Variant report

Variant	rs127486
Chromosome Location	chr6:24952830-24952831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs374675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441572	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453666	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58362069	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608943	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618383	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620115	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621558	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654285	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24947800-24953600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:24948400-24954600	Enhancers	Fetal Thymus	thymus
3	chr6:24948400-24955800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:24949200-24953400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:24949400-24953200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr6:24950400-24988600	Weak transcription	Dnd41	blood
7	chr6:24950600-24953200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:24951200-24953200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:24951200-24960800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:24951800-24961600	Weak transcription	Spleen	Spleen
11	chr6:24952400-24954400	Enhancers	Thymus	Thymus
12	chr6:24952600-24953200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:24952600-24958400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:24952800-24953200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:24952800-24953400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:24952800-24953400	Enhancers	GM12878-XiMat	blood
17	chr6:24952800-24953600	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:24952800-24953600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:24952800-24953600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:24952800-24953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:24952800-24953800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:24952800-24953800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:24952800-24956800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:24952800-24956800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:24952800-24957000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:24952800-24957000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:24952800-24957800	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:24952800-24957800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:24952800-24958400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:24952800-24964800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:24952800-24966600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:24952800-24973200	Enhancers	Primary T helper cells fromperipheralblood	blood

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