Variant report

Variant	rs28613347
Chromosome Location	chr8:125213188-125213189
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125211433..125214005-chr8:125215089..125216813,2	MCF-7	breast:
2	chr8:125211776..125214598-chr8:125216310..125218448,4	MCF-7	breast:
3	chr8:125192130..125196319-chr8:125210764..125213937,4	MCF-7	breast:
4	chr8:125050056..125052985-chr8:125210899..125215246,3	MCF-7	breast:
5	chr8:125152793..125154495-chr8:125211755..125214400,2	MCF-7	breast:
6	chr8:125209984..125213201-chr8:125217353..125219383,3	K562	blood:
7	chr8:125210618..125213409-chr8:125383180..125386049,4	MCF-7	breast:
8	chr8:125212409..125214102-chr8:125244609..125246382,2	MCF-7	breast:
9	chr8:125210719..125213522-chr8:125217440..125219569,3	K562	blood:
10	chr8:125210718..125214512-chr8:125382414..125386370,9	MCF-7	breast:
11	chr8:125211750..125214142-chr8:125220839..125224672,3	MCF-7	breast:
12	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:
13	chr8:125212714..125213217-chr8:125384913..125385515,2	MCF-7	breast:
14	chr8:125212532..125214364-chr8:125222208..125224705,2	MCF-7	breast:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10095890	0.93[AFR][1000 genomes]
rs10106094	1.00[EUR][1000 genomes]
rs10109751	1.00[EUR][1000 genomes]
rs16899450	1.00[EUR][1000 genomes]
rs28459835	1.00[EUR][1000 genomes]
rs28504426	1.00[EUR][1000 genomes]
rs28618989	1.00[EUR][1000 genomes]
rs57363865	1.00[EUR][1000 genomes]
rs73329564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73329572	1.00[EUR][1000 genomes]
rs73329581	1.00[EUR][1000 genomes]
rs73332169	1.00[EUR][1000 genomes]
rs73332171	1.00[EUR][1000 genomes]
rs73332188	1.00[EUR][1000 genomes]
rs73332193	1.00[EUR][1000 genomes]
rs73333906	1.00[EUR][1000 genomes]
rs73333919	1.00[EUR][1000 genomes]
rs73333922	1.00[EUR][1000 genomes]
rs73343183	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125203000-125213200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:125206400-125213400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125206600-125214000	Weak transcription	Gastric	stomach
4	chr8:125207200-125215000	Enhancers	Fetal Lung	lung
5	chr8:125208600-125215000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:125208600-125215000	Enhancers	Psoas Muscle	Psoas
7	chr8:125209200-125214400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:125209400-125213800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:125210200-125213200	Enhancers	Fetal Thymus	thymus
10	chr8:125210200-125213400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:125210200-125215400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:125210400-125213200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:125210400-125213200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:125210400-125213200	Weak transcription	Lung	lung
15	chr8:125210400-125213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125210400-125213600	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:125210400-125214000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:125210600-125213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:125210600-125214000	Enhancers	K562	blood
20	chr8:125210600-125214200	Weak transcription	Spleen	Spleen
21	chr8:125210800-125213200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:125211200-125214400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:125211200-125215200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:125211400-125213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:125211400-125213400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:125211400-125213400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:125211400-125213800	Enhancers	HMEC	breast
28	chr8:125211600-125213400	Flanking Active TSS	A549	lung
29	chr8:125211600-125213400	Enhancers	HSMM	muscle
30	chr8:125211600-125213400	Enhancers	HSMMtube	muscle
31	chr8:125211600-125213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:125211600-125213600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:125211600-125213600	Enhancers	NHEK	skin
34	chr8:125211600-125214800	Enhancers	Fetal Muscle Leg	muscle
35	chr8:125211800-125213200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:125211800-125213200	Enhancers	Fetal Heart	heart
37	chr8:125211800-125213200	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:125211800-125213600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:125211800-125213600	Flanking Active TSS	Hela-S3	cervix
40	chr8:125211800-125214400	Enhancers	Esophagus	oesophagus
41	chr8:125211800-125214800	Enhancers	Left Ventricle	heart
42	chr8:125211800-125215000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:125212000-125213200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:125212000-125213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:125212000-125214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:125212000-125214800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:125212000-125215000	Enhancers	Right Ventricle	heart
48	chr8:125212200-125213400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:125212200-125213400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr8:125212400-125213200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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