Variant report

Variant	rs1670178
Chromosome Location	chr8:124177121-124177122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
2	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
3	chr8:124175599..124182947-chr8:124187251..124193031,13	K562	blood:

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10096018	0.99[ASN][1000 genomes]
rs11780863	0.86[ASN][1000 genomes]
rs1563015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1563016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1563017	0.99[ASN][1000 genomes]
rs1670171	0.81[CHB][hapmap]
rs1670173	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1670174	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1670182	0.87[ASN][1000 genomes]
rs1670188	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs1670189	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs1670190	0.85[CHD][hapmap]
rs1713738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17323019	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17375962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17376270	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17376305	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2385072	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28616192	1.00[ASN][1000 genomes]
rs3107193	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3107194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739291	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs4300008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55633424	1.00[ASN][1000 genomes]
rs55720148	1.00[ASN][1000 genomes]
rs56069069	1.00[ASN][1000 genomes]
rs62521817	1.00[ASN][1000 genomes]
rs62521818	1.00[ASN][1000 genomes]
rs62521819	0.99[ASN][1000 genomes]
rs62521820	1.00[ASN][1000 genomes]
rs62521821	1.00[ASN][1000 genomes]
rs62521822	0.99[ASN][1000 genomes]
rs62521823	0.99[ASN][1000 genomes]
rs6987091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6987128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6987216	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7001536	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7008277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7011195	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7011341	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7822076	0.86[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs7831175	0.99[ASN][1000 genomes]
rs896681	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9643179	0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv521469	chr8:124172895-124177926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1670178	FAM83A-AS1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124173600-124178400	Weak transcription	HMEC	breast
2	chr8:124173600-124178600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:124173800-124177600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:124173800-124178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124173800-124178400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:124173800-124178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124173800-124178400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:124173800-124178400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:124173800-124178400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:124173800-124178400	Weak transcription	Placenta	Placenta
11	chr8:124173800-124178400	Weak transcription	Lung	lung
12	chr8:124173800-124178400	Weak transcription	Pancreas	Pancrea
13	chr8:124173800-124178400	Weak transcription	Right Atrium	heart
14	chr8:124173800-124178400	Weak transcription	NH-A	brain
15	chr8:124173800-124178600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:124173800-124178600	Weak transcription	Stomach Mucosa	stomach
17	chr8:124173800-124178600	Weak transcription	NHDF-Ad	bronchial
18	chr8:124173800-124179000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:124173800-124179000	Weak transcription	NHEK	skin
20	chr8:124173800-124179600	Weak transcription	Spleen	Spleen
21	chr8:124173800-124179800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:124174000-124177800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:124174000-124177800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:124174000-124178200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:124174000-124179000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:124174800-124178400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:124175600-124177400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:124176200-124178400	Weak transcription	Esophagus	oesophagus
29	chr8:124176200-124179000	Enhancers	K562	blood
30	chr8:124176200-124181200	Enhancers	Adipose Nuclei	Adipose
31	chr8:124176400-124178400	Enhancers	Hela-S3	cervix
32	chr8:124176800-124177200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:124177000-124178800	Enhancers	Fetal Heart	heart
34	chr8:124177000-124181000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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