Variant report

Variant	rs72690405
Chromosome Location	chr8:87469241-87469242
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	POLR2A	chr8:87468844-87469246	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87466679..87469243-chr8:87471872..87473839,2	K562	blood:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10504824	0.82[EUR][1000 genomes]
rs17609487	0.93[AMR][1000 genomes]
rs17609515	0.93[AMR][1000 genomes]
rs17682190	0.82[EUR][1000 genomes]
rs17682647	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2119537	0.93[AMR][1000 genomes]
rs72688595	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688596	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690409	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690411	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690412	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690413	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690414	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690415	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690418	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690421	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690423	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690424	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690427	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690429	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690431	0.89[EUR][1000 genomes]
rs72690432	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690438	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690440	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690441	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690444	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690446	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690449	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690456	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690458	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690467	0.93[AMR][1000 genomes]
rs72690468	0.93[AMR][1000 genomes]
rs72690469	0.93[AMR][1000 genomes]
rs72690475	0.93[AMR][1000 genomes]
rs72690477	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:87444400-87488800	Weak transcription	NHLF	lung
9	chr8:87447200-87476800	Weak transcription	Gastric	stomach
10	chr8:87447200-87476800	Weak transcription	Spleen	Spleen
11	chr8:87448400-87476800	Weak transcription	Aorta	Aorta
12	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:87449400-87476800	Weak transcription	Lung	lung
15	chr8:87449600-87480800	Weak transcription	Right Ventricle	heart
16	chr8:87451600-87477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:87452000-87472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
21	chr8:87453400-87475800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
23	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
24	chr8:87454000-87472400	Weak transcription	Stomach Mucosa	stomach
25	chr8:87457400-87480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:87457800-87473000	Weak transcription	Pancreas	Pancrea
28	chr8:87457800-87481000	Weak transcription	Esophagus	oesophagus
29	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:87458000-87480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:87458800-87486200	Strong transcription	Liver	Liver
33	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
34	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:87459200-87469400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:87459400-87479200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:87459800-87475000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:87460200-87477000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:87460600-87478400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr8:87460600-87486000	Strong transcription	Dnd41	blood
49	chr8:87460800-87470800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain

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