Variant report

Variant	rs1249347
Chromosome Location	chr10:28612860-28612861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11006935	0.82[CHB][hapmap]
rs11006941	0.82[CHB][hapmap]
rs11006942	0.82[CHB][hapmap]
rs1148177	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148178	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148179	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148180	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148181	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148187	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1148189	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12098315	1.00[ASN][1000 genomes]
rs12098711	0.82[ASN][1000 genomes]
rs12098714	0.86[ASN][1000 genomes]
rs12098807	1.00[ASN][1000 genomes]
rs12254745	0.82[CHB][hapmap]
rs1249340	0.89[ASN][1000 genomes]
rs1249348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273097	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379320	0.82[ASN][1000 genomes]
rs16928633	0.82[CHB][hapmap]
rs1762188	0.90[ASN][1000 genomes]
rs2100614	1.00[CHB][hapmap]
rs2447629	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995539	0.82[ASN][1000 genomes]
rs34827546	1.00[ASN][1000 genomes]
rs61845947	0.90[ASN][1000 genomes]
rs7078271	0.82[CHB][hapmap]
rs7100335	0.82[CHB][hapmap]
rs72803699	0.96[ASN][1000 genomes]
rs72805609	0.96[ASN][1000 genomes]
rs72805627	1.00[ASN][1000 genomes]
rs72805630	0.93[ASN][1000 genomes]
rs72805631	0.89[ASN][1000 genomes]
rs7898888	1.00[JPT][hapmap]
rs7911615	0.82[CHB][hapmap]
rs7916525	0.82[CHB][hapmap]
rs811496	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs813081	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1044938	chr10:28601993-28659440	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28593200-28615400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:28593400-28613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:28593400-28615200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:28596800-28618800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr10:28597400-28614000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr10:28597600-28613800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:28601600-28615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:28602000-28615200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:28604000-28615600	Weak transcription	Primary T cells from cord blood	blood
10	chr10:28606000-28614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:28607000-28615600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:28607200-28614000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:28607400-28614400	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:28608000-28615000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28609200-28615600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:28609200-28615800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:28610000-28615200	Weak transcription	Right Atrium	heart
18	chr10:28611200-28613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:28611200-28614000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr10:28611800-28615600	Weak transcription	Pancreas	Pancrea
21	chr10:28612400-28614200	Weak transcription	Esophagus	oesophagus

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