Variant report

Variant	rs16878586
Chromosome Location	chr5:80596222-80596223
allele	A/G
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	CEBPB	chr5:80596138-80596395	K562	blood:	n/a	n/a
2	CEBPB	chr5:80596141-80596398	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:80596214-80597691	K562	blood:	n/a	n/a
4	CEBPB	chr5:80596116-80596439	A549	lung:	n/a	n/a
5	CEBPB	chr5:80596124-80596416	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80580034..80582470-chr5:80593982..80596791,2	K562	blood:
2	chr17:79369420..79370958-chr5:80594929..80596916,2	MCF-7	breast:

Variant related genes	Relation type
ZCCHC9	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1039326	0.82[CHB][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs12516414	0.90[JPT][hapmap]
rs12652649	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12653169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12653916	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12654520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12657721	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12658249	0.80[MEX][hapmap]
rs12659947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16876403	0.90[JPT][hapmap]
rs2277037	0.90[JPT][hapmap]
rs2291942	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3776980	0.91[MEX][hapmap]
rs4703828	0.90[JPT][hapmap]
rs4703829	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704716	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4704717	0.90[JPT][hapmap]
rs55660685	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56270508	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57802618	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58471723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59621118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61696419	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80588200-80596400	Weak transcription	Right Ventricle	heart
2	chr5:80588400-80596400	Weak transcription	Psoas Muscle	Psoas
3	chr5:80593200-80596600	Enhancers	Fetal Heart	heart
4	chr5:80593800-80599800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:80594200-80596600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:80594600-80596400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:80594600-80596400	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:80594800-80596400	Enhancers	HSMMtube	muscle
9	chr5:80595000-80596400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:80595000-80596400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:80595000-80596400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:80595000-80596400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:80595000-80596400	Enhancers	Fetal Intestine Small	intestine
14	chr5:80595000-80596400	Enhancers	Fetal Stomach	stomach
15	chr5:80595000-80596600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:80595000-80596800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:80595000-80596800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:80595000-80597000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:80595000-80597000	Flanking Active TSS	Dnd41	blood
20	chr5:80595200-80596400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:80595200-80596400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:80595200-80596400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:80595200-80596400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:80595200-80596400	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:80595200-80596400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:80595200-80596600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:80595200-80596600	Enhancers	Primary B cells from peripheral blood	blood
28	chr5:80595200-80596600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:80595200-80596600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr5:80595200-80596800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:80595200-80596800	Flanking Active TSS	Liver	Liver
32	chr5:80595200-80596800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:80595200-80598200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:80595200-80598200	Active TSS	Right Atrium	heart
35	chr5:80595200-80598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr5:80595400-80598200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr5:80595400-80598200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:80595400-80598600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:80595400-80598800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:80595600-80596400	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:80595600-80596400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr5:80595600-80596400	Enhancers	Adipose Nuclei	Adipose
43	chr5:80595600-80596400	Enhancers	Brain Substantia Nigra	brain
44	chr5:80595600-80596400	Enhancers	NHDF-Ad	bronchial
45	chr5:80595800-80596400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:80595800-80596400	Enhancers	Colonic Mucosa	Colon
47	chr5:80595800-80596400	Enhancers	Fetal Muscle Trunk	muscle
48	chr5:80595800-80596400	Enhancers	Placenta	Placenta
49	chr5:80595800-80596400	Enhancers	Fetal Thymus	thymus
50	chr5:80595800-80596400	Enhancers	Left Ventricle	heart

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