rs498193	0.87[JPT][hapmap]
rs514502	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs515024	0.83[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs522300	0.85[ASN][1000 genomes]
rs525817	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs543674	0.86[ASN][1000 genomes]
rs543736	0.86[ASN][1000 genomes]
rs548291	0.83[ASN][1000 genomes]
rs549251	0.86[ASN][1000 genomes]
rs55743653	0.87[ASN][1000 genomes]
rs55801214	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs563544	0.87[JPT][hapmap]
rs565338	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs571301	0.87[ASN][1000 genomes]
rs575524	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs577704	0.87[ASN][1000 genomes]
rs579324	0.87[ASN][1000 genomes]
rs582100	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs595227	0.86[ASN][1000 genomes]
rs596631	0.86[ASN][1000 genomes]
rs600667	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs611839	0.87[ASN][1000 genomes]
rs612340	0.87[ASN][1000 genomes]
rs612363	0.87[ASN][1000 genomes]
rs62525305	0.84[ASN][1000 genomes]
rs626234	0.87[ASN][1000 genomes]
rs626253	0.87[ASN][1000 genomes]
rs627111	0.87[ASN][1000 genomes]
rs640049	0.86[ASN][1000 genomes]
rs640903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641814	0.86[ASN][1000 genomes]
rs641839	0.86[ASN][1000 genomes]
rs661012	0.90[JPT][hapmap]
rs693341	0.81[ASN][1000 genomes]
rs7013362	0.96[CEU][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7816151	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816814	0.87[ASN][1000 genomes]
rs7834163	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834756	0.87[ASN][1000 genomes]
rs7834916	0.83[ASN][1000 genomes]
rs868907	0.91[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1512348	BAALC	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104018000-104022800	Weak transcription	Pancreas	Pancrea
2	chr8:104018200-104020600	Enhancers	K562	blood

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