Variant report

Variant	rs1836861
Chromosome Location	chr12:29536060-29536061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29534214..29536521-chr12:29538492..29540922,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1006410	0.92[CHD][hapmap];0.93[JPT][hapmap]
rs1072724	0.81[ASN][1000 genomes]
rs10771520	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843355	1.00[YRI][hapmap]
rs10843356	1.00[YRI][hapmap]
rs10843364	1.00[YRI][hapmap]
rs10843374	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs10843376	0.86[ASN][1000 genomes]
rs10843394	1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs10843399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843401	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843402	0.80[MEX][hapmap]
rs10843419	0.92[MEX][hapmap]
rs11050168	0.93[JPT][hapmap]
rs11050179	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11050204	1.00[YRI][hapmap]
rs12229024	0.85[YRI][hapmap]
rs12299290	1.00[YRI][hapmap]
rs12303490	0.88[YRI][hapmap]
rs12304963	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12308135	1.00[YRI][hapmap]
rs12310050	1.00[YRI][hapmap]
rs12578931	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12581107	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17715086	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2288128	0.92[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2288129	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3782505	0.92[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3782510	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3948497	0.86[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap]
rs7299283	0.93[JPT][hapmap]
rs7302986	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964831	0.92[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs986072	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1836861	RP11-996F15.2	cis	lung	GTEx
rs1836861	RP11-996F15.2	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29534600-29536600	Weak transcription	HSMMtube	muscle
2	chr12:29535000-29537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29535000-29537800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:29535600-29542600	Weak transcription	Hela-S3	cervix
5	chr12:29535600-29543400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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