Variant report

Variant	rs56313744
Chromosome Location	chr8:42689397-42689398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42688180..42692034-chr8:42697379..42699248,3	MCF-7	breast:
2	chr8:42685435..42688953-chr8:42689231..42695334,5	K562	blood:

Variant related genes	Relation type
ENSG00000131931	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16891648	1.00[AMR][1000 genomes]
rs16891652	1.00[AMR][1000 genomes]
rs16891654	1.00[AMR][1000 genomes]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs57012672	1.00[AMR][1000 genomes]
rs57180588	1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AMR][1000 genomes]
rs57746820	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59320956	1.00[AMR][1000 genomes]
rs59364656	1.00[AMR][1000 genomes]
rs60748981	1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	1.00[AMR][1000 genomes]
rs73675448	1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675452	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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers 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 miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42670000-42697400	Weak transcription	Right Ventricle	heart
2	chr8:42678400-42696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:42679600-42697400	Weak transcription	Aorta	Aorta
4	chr8:42681000-42693200	Weak transcription	HepG2	liver
5	chr8:42684200-42696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:42686000-42693200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:42686800-42692800	Weak transcription	Left Ventricle	heart
8	chr8:42686800-42694200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:42686800-42696800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:42687000-42690200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:42687000-42690400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:42687000-42690400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:42687000-42691600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:42687000-42691800	Weak transcription	HSMM	muscle
15	chr8:42687000-42692000	Weak transcription	A549	lung
16	chr8:42687000-42693000	Weak transcription	Thymus	Thymus
17	chr8:42687000-42694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:42687000-42696600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:42687200-42690000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:42687200-42690600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:42687200-42692000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:42687200-42692000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:42687200-42693200	Weak transcription	Ovary	ovary
24	chr8:42687200-42695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:42687200-42695200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:42687200-42696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:42687200-42696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:42687400-42690000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:42687400-42690200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:42687400-42691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:42687600-42696400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:42687800-42690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:42688000-42692000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:42688200-42694800	Weak transcription	Pancreas	Pancrea
35	chr8:42688200-42696800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:42688400-42690400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:42688400-42691600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:42688400-42694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:42688600-42690400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:42688600-42690800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:42688600-42691400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:42688600-42692000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:42688600-42697600	Weak transcription	Spleen	Spleen
44	chr8:42688800-42690400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:42688800-42690400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:42688800-42690400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:42688800-42690400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:42688800-42690600	Weak transcription	Placenta	Placenta
49	chr8:42688800-42691200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:42688800-42693200	Weak transcription	Fetal Stomach	stomach

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