Variant report

Variant	rs7565130
Chromosome Location	chr2:181989716-181989717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10176421	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10184839	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184846	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10191559	0.89[ASN][1000 genomes]
rs10194653	0.95[ASN][1000 genomes]
rs10204666	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207887	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10208742	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1040228	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040229	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1046193	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930952	0.89[ASN][1000 genomes]
rs11902472	0.98[ASN][1000 genomes]
rs11902868	1.00[ASN][1000 genomes]
rs12151685	0.83[ASN][1000 genomes]
rs12468438	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1356549	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1401133	0.89[ASN][1000 genomes]
rs1401134	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1401135	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1518451	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1518458	0.81[AFR][1000 genomes]
rs1518460	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1568258	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2139060	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2139061	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2176550	0.82[ASN][1000 genomes]
rs2368189	0.86[ASN][1000 genomes]
rs2368190	0.86[ASN][1000 genomes]
rs2368191	0.86[ASN][1000 genomes]
rs2368194	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3792220	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4077924	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575685	0.80[EUR][1000 genomes]
rs4666684	0.83[ASN][1000 genomes]
rs4666685	0.83[ASN][1000 genomes]
rs4667035	0.83[ASN][1000 genomes]
rs4667041	0.83[ASN][1000 genomes]
rs4667082	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55639120	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55851371	0.81[AFR][1000 genomes]
rs56206103	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56970984	0.86[ASN][1000 genomes]
rs58057770	0.83[ASN][1000 genomes]
rs60513343	0.80[ASN][1000 genomes]
rs61483341	0.83[ASN][1000 genomes]
rs62178778	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62178779	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62178780	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62178781	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62178784	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62178785	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62180111	0.81[AFR][1000 genomes]
rs62180124	0.81[AFR][1000 genomes]
rs62180130	0.81[AFR][1000 genomes]
rs62181564	0.83[ASN][1000 genomes]
rs62181565	0.83[ASN][1000 genomes]
rs62181569	0.83[ASN][1000 genomes]
rs62181570	0.83[ASN][1000 genomes]
rs62181571	0.83[ASN][1000 genomes]
rs62181572	0.83[ASN][1000 genomes]
rs62181573	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62181575	0.86[ASN][1000 genomes]
rs62181577	0.86[ASN][1000 genomes]
rs62181579	0.84[ASN][1000 genomes]
rs62181580	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433881	0.83[ASN][1000 genomes]
rs6433885	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433887	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433891	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433893	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709398	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6716258	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725837	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737752	0.86[ASN][1000 genomes]
rs6754913	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6759130	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72885247	0.83[ASN][1000 genomes]
rs72885292	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72887003	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7349233	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7370006	0.86[ASN][1000 genomes]
rs7370048	0.86[ASN][1000 genomes]
rs7371242	0.83[ASN][1000 genomes]
rs7371259	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs908734	0.86[ASN][1000 genomes]
rs908736	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7565130	LOC729026	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181985000-181990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:181988400-181989800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:181988400-181990200	Active TSS	Fetal Thymus	thymus
4	chr2:181988400-181991400	Flanking Active TSS	Dnd41	blood
5	chr2:181988400-181991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr2:181988600-181990200	Active TSS	Thymus	Thymus
7	chr2:181988600-181990400	Enhancers	HSMM	muscle
8	chr2:181988600-181990600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:181988600-181990800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr2:181988800-181991600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr2:181989000-181990000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:181989000-181990000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:181989000-181990000	Weak transcription	HMEC	breast
14	chr2:181989000-181992000	Weak transcription	NHEK	skin
15	chr2:181989200-181991200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:181989400-181989800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:181989400-181990000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:181989400-181990600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:181989400-181991000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:181989600-181989800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:181989600-181989800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:181989600-181990000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:181989600-181990000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:181989600-181990000	Enhancers	GM12878-XiMat	blood
25	chr2:181989600-181990600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:181989600-181991000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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