Variant report

Variant	rs10213971
Chromosome Location	chr5:27532751-27532752
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	chr5:27530537..27533471-chr5:27821180..27823240,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10036200	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10036269	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10044686	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12659060	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13184545	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17584737	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2329638	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329639	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6452394	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6870385	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6873397	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7719625	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7724927	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7735324	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880623	chr5:27279981-27559659	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv881318	chr5:27323746-27559659	Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv881003	chr5:27376682-27539490	Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv880935	chr5:27376682-27559659	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv880535	chr5:27376682-27706007	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv881139	chr5:27388559-27539490	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv880496	chr5:27388559-27559659	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv880940	chr5:27388559-27611431	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv880999	chr5:27388559-27770554	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv880926	chr5:27401935-27539490	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv881221	chr5:27401935-27660532	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv881125	chr5:27406164-27622177	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv880726	chr5:27424981-27539490	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv880474	chr5:27424981-27559659	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv880869	chr5:27424981-27684515	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv881364	chr5:27464184-27611431	Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv880559	chr5:27478198-27632765	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv880980	chr5:27478198-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv881485	chr5:27478198-27660532	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv471006	chr5:27510050-27560226	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	esv2763890	chr5:27521149-27544770	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
25	esv1798598	chr5:27523340-27539490	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
26	esv1801440	chr5:27524096-27559659	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1022396	chr5:27524452-27547234	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
28	esv1793119	chr5:27524452-27559659	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1794928	chr5:27524711-27539490	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
30	esv1799179	chr5:27524711-27539490	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
31	nsv528814	chr5:27524940-27539490	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv522023	chr5:27524940-27559659	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv597694	chr5:27524940-27613217	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
34	nsv1022588	chr5:27525390-27547234	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv1016640	chr5:27525895-27547234	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10213971	HDHD1	trans	lymphoblastoid	seeQTL
rs10213971	KDM5D	trans	lymphoblastoid	seeQTL
rs10213971	RNASEN	cis	parietal	SCAN
rs10213971	DDX3Y	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27532400-27533400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:27532400-27533600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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