Variant report

Variant	rs6564239
Chromosome Location	chr16:75253804-75253805
allele	A/T
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	IRF1	chr16:75253701-75254078	K562	blood:	n/a	n/a
2	RUNX3	chr16:75253713-75254038	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75251309..75253963-chr16:75256152..75258523,2	K562	blood:

Variant related genes	Relation type
CTRB1	TF binding region
ENSG00000168925	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1035540	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1107593	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11149811	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs11641896	0.84[EUR][1000 genomes]
rs12918452	0.85[EUR][1000 genomes]
rs12924999	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1808427	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2870471	0.81[EUR][1000 genomes]
rs2870472	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs3169330	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs4737	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs4888361	0.84[EUR][1000 genomes]
rs4888363	0.81[EUR][1000 genomes]
rs4888364	0.83[EUR][1000 genomes]
rs4888365	0.85[EUR][1000 genomes]
rs6564241	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6564243	0.84[EUR][1000 genomes]
rs7195938	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs7202566	0.89[EUR][1000 genomes]
rs8048371	0.84[EUR][1000 genomes]
rs8048956	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8057145	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8059190	0.82[EUR][1000 genomes]
rs8061356	0.81[EUR][1000 genomes]
rs889515	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9319481	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9927264	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9928842	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv482198	chr16:75252884-75258821	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75249400-75254000	Enhancers	Placenta	Placenta
3	chr16:75250200-75254000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:75251400-75256200	Weak transcription	Right Atrium	heart
5	chr16:75251600-75261600	Weak transcription	HMEC	breast
6	chr16:75252200-75254000	Enhancers	Brain Substantia Nigra	brain
7	chr16:75252200-75255000	Active TSS	Pancreas	Pancrea
8	chr16:75252600-75254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr16:75252600-75258200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:75252600-75262000	Weak transcription	Brain Angular Gyrus	brain
11	chr16:75252800-75254600	Enhancers	Fetal Thymus	thymus
12	chr16:75253000-75254000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr16:75253000-75254600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:75253000-75256000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:75253200-75254000	Enhancers	Fetal Brain Male	brain
16	chr16:75253200-75256000	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:75253200-75256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:75253200-75261800	Weak transcription	Brain Anterior Caudate	brain
19	chr16:75253200-75263400	Weak transcription	HSMMtube	muscle
20	chr16:75253400-75254000	Flanking Active TSS	Dnd41	blood
21	chr16:75253400-75254200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr16:75253400-75261000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:75253400-75261400	Weak transcription	HSMM	muscle
24	chr16:75253600-75254000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:75253600-75254000	Active TSS	Primary hematopoietic stem cells	blood
26	chr16:75253600-75254000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:75253600-75254000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:75253600-75254000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:75253600-75254000	Flanking Active TSS	GM12878-XiMat	blood
30	chr16:75253600-75254000	Bivalent/Poised TSS	HepG2	liver
31	chr16:75253600-75254000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
32	chr16:75253600-75254000	Active TSS	NHDF-Ad	bronchial
33	chr16:75253600-75254200	Active TSS	Primary T cells fromperipheralblood	blood
34	chr16:75253600-75254200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:75253600-75254200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr16:75253600-75254400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr16:75253600-75254400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:75253800-75254000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:75253800-75254000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr16:75253800-75254000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:75253800-75254000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr16:75253800-75254000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:75253800-75254000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:75253800-75254000	Enhancers	NH-A	brain
45	chr16:75253800-75254200	Active TSS	Primary T cells from cord blood	blood
46	chr16:75253800-75254600	Enhancers	Thymus	Thymus

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