Variant report

Variant	rs531084
Chromosome Location	chr13:30527862-30527863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10467438	1.00[ASN][1000 genomes]
rs11147402	1.00[ASN][1000 genomes]
rs11147403	0.83[ASN][1000 genomes]
rs11619001	1.00[ASN][1000 genomes]
rs11619980	1.00[ASN][1000 genomes]
rs11620184	1.00[ASN][1000 genomes]
rs3803269	1.00[ASN][1000 genomes]
rs3803271	1.00[ASN][1000 genomes]
rs475607	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485057	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486677	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503693	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs548941	1.00[ASN][1000 genomes]
rs562459	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565264	0.83[ASN][1000 genomes]
rs567291	0.83[ASN][1000 genomes]
rs571307	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572055	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573132	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584801	0.83[ASN][1000 genomes]
rs585231	0.83[ASN][1000 genomes]
rs586146	0.83[ASN][1000 genomes]
rs586167	0.83[ASN][1000 genomes]
rs588372	0.91[EUR][1000 genomes]
rs602388	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602884	1.00[ASN][1000 genomes]
rs605464	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605478	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618877	1.00[ASN][1000 genomes]
rs619367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632214	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632258	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633496	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646983	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647790	0.81[EUR][1000 genomes]
rs647794	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651873	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662224	0.83[ASN][1000 genomes]
rs669105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679603	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs716801	1.00[ASN][1000 genomes]
rs73159307	1.00[ASN][1000 genomes]
rs7338743	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7358963	1.00[ASN][1000 genomes]
rs7996122	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818606	0.83[ASN][1000 genomes]
rs818607	0.83[ASN][1000 genomes]
rs818608	0.83[ASN][1000 genomes]
rs865324	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912785	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285067	1.00[ASN][1000 genomes]
rs9285068	1.00[ASN][1000 genomes]
rs9578150	1.00[ASN][1000 genomes]
rs9579501	1.00[ASN][1000 genomes]
rs9579505	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:30523200-30529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30524400-30528200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:30525800-30528000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr13:30525800-30528200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:30526200-30528000	Enhancers	Primary T cells from cord blood	blood
7	chr13:30526200-30528000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:30526400-30528000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr13:30526400-30528200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr13:30526600-30528000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr13:30526600-30528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:30526600-30528200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:30526600-30528200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:30526800-30528400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:30527000-30528000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:30527200-30528200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr13:30527400-30528400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr13:30527600-30529200	Enhancers	Fetal Thymus	thymus
19	chr13:30527600-30529600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:30527800-30528000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:30527800-30528000	Enhancers	Primary B cells from cord blood	blood
22	chr13:30527800-30528200	Enhancers	Thymus	Thymus
23	chr13:30527800-30528400	Enhancers	Primary B cells from peripheral blood	blood
24	chr13:30527800-30528800	Enhancers	Adipose Nuclei	Adipose

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