Variant report

Variant	rs56270084
Chromosome Location	chr5:79921949-79921950
allele	C/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	POLR2A	chr5:79918876-79922051	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000251221	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10054574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057770	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072026	0.90[EUR][1000 genomes]
rs10077031	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10213944	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474632	0.86[EUR][1000 genomes]
rs10474634	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11741448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742668	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11742720	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11749051	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355622	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151606	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6151640	0.88[EUR][1000 genomes]
rs6151655	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6453522	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67695365	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765574	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72765575	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79904800-79925000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:79906600-79949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:79909800-79927200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:79910600-79927000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:79911600-79925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:79911600-79925400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:79911800-79925200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:79911800-79927200	Weak transcription	HMEC	breast
9	chr5:79912000-79926400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:79912000-79926600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:79912000-79938000	Weak transcription	Brain Anterior Caudate	brain
12	chr5:79912200-79928600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:79912200-79948000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:79912400-79925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:79912800-79925200	Weak transcription	Fetal Thymus	thymus
16	chr5:79913200-79925200	Weak transcription	Hela-S3	cervix
17	chr5:79913200-79949000	Weak transcription	Spleen	Spleen
18	chr5:79913400-79926800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:79913600-79925000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:79913600-79949400	Weak transcription	Esophagus	oesophagus
21	chr5:79913800-79927200	Weak transcription	A549	lung
22	chr5:79914200-79949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:79914600-79925600	Weak transcription	Fetal Stomach	stomach
24	chr5:79914800-79927400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:79915400-79925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:79915400-79925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:79915400-79949200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:79915600-79934600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:79915800-79925200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:79915800-79925400	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:79915800-79927200	Weak transcription	Aorta	Aorta
32	chr5:79916200-79924400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:79916200-79925000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:79916200-79927200	Weak transcription	Osteobl	bone
35	chr5:79916200-79936200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:79916400-79932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:79916600-79949400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:79916800-79925600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:79917000-79925000	Weak transcription	HSMM	muscle
40	chr5:79917000-79935800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:79917800-79925600	Weak transcription	Thymus	Thymus
42	chr5:79918600-79924400	Weak transcription	Dnd41	blood
43	chr5:79918800-79927200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:79919000-79936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:79919200-79925000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:79919200-79925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:79919400-79925200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:79919600-79925000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:79919600-79925200	Weak transcription	GM12878-XiMat	blood
50	chr5:79919600-79949200	Weak transcription	Colonic Mucosa	Colon

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