Variant report

Variant	rs12595229
Chromosome Location	chr15:54747125-54747126
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	chr15:54627743..54629757-chr15:54746231..54748915,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10518767	0.81[CEU][hapmap]
rs10744957	0.93[JPT][hapmap]
rs11071082	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs11071084	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs11636139	0.86[JPT][hapmap]
rs11636568	0.84[ASN][1000 genomes]
rs11636573	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs11638413	0.81[AFR][1000 genomes]
rs11858004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs12148262	0.96[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs12437618	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs12438368	0.81[AFR][1000 genomes]
rs12441633	0.81[AFR][1000 genomes]
rs12442784	0.85[ASN][1000 genomes]
rs12442847	0.85[ASN][1000 genomes]
rs12595197	0.82[AFR][1000 genomes]
rs12907044	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs12915430	0.81[CEU][hapmap]
rs12916571	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs12917122	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1356859	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs1402112	0.82[ASN][1000 genomes]
rs1851004	0.83[ASN][1000 genomes]
rs2414308	0.88[ASW][hapmap];0.96[CEU][hapmap];0.83[GIH][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap]
rs2414310	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2414315	0.93[JPT][hapmap]
rs2414321	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs28675256	0.84[ASN][1000 genomes]
rs2899541	0.96[CEU][hapmap]
rs34298302	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4354874	0.84[CEU][hapmap];0.81[MKK][hapmap];0.92[YRI][hapmap]
rs4457946	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs4506836	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs4641682	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs473676	0.93[JPT][hapmap]
rs4774695	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs4774696	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs4776231	0.88[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap]
rs4776233	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs4776234	0.81[CEU][hapmap]
rs5017619	0.85[ASN][1000 genomes]
rs556837	0.93[JPT][hapmap]
rs582890	0.93[JPT][hapmap]
rs6493681	0.86[JPT][hapmap]
rs6493682	0.93[JPT][hapmap]
rs6493685	0.81[AFR][1000 genomes]
rs71397588	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7178299	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8023474	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap]
rs8023499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs8024652	0.93[YRI][hapmap]
rs8025195	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs8027041	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027984	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8033437	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8038538	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs8039515	0.81[CEU][hapmap]
rs885203	0.94[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.82[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap]
rs885204	1.00[CEU][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv904230	chr15:54685463-54779312	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv457150	chr15:54685463-54787358	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv569501	chr15:54685463-54787358	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv457151	chr15:54699197-54787358	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv569502	chr15:54699197-54787358	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv904231	chr15:54703195-54771880	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv904232	chr15:54703195-54787358	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv904233	chr15:54703195-54797177	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv569503	chr15:54705902-54771880	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv457153	chr15:54705902-54795040	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv569504	chr15:54705902-54795040	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv904234	chr15:54710873-54779312	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv904235	chr15:54710873-54795040	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv569505	chr15:54715550-54775229	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv569506	chr15:54715550-54796592	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv569507	chr15:54730223-54787358	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3448550	chr15:54744960-54748958	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12595229	TMEM229A	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54745600-54752200	Weak transcription	Aorta	Aorta

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