Variant report

Variant	rs2511392
Chromosome Location	chr11:93702435-93702436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
2	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
3	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1401180	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1518567	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1518568	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1518569	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1518574	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1914724	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1960895	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2139091	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2139092	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2174638	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2174640	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2203794	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2213109	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2256323	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256426	0.96[ASN][1000 genomes]
rs2456557	0.96[ASN][1000 genomes]
rs2456564	0.84[EUR][1000 genomes]
rs2456565	0.84[EUR][1000 genomes]
rs2460038	0.85[ASN][1000 genomes]
rs2460039	0.85[ASN][1000 genomes]
rs2460051	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2462741	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2462742	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511382	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511388	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511391	0.96[ASN][1000 genomes]
rs2511404	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3495079	chr11:93694004-93703302	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495078	chr11:93694454-93703152	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2511618	chr11:93694604-93702872	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv8864	chr11:93694672-93702559	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1819337	chr11:93694753-93702531	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1821420	chr11:93695235-93703637	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1819218	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1822151	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1822360	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv983209	chr11:93695606-93702578	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2511392	SNORD6	cis	lymphoblastoid	seeQTL
rs2511392	MRAP	trans	cerebellum	SCAN
rs2511392	HEPHL1	cis	Artery Tibial	GTEx
rs2511392	FAT3	cis	parietal	SCAN
rs2511392	SRSF8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93702000-93703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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