Variant report

Variant	rs11811771
Chromosome Location	chr1:114463049-114463050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10732635	0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.83[ASN][1000 genomes]
rs10858024	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2358996	0.84[GIH][hapmap];0.85[LWK][hapmap]
rs36064592	0.91[AFR][1000 genomes]
rs3789614	0.84[GIH][hapmap]
rs6673273	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11811771	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL
rs11811771	PTPN22	cis	parietal	SCAN
rs11811771	DCLRE1B	cis	lymphoblastoid	seeQTL
rs11811771	DCLRE1B	cis	multi-tissue	Pritchard
rs11811771	CASQ2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114449800-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:114455800-114465400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:114456000-114463600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:114456200-114465400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:114456200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:114456200-114470600	Weak transcription	Brain Substantia Nigra	brain
7	chr1:114456200-114471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:114456400-114470400	Weak transcription	HSMM	muscle
9	chr1:114457200-114470600	Weak transcription	Primary T cells from cord blood	blood
10	chr1:114457600-114470400	Weak transcription	Fetal Thymus	thymus
11	chr1:114459200-114470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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