Variant report

Variant	rs57692957
Chromosome Location	chr8:125721402-125721403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125712421..125715090-chr8:125719227..125721768,2	K562	blood:
2	chr8:125720957..125724014-chr8:125826711..125829294,4	K562	blood:
3	chr8:125720652..125722765-chr8:125723516..125726290,2	MCF-7	breast:
4	chr8:125717643..125720038-chr8:125720908..125723820,4	MCF-7	breast:
5	chr8:125720957..125723647-chr8:125826711..125828550,2	K562	blood:
6	chr8:125721106..125724843-chr8:125738874..125743336,4	MCF-7	breast:
7	chr8:125720272..125722297-chr8:125722800..125725618,3	MCF-7	breast:
8	chr8:125715632..125717401-chr8:125720312..125723102,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505444	1.00[EUR][1000 genomes]
rs28810782	1.00[EUR][1000 genomes]
rs56350078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57679308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58327286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345821	1.00[EUR][1000 genomes]
rs73345837	1.00[EUR][1000 genomes]
rs73345871	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345889	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345891	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73707003	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125702600-125730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:125705000-125722200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:125716000-125721600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:125716200-125724800	Enhancers	Psoas Muscle	Psoas
5	chr8:125716600-125721600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:125716800-125724800	Enhancers	Left Ventricle	heart
7	chr8:125716800-125725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:125718400-125723000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125718600-125722200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:125718600-125726600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:125718600-125727400	Enhancers	Liver	Liver
12	chr8:125719000-125722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:125719000-125722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125719200-125722000	Weak transcription	HMEC	breast
15	chr8:125719200-125722800	Weak transcription	NHEK	skin
16	chr8:125719400-125721600	Weak transcription	Fetal Brain Male	brain
17	chr8:125719400-125721600	Weak transcription	Fetal Stomach	stomach
18	chr8:125719400-125722200	Weak transcription	Esophagus	oesophagus
19	chr8:125719400-125722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:125719800-125725000	Enhancers	Spleen	Spleen
21	chr8:125720000-125722400	Enhancers	Brain Germinal Matrix	brain
22	chr8:125720000-125723000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:125720000-125724800	Enhancers	Lung	lung
24	chr8:125720200-125722400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:125720200-125722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:125720200-125722600	Enhancers	K562	blood
27	chr8:125720200-125724800	Enhancers	Fetal Heart	heart
28	chr8:125720200-125725600	Enhancers	HSMMtube	muscle
29	chr8:125720400-125721600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:125720400-125721600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:125720400-125721600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:125720400-125722200	Enhancers	Stomach Mucosa	stomach
33	chr8:125720400-125722600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:125720400-125723400	Enhancers	Brain Anterior Caudate	brain
35	chr8:125720400-125723800	Enhancers	Right Atrium	heart
36	chr8:125720400-125724000	Enhancers	Brain Angular Gyrus	brain
37	chr8:125720400-125724000	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:125720400-125724000	Enhancers	Brain Hippocampus Middle	brain
39	chr8:125720400-125724000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:125720400-125724400	Enhancers	Adipose Nuclei	Adipose
41	chr8:125720400-125725000	Enhancers	Brain Substantia Nigra	brain
42	chr8:125720600-125721800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:125720600-125721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:125720600-125721800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:125720600-125721800	Enhancers	GM12878-XiMat	blood
46	chr8:125720600-125722400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:125720600-125722600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:125720600-125722600	Enhancers	Fetal Thymus	thymus
49	chr8:125720600-125724200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:125720800-125721600	Enhancers	Primary T helper cells PMA-I stimulated	--

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