Variant report

Variant	rs72688569
Chromosome Location	chr8:87380340-87380341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87378503..87381447-chr8:87404870..87407251,2	K562	blood:
2	chr8:87353210..87357082-chr8:87378736..87382239,4	MCF-7	breast:
3	chr8:87354025..87356247-chr8:87379465..87382514,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction
ENSG00000254231	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504824	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17607526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607671	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607762	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17682190	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41374044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688516	0.87[AMR][1000 genomes]
rs72688541	0.81[EUR][1000 genomes]
rs72688543	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688546	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688552	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688554	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	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
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
7	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
9	chr8:87359000-87383600	Weak transcription	Dnd41	blood
10	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
14	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
17	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
19	chr8:87369400-87380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:87369600-87384800	Weak transcription	A549	lung
21	chr8:87369800-87381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
23	chr8:87370600-87380400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:87371000-87381400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:87371000-87381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:87371400-87381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:87371600-87381000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
29	chr8:87373400-87381000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:87373800-87385000	Weak transcription	HepG2	liver
32	chr8:87374200-87384600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:87374800-87387000	Weak transcription	Ovary	ovary
34	chr8:87375000-87387000	Weak transcription	NHEK	skin
35	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:87375800-87384600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:87375800-87384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:87376600-87380800	Enhancers	Liver	Liver
41	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:87377200-87385800	Weak transcription	NH-A	brain
43	chr8:87377400-87380400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:87377400-87384000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:87377800-87380600	Enhancers	Fetal Heart	heart
46	chr8:87378200-87380400	Enhancers	Adipose Nuclei	Adipose
47	chr8:87378200-87380800	Enhancers	Stomach Mucosa	stomach
48	chr8:87378200-87386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:87378400-87381800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:87378400-87386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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