Variant report

Variant	rs59692764
Chromosome Location	chr8:125214220-125214221
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	chr8:125211776..125214598-chr8:125216310..125218448,4	MCF-7	breast:
2	chr8:125050056..125052985-chr8:125210899..125215246,3	MCF-7	breast:
3	chr8:125152793..125154495-chr8:125211755..125214400,2	MCF-7	breast:
4	chr8:125208503..125210106-chr8:125213330..125215003,2	K562	blood:
5	chr8:125210718..125214512-chr8:125382414..125386370,9	MCF-7	breast:
6	chr8:125214006..125215805-chr8:125384508..125386541,2	MCF-7	breast:
7	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:
8	chr8:125212532..125214364-chr8:125222208..125224705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250727	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11985624	1.00[EUR][1000 genomes]
rs11986399	1.00[EUR][1000 genomes]
rs11988179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993616	1.00[EUR][1000 genomes]
rs16899392	1.00[EUR][1000 genomes]
rs16899395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899398	1.00[EUR][1000 genomes]
rs16899412	1.00[EUR][1000 genomes]
rs16899415	1.00[EUR][1000 genomes]
rs55665685	1.00[EUR][1000 genomes]
rs55983716	1.00[EUR][1000 genomes]
rs56187466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56245137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293000	1.00[EUR][1000 genomes]
rs56348823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60849706	1.00[EUR][1000 genomes]
rs61668924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470234	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6980940	1.00[EUR][1000 genomes]
rs6991501	1.00[EUR][1000 genomes]
rs6999329	1.00[EUR][1000 genomes]
rs7003668	1.00[EUR][1000 genomes]
rs7003913	1.00[EUR][1000 genomes]
rs73328371	1.00[EUR][1000 genomes]
rs73703979	1.00[EUR][1000 genomes]
rs73703980	1.00[EUR][1000 genomes]
rs73703982	1.00[EUR][1000 genomes]
rs73703990	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73703992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703993	1.00[EUR][1000 genomes]
rs73703995	1.00[EUR][1000 genomes]
rs73703996	1.00[EUR][1000 genomes]
rs73703997	1.00[EUR][1000 genomes]
rs73703999	1.00[EUR][1000 genomes]
rs73704000	1.00[EUR][1000 genomes]
rs73704001	1.00[EUR][1000 genomes]
rs7816741	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
2	chr8:125208600-125215000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:125208600-125215000	Enhancers	Psoas Muscle	Psoas
4	chr8:125209200-125214400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:125210200-125215400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:125211200-125214400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:125211200-125215200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:125211600-125214800	Enhancers	Fetal Muscle Leg	muscle
9	chr8:125211800-125214400	Enhancers	Esophagus	oesophagus
10	chr8:125211800-125214800	Enhancers	Left Ventricle	heart
11	chr8:125211800-125215000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:125212000-125214800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125212000-125215000	Enhancers	Right Ventricle	heart
14	chr8:125212600-125214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:125212800-125214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:125212800-125215200	Enhancers	HUVEC	blood vessel
17	chr8:125213200-125214400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:125213200-125214400	Weak transcription	Fetal Thymus	thymus
19	chr8:125213200-125214600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:125213200-125214800	Enhancers	Lung	lung
21	chr8:125213400-125215000	Enhancers	Right Atrium	heart
22	chr8:125213400-125216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:125213400-125216800	Enhancers	A549	lung
24	chr8:125213400-125219400	Weak transcription	HSMMtube	muscle
25	chr8:125213400-125219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:125213400-125220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:125213600-125214400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:125213600-125214800	Enhancers	Hela-S3	cervix
29	chr8:125213600-125216400	Weak transcription	NHDF-Ad	bronchial
30	chr8:125213800-125214800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:125213800-125214800	Enhancers	Fetal Heart	heart
32	chr8:125213800-125218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:125213800-125220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:125214000-125214400	Weak transcription	K562	blood
35	chr8:125214000-125214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:125214000-125215000	Enhancers	Gastric	stomach
37	chr8:125214200-125214400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:125214200-125214400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr8:125214200-125214600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:125214200-125214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:125214200-125214800	Enhancers	Spleen	Spleen

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