Variant report

Variant	rs56664193
Chromosome Location	chr5:118367797-118367798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11959589	0.92[ASN][1000 genomes]
rs17144872	1.00[ASN][1000 genomes]
rs17144877	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144883	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144893	1.00[ASN][1000 genomes]
rs2084460	0.92[ASN][1000 genomes]
rs299218	0.90[EUR][1000 genomes]
rs34671950	0.92[ASN][1000 genomes]
rs4392657	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741500	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805551	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784039	0.82[ASN][1000 genomes]
rs7706037	1.00[ASN][1000 genomes]
rs7723221	0.92[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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118366000-118368000	Enhancers	Primary T cells from cord blood	blood
2	chr5:118366000-118369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:118366000-118369200	Flanking Active TSS	GM12878-XiMat	blood
4	chr5:118366200-118368000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:118366200-118369400	Enhancers	Fetal Thymus	thymus
6	chr5:118366400-118368000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr5:118366400-118368000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:118366600-118367800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:118366600-118367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:118366600-118368000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:118366600-118368000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:118366600-118368000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:118366600-118368200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:118366600-118368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118366600-118368600	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:118366600-118369200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:118366600-118369200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:118366600-118369200	Enhancers	Thymus	Thymus
19	chr5:118366600-118369400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:118366800-118367800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:118366800-118367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:118366800-118368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:118366800-118368000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:118366800-118369200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:118367200-118368000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:118367200-118368000	Enhancers	NHDF-Ad	bronchial
27	chr5:118367200-118369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:118367400-118367800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:118367400-118368400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:118367400-118369400	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:118367600-118367800	Weak transcription	Pancreas	Pancrea
32	chr5:118367600-118368000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:118367600-118368400	Enhancers	Primary B cells from cord blood	blood
34	chr5:118367600-118368600	Enhancers	Dnd41	blood
35	chr5:118367600-118369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:118367600-118369200	Enhancers	Duodenum Mucosa	Duodenum

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