Variant report

Variant	rs1621801
Chromosome Location	chr6:161196966-161196967
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	chr6:161196367..161198386-chr6:161199110..161200907,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1084654	0.82[EUR][1000 genomes]
rs1084656	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1084658	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11060	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11902	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247513	0.82[ASN][1000 genomes]
rs1247541	0.90[ASN][1000 genomes]
rs1247551	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247552	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247553	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247554	0.90[ASN][1000 genomes]
rs1247555	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247556	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247557	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247558	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247561	1.00[ASN][1000 genomes]
rs1247562	1.00[ASN][1000 genomes]
rs1247563	1.00[ASN][1000 genomes]
rs1247568	1.00[ASN][1000 genomes]
rs1247570	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406890	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1406891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1614840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615527	0.89[EUR][1000 genomes]
rs1620921	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1652455	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1652463	0.90[ASN][1000 genomes]
rs1652471	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1652482	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1652499	0.90[ASN][1000 genomes]
rs1652500	0.90[ASN][1000 genomes]
rs1652502	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740432	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1740443	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1740444	1.00[ASN][1000 genomes]
rs1740446	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1830524	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1937485	0.82[ASN][1000 genomes]
rs2565724	1.00[CHB][hapmap]
rs2802356	0.82[ASN][1000 genomes]
rs28711930	0.90[ASN][1000 genomes]
rs6690	0.88[EUR][1000 genomes]
rs783156	0.82[ASN][1000 genomes]
rs783159	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783160	0.90[ASN][1000 genomes]
rs783161	0.90[ASN][1000 genomes]
rs783162	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783163	0.82[EUR][1000 genomes]
rs783164	0.90[ASN][1000 genomes]
rs783168	0.94[EUR][1000 genomes]
rs783169	0.94[EUR][1000 genomes]
rs783171	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783173	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783174	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783175	0.82[ASN][1000 genomes]
rs783177	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783178	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783180	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs783182	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9355844	0.90[ASN][1000 genomes]
rs9456598	0.90[ASN][1000 genomes]
rs9458048	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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv981309	chr6:161193505-161211503	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1621801	LOC729603	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161196400-161198000	Enhancers	Fetal Lung	lung
2	chr6:161196600-161197000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:161196600-161197000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:161196600-161197600	Flanking Active TSS	GM12878-XiMat	blood

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