Variant report

Variant	rs72690414
Chromosome Location	chr8:87484919-87484920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87482890..87486394-chr8:87519495..87522531,3	K562	blood:
2	chr8:87483086..87486857-chr8:87493543..87496770,3	MCF-7	breast:
3	chr8:87483608..87485189-chr8:87486909..87489201,2	K562	blood:
4	chr8:87484355..87486736-chr8:87488754..87491029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction
ENSG00000250569	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17609487	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17609515	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17682647	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2119537	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72688595	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72688596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72688597	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72688599	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72688600	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72688602	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690405	1.00[AMR][1000 genomes];0.91[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];1.00[EUR][1000 genomes]
rs72690413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690418	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690421	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690424	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690427	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690429	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690431	0.98[EUR][1000 genomes]
rs72690432	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690438	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690440	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690444	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690446	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690449	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690456	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690458	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690467	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690468	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690469	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690475	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690477	0.93[AMR][1000 genomes];0.87[EUR][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:122 , 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	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87444400-87488800	Weak transcription	NHLF	lung
5	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
8	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
9	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:87458800-87486200	Strong transcription	Liver	Liver
12	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:87460600-87486000	Strong transcription	Dnd41	blood
17	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:87470800-87485000	Strong transcription	Fetal Thymus	thymus
20	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:87473800-87488200	Weak transcription	Stomach Mucosa	stomach
23	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
25	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
29	chr8:87478000-87487400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:87479400-87486400	Strong transcription	Fetal Lung	lung
33	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:87480000-87486400	Strong transcription	HMEC	breast
35	chr8:87480000-87491400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:87480600-87492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:87480800-87485200	Strong transcription	GM12878-XiMat	blood
38	chr8:87480800-87485400	Strong transcription	Fetal Kidney	kidney
39	chr8:87480800-87486000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:87480800-87487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:87480800-87489200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr8:87481000-87485600	Strong transcription	HSMM	muscle
43	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
44	chr8:87481800-87486800	Weak transcription	NH-A	brain
45	chr8:87481800-87488000	Weak transcription	Psoas Muscle	Psoas
46	chr8:87481800-87494200	Weak transcription	Gastric	stomach
47	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
48	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus

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