Variant report

Variant	rs7988601
Chromosome Location	chr13:80049783-80049784
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	chr13:80044193..80046856-chr13:80049312..80052188,3	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1208049	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1212082	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12865187	0.81[JPT][hapmap]
rs12871015	0.81[JPT][hapmap]
rs12877507	0.81[JPT][hapmap]
rs1324868	0.81[JPT][hapmap]
rs1335368	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1335370	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1408049	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1408658	0.81[JPT][hapmap]
rs1409018	0.81[JPT][hapmap]
rs1410336	0.81[JPT][hapmap]
rs1414155	0.87[ASN][1000 genomes]
rs1414156	0.87[ASN][1000 genomes]
rs1475797	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1577416	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1577418	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1748761	0.87[JPT][hapmap]
rs1752648	0.81[JPT][hapmap]
rs1752649	0.81[JPT][hapmap]
rs1853830	0.87[JPT][hapmap]
rs2025913	0.81[JPT][hapmap]
rs2057573	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs2065743	0.89[ASN][1000 genomes]
rs2182009	0.81[JPT][hapmap]
rs2182010	0.81[JPT][hapmap]
rs2182873	0.81[JPT][hapmap]
rs2265377	0.92[JPT][hapmap]
rs2265378	1.00[ASW][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap]
rs2274555	0.81[JPT][hapmap]
rs2476173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2484343	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2484345	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2760101	0.88[ASN][1000 genomes]
rs2760102	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2760103	0.86[ASN][1000 genomes]
rs2760105	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760106	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2763809	0.87[JPT][hapmap]
rs2763810	0.87[JPT][hapmap];0.81[MEX][hapmap]
rs2783119	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2783120	0.91[ASN][1000 genomes]
rs2783121	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2783122	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2783125	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2783126	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2876740	0.87[JPT][hapmap];0.81[MEX][hapmap]
rs314687	0.85[ASN][1000 genomes]
rs314688	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3187338	0.80[JPT][hapmap];0.81[MEX][hapmap]
rs3742118	0.81[JPT][hapmap]
rs3742119	0.89[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs3742122	0.81[JPT][hapmap]
rs3752994	0.81[JPT][hapmap]
rs3818563	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs386603	0.87[ASN][1000 genomes]
rs3903388	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs4145207	0.94[ASN][1000 genomes]
rs4146473	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs4476060	0.89[ASN][1000 genomes]
rs4885633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885634	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885636	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs643778	1.00[ASW][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs6563098	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs6563100	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs6563104	0.81[JPT][hapmap]
rs6563110	0.89[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563113	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563115	0.91[ASN][1000 genomes]
rs6563116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs700396	0.87[ASN][1000 genomes]
rs7317343	0.81[JPT][hapmap]
rs7317416	0.81[JPT][hapmap]
rs7319252	0.81[JPT][hapmap]
rs7319320	0.81[JPT][hapmap]
rs7321953	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7322167	0.81[JPT][hapmap]
rs7322673	0.81[JPT][hapmap]
rs73235963	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7325095	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7327386	0.81[JPT][hapmap]
rs7327603	0.80[JPT][hapmap]
rs7328494	0.93[JPT][hapmap]
rs7329331	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs7331872	0.81[JPT][hapmap]
rs7332367	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs7332913	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs7336581	0.80[JPT][hapmap]
rs7338530	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339303	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7981067	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs7982263	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7987193	0.87[JPT][hapmap]
rs7987769	0.81[JPT][hapmap]
rs7988784	0.81[JPT][hapmap]
rs7990344	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7996493	0.96[ASN][1000 genomes]
rs7996652	0.81[JPT][hapmap]
rs7998837	0.81[JPT][hapmap]
rs8001281	0.87[JPT][hapmap]
rs8002042	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs912639	0.87[JPT][hapmap];0.81[MEX][hapmap]
rs9318621	0.81[JPT][hapmap]
rs9318625	0.81[JPT][hapmap]
rs9318626	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs9318627	0.88[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs9318640	0.86[JPT][hapmap]
rs9318641	0.86[JPT][hapmap]
rs9318644	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530901	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs9530913	0.80[JPT][hapmap]
rs9530914	0.81[JPT][hapmap]
rs9530922	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530925	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545065	0.81[JPT][hapmap]
rs9545067	1.00[ASW][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap]
rs9545076	0.80[JPT][hapmap];0.81[MEX][hapmap]
rs9545083	0.81[JPT][hapmap]
rs9545085	0.81[JPT][hapmap]
rs9545086	0.92[CEU][hapmap];0.80[JPT][hapmap]
rs9545087	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs9545097	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs9545101	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs9545142	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9565486	0.81[JPT][hapmap]
rs9565489	0.81[JPT][hapmap]
rs9565497	0.87[JPT][hapmap]
rs9565510	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9574409	1.00[ASW][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap]
rs9574416	0.81[JPT][hapmap]
rs9574418	0.82[AMR][1000 genomes]
rs9574422	0.92[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs9574429	0.89[ASN][1000 genomes]
rs9574434	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9593396	0.92[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs9593399	0.89[ASN][1000 genomes]
rs9601240	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9601242	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs987284	1.00[JPT][hapmap];0.87[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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7988601	RP11-25J23.3	cis	Thyroid	GTEx
rs7988601	DERA	trans	parietal	SCAN
rs7988601	SLAIN1	cis	cerebellum	SCAN
rs7988601	RBM26	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80048400-80053600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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