Variant report

Variant	rs160046
Chromosome Location	chr6:25038723-25038724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:25038594-25038854	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr6:25038719-25038809	GM12878	blood:	n/a	n/a
3	SETDB1	chr6:25038562-25038973	U2OS	brain:	n/a	n/a
4	RCOR1	chr6:25038658-25038801	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:25038610-25038915	GM12878	blood:	n/a	n/a
6	ZNF143	chr6:25038608-25038851	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25032692..25035035-chr6:25036206..25038734,3	K562	blood:

Variant related genes	Relation type
ENSG00000229313	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs303030	0.84[ASN][1000 genomes]
rs303895	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303896	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs303898	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303899	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303900	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303901	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9379708	0.82[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	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	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
4	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
5	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25035200-25041200	Weak transcription	Fetal Kidney	kidney
2	chr6:25035200-25044600	Weak transcription	Right Atrium	heart
3	chr6:25035800-25039400	Weak transcription	Liver	Liver
4	chr6:25035800-25040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:25035800-25041000	Enhancers	Fetal Thymus	thymus
6	chr6:25036000-25038800	Weak transcription	Spleen	Spleen
7	chr6:25036000-25042400	Weak transcription	Lung	lung
8	chr6:25036400-25039000	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:25036400-25040600	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:25036400-25041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:25036400-25041000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:25036600-25038800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:25036600-25038800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:25036600-25039000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:25036600-25039400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:25036600-25040600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:25036600-25041200	Weak transcription	NH-A	brain
18	chr6:25036600-25041800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:25037000-25038800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:25037000-25041000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:25037200-25039000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:25037400-25038800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:25037600-25039000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:25037600-25039000	Weak transcription	Thymus	Thymus
25	chr6:25037800-25039400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:25038400-25038800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:25038400-25039200	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr6:25038400-25039400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:25038400-25040600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:25038600-25039000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:25038600-25039000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:25038600-25039000	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr6:25038600-25040000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:25038600-25041200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:25038600-25041400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:25038600-25042200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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