Variant report

Variant	rs72822602
Chromosome Location	chr5:178995839-178995840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:178995834-178995859	H1-hESC	embryonic stem cell:	n/a	n/a
2	PBX3	chr5:178995689-178995890	GM12878	blood:	n/a	n/a
3	BCL3	chr5:178995617-178995986	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:178995751-178996081	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:178995592-178996159	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr5:178995722-178996000	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178992676..178996882-chr5:179050015..179052234,4	K562	blood:
2	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:
3	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:

No data

Variant related genes	Relation type
PRDX2P3	TF binding region
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs4700813	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700817	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4701135	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4701144	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58828813	0.82[ASN][1000 genomes]
rs6601049	0.87[EUR][1000 genomes]
rs72824510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72824520	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824522	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824523	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824524	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824528	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824529	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824531	0.86[EUR][1000 genomes]
rs72824532	0.87[ASN][1000 genomes]
rs72824534	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72824544	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
9	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178981200-178996200	Weak transcription	K562	blood
2	chr5:178986400-179000400	Strong transcription	Dnd41	blood
3	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:178987400-178996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:178987400-178996000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:178987400-178996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:178987400-178997400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:178987400-179000000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr5:178987400-179000200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
11	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
13	chr5:178987800-178999800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:178987800-179000000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:178987800-179017000	Strong transcription	Osteobl	bone
20	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:178988000-179000200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:178988000-179000400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr5:178988000-179000400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:178988000-179004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:178988200-178997400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:178988200-178999200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:178988200-178999200	Strong transcription	Liver	Liver
31	chr5:178988200-178999800	Strong transcription	Fetal Intestine Large	intestine
32	chr5:178988200-179000400	Strong transcription	HepG2	liver
33	chr5:178988200-179003400	Strong transcription	Placenta	Placenta
34	chr5:178988400-179000000	Strong transcription	Rectal Smooth Muscle	rectum
35	chr5:178988400-179002800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:178988600-178999800	Strong transcription	Brain Anterior Caudate	brain
40	chr5:178988800-179003200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr5:178989000-179000200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:178989000-179000200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:178989000-179000600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:178989000-179001000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:178989000-179003400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:178989000-179003600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:178989000-179006200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:178989000-179006600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:178989000-179010200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:178989200-178999600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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