Variant report

Variant	rs6986704
Chromosome Location	chr8:86061866-86061867
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	chr8:86060198..86062615-chr9:33441371..33443462,2	MCF-7	breast:
2	chr8:86060046..86062582-chr8:86088601..86090458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260493	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000165272	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10088120	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10091577	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10091710	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10100442	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11261468	0.94[ASN][1000 genomes]
rs12926	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13249364	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13269031	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2278459	0.81[ASN][1000 genomes]
rs2403082	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403084	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2403085	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2403086	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2403087	0.95[ASN][1000 genomes]
rs2403088	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403089	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621707	0.88[EUR][1000 genomes]
rs2896452	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2896453	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2896454	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3779899	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4150859	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4150862	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150865	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4150867	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150868	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150869	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150884	0.92[EUR][1000 genomes]
rs4150893	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4150897	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4150942	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4740043	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62527168	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62527173	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6605609	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6605624	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6605625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990256	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004765	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7007304	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7008032	0.86[EUR][1000 genomes]
rs7010228	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7015758	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72682904	0.96[ASN][1000 genomes]
rs7814435	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818090	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823218	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7829050	0.94[EUR][1000 genomes]
rs7829144	0.94[ASN][1000 genomes]
rs7838900	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7841142	0.95[ASN][1000 genomes]
rs7842013	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6986704	LRRCC1	cis	Esophagus Mucosa	GTEx
rs6986704	LRRCC1	cis	Artery Tibial	GTEx
rs6986704	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs6986704	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86020400-86062600	Weak transcription	Pancreas	Pancrea
2	chr8:86040600-86062000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:86046600-86064800	Weak transcription	Thymus	Thymus
4	chr8:86046600-86065800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:86049400-86065800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:86055000-86062400	Weak transcription	Dnd41	blood
7	chr8:86060000-86062400	Weak transcription	K562	blood
8	chr8:86061200-86062200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:86061200-86062400	Enhancers	Brain Anterior Caudate	brain
10	chr8:86061400-86062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:86061400-86062200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:86061600-86062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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