Variant report

Variant	rs28668142
Chromosome Location	chr8:124077885-124077886
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124054275..124057191-chr8:124076210..124079484,3	MCF-7	breast:
2	chr8:123793421..123794960-chr8:124077770..124080571,2	MCF-7	breast:
3	chr8:124077769..124078480-chr8:124232524..124233054,2	MCF-7	breast:
4	chr8:124077603..124078531-chr8:124166926..124167554,3	MCF-7	breast:
5	chr8:123685412..123686397-chr8:124077554..124078514,7	MCF-7	breast:
6	chr8:124069096..124071652-chr8:124075754..124077985,3	K562	blood:
7	chr8:124034555..124035357-chr8:124077782..124078492,2	MCF-7	breast:
8	chr8:123745475..123746487-chr8:124077662..124078438,3	MCF-7	breast:
9	chr8:124075297..124079575-chr8:124082426..124088031,8	K562	blood:
10	chr8:123686400..123687334-chr8:124077614..124078133,2	MCF-7	breast:
11	chr8:124076547..124079537-chr8:124192382..124193951,2	K562	blood:
12	chr8:124030866..124031550-chr8:124077792..124078338,2	MCF-7	breast:
13	chr8:124031334..124032257-chr8:124077436..124078207,2	K562	blood:
14	chr8:124071456..124074459-chr8:124076341..124079659,4	MCF-7	breast:
15	chr8:123689727..123690355-chr8:124077588..124078457,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000199678	Chromatin interaction
ENSG00000178764	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10112234	1.00[AMR][1000 genomes]
rs28472858	1.00[AMR][1000 genomes]
rs28485492	1.00[AMR][1000 genomes]
rs28520053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582857	1.00[AMR][1000 genomes]
rs28654188	1.00[AMR][1000 genomes]
rs34795458	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124077200-124078800	Enhancers	Fetal Thymus	thymus
2	chr8:124077400-124078000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:124077400-124078400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:124077600-124078000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124077600-124078000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr8:124077600-124078000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124077600-124078000	Enhancers	Hela-S3	cervix
8	chr8:124077600-124078000	Enhancers	Osteobl	bone
9	chr8:124077600-124078400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:124077600-124078400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:124077600-124078400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:124077600-124078400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:124077600-124078400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:124077600-124078400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:124077600-124078400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:124077600-124078400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:124077600-124078400	Enhancers	Fetal Heart	heart
18	chr8:124077600-124078400	Enhancers	Thymus	Thymus
19	chr8:124077600-124078400	Enhancers	A549	lung
20	chr8:124077600-124078400	Enhancers	HSMMtube	muscle
21	chr8:124077600-124078400	Enhancers	K562	blood
22	chr8:124077600-124078600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:124077600-124078600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:124077600-124079000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:124077800-124078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:124077800-124078000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:124077800-124078000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:124077800-124078000	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:124077800-124078000	Enhancers	GM12878-XiMat	blood
30	chr8:124077800-124078000	Enhancers	NHDF-Ad	bronchial
31	chr8:124077800-124078200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:124077800-124078200	Enhancers	Brain Anterior Caudate	brain
33	chr8:124077800-124078200	Enhancers	Brain Substantia Nigra	brain
34	chr8:124077800-124078200	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:124077800-124078200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:124077800-124078200	Enhancers	Small Intestine	intestine
37	chr8:124077800-124078200	Flanking Active TSS	HepG2	liver
38	chr8:124077800-124078400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:124077800-124078400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:124077800-124078400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:124077800-124078400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:124077800-124078400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:124077800-124078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:124077800-124078400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:124077800-124078400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:124077800-124078400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:124077800-124078400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:124077800-124078400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:124077800-124078400	Enhancers	Fetal Muscle Leg	muscle
50	chr8:124077800-124078400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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