Variant report

Variant	rs8178050
Chromosome Location	chr8:48839521-48839522
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48837592..48840546-chr8:48872351..48874883,2	MCF-7	breast:
2	chr8:48837528..48840446-chr8:48849077..48850603,2	MCF-7	breast:
3	chr8:48838333..48840946-chr8:48864623..48866486,2	K562	blood:
4	chr8:48839340..48841366-chr8:48871152..48873659,2	K562	blood:

Variant related genes	Relation type
ENSG00000104738	Chromatin interaction
ENSG00000253729	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087517	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10097627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs15955	1.00[AMR][1000 genomes]
rs17287635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs3824124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45480301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45492298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45498198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45588533	1.00[EUR][1000 genomes]
rs7833492	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8178085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8178118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9792194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:48800600-48854000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:48814000-48853800	Strong transcription	A549	lung
11	chr8:48815400-48851600	Weak transcription	Stomach Mucosa	stomach
12	chr8:48819000-48844600	Strong transcription	K562	blood
13	chr8:48820000-48857400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:48820000-48871000	Strong transcription	Fetal Intestine Large	intestine
15	chr8:48820200-48853400	Strong transcription	Fetal Thymus	thymus
16	chr8:48820400-48844400	Strong transcription	Brain Germinal Matrix	brain
17	chr8:48820400-48854800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:48820400-48870000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:48820400-48870000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:48822400-48845800	Weak transcription	Fetal Heart	heart
21	chr8:48822400-48870800	Strong transcription	Liver	Liver
22	chr8:48822600-48860000	Strong transcription	Hela-S3	cervix
23	chr8:48822600-48870600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:48822600-48870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:48823200-48854600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:48823200-48870600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:48824000-48843200	Weak transcription	Fetal Brain Male	brain
28	chr8:48824200-48870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:48824800-48870000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:48826200-48839800	Weak transcription	Colonic Mucosa	Colon
31	chr8:48826600-48839600	Weak transcription	Brain Substantia Nigra	brain
32	chr8:48826600-48840000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:48826600-48848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:48826800-48841800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:48830400-48839600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:48830600-48857400	Strong transcription	HSMM	muscle
37	chr8:48830800-48857200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:48831400-48859000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:48833400-48844600	Strong transcription	HUVEC	blood vessel
40	chr8:48833600-48844600	Strong transcription	Adipose Nuclei	Adipose
41	chr8:48833800-48849400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:48833800-48870800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48833800-48870800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:48834000-48840800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr8:48834000-48844400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:48834000-48853400	Strong transcription	Placenta	Placenta
47	chr8:48834000-48856800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:48834000-48869200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:48834000-48869400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:48834000-48869400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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