Variant report

Variant	rs72690415
Chromosome Location	chr8:87489013-87489014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87479896-87489254	K562	blood:	n/a	n/a
2	POLR2A	chr8:87486487-87489376	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:87488915-87489074	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:87488727-87489374	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:
2	chr8:87488822..87490352-chr8:87494282..87496966,2	MCF-7	breast:
3	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
4	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
5	chr8:87487964..87489806-chr8:87491396..87493548,2	K562	blood:

No data

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000250569	Chromatin interaction
ENSG00000176623	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]
rs72690414	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
5	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
14	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
18	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:87480000-87491400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:87480600-87492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:87480800-87489200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
25	chr8:87481800-87494200	Weak transcription	Gastric	stomach
26	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
27	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
30	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
31	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
32	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
34	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
35	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:87482200-87494200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
40	chr8:87482400-87489800	Weak transcription	NHDF-Ad	bronchial
41	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:87482600-87494200	Weak transcription	K562	blood
43	chr8:87482600-87494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:87482600-87494800	Weak transcription	Lung	lung
45	chr8:87482800-87494000	Weak transcription	Fetal Stomach	stomach
46	chr8:87482800-87494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:87482800-87494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:87482800-87494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:87482800-87496400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell

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