Variant report

Variant	rs7464872
Chromosome Location	chr8:54570340-54570341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54556956..54558528-chr8:54569373..54571068,2	MCF-7	breast:
2	chr8:54569929..54571839-chr8:54577373..54579144,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11988292	0.98[ASN][1000 genomes]
rs11988352	0.98[ASN][1000 genomes]
rs11991573	0.91[ASN][1000 genomes]
rs13262179	0.98[ASN][1000 genomes]
rs13281270	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28432290	0.98[ASN][1000 genomes]
rs28485002	0.98[ASN][1000 genomes]
rs28537471	0.98[ASN][1000 genomes]
rs28585586	0.98[ASN][1000 genomes]
rs28600939	0.98[ASN][1000 genomes]
rs28699488	0.98[ASN][1000 genomes]
rs28733973	0.97[ASN][1000 genomes]
rs35389837	0.98[ASN][1000 genomes]
rs35503029	0.98[ASN][1000 genomes]
rs35881966	0.98[ASN][1000 genomes]
rs35981696	0.98[ASN][1000 genomes]
rs36094567	0.98[ASN][1000 genomes]
rs55732477	0.98[ASN][1000 genomes]
rs56711910	0.98[ASN][1000 genomes]
rs57265244	0.98[ASN][1000 genomes]
rs58186810	0.98[ASN][1000 genomes]
rs61191446	0.98[ASN][1000 genomes]
rs6473882	0.98[ASN][1000 genomes]
rs6473883	0.98[ASN][1000 genomes]
rs6473884	0.98[ASN][1000 genomes]
rs6980711	0.98[ASN][1000 genomes]
rs6993279	0.98[ASN][1000 genomes]
rs6994201	0.98[ASN][1000 genomes]
rs7007030	0.98[ASN][1000 genomes]
rs7014660	0.98[ASN][1000 genomes]
rs7018412	0.98[ASN][1000 genomes]
rs73682530	0.97[ASN][1000 genomes]
rs73682531	0.97[ASN][1000 genomes]
rs7814647	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1030947	chr8:54535233-54592073	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54569000-54570800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54569200-54571000	Active TSS	Brain Substantia Nigra	brain
3	chr8:54569200-54571000	Active TSS	Fetal Brain Female	brain
4	chr8:54569400-54570600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:54569400-54570600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr8:54569400-54570600	Active TSS	Brain Angular Gyrus	brain
7	chr8:54569400-54570600	Active TSS	Brain Hippocampus Middle	brain
8	chr8:54569400-54570600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:54569400-54570800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:54569400-54570800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:54569400-54570800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:54569400-54570800	Active TSS	Brain Anterior Caudate	brain
13	chr8:54569400-54570800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:54569400-54570800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:54569400-54570800	Active TSS	Fetal Lung	lung
16	chr8:54569400-54571000	Active TSS	Fetal Kidney	kidney
17	chr8:54569400-54571000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:54569600-54570400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr8:54569600-54570400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:54569600-54570400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:54569600-54570400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:54569600-54570400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:54569600-54570400	Flanking Active TSS	NH-A	brain
24	chr8:54569600-54570600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:54569600-54570600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:54569600-54570600	Active TSS	Brain Germinal Matrix	brain
27	chr8:54569600-54570600	Active TSS	Fetal Intestine Small	intestine
28	chr8:54569600-54570600	Active TSS	Osteobl	bone
29	chr8:54569600-54570800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:54569600-54570800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:54569600-54570800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:54569600-54570800	Active TSS	Brain Cingulate Gyrus	brain
33	chr8:54569600-54570800	Active TSS	Colon Smooth Muscle	Colon
34	chr8:54569600-54570800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:54569600-54570800	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:54569600-54571000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr8:54569600-54571000	Active TSS	Ovary	ovary
38	chr8:54569600-54571000	Active TSS	Right Atrium	heart
39	chr8:54569600-54571000	Active TSS	NHDF-Ad	bronchial
40	chr8:54569600-54571200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:54569600-54571400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:54569800-54570400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:54569800-54570400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr8:54569800-54570400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:54569800-54570400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:54569800-54570400	Flanking Active TSS	Liver	Liver
47	chr8:54569800-54570400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr8:54569800-54570400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr8:54569800-54570600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:54569800-54570600	Active TSS	Fetal Intestine Large	intestine

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