Variant report

Variant	rs7673290
Chromosome Location	chr4:158919487-158919488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:158918095..158920642-chr4:159082633..159084601,2	MCF-7	breast:
2	chr4:158914380..158920879-chr4:159079921..159084466,8	MCF-7	breast:
3	chr4:158919143..158920699-chr4:159079819..159081995,2	MCF-7	breast:
4	chr4:158918921..158921265-chr4:158960546..158962427,2	MCF-7	breast:
5	chr4:158912006..158922011-chr4:159085009..159099282,46	MCF-7	breast:
6	chr4:158908850..158922778-chr4:159084957..159098830,43	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248429	Chromatin interaction
ENSG00000164125	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10005901	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10027000	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10049927	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137826	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28635553	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4072170	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4077776	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077777	0.83[EUR][1000 genomes]
rs4487405	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4504305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4521391	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4574459	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615226	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4631100	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691447	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66490968	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6847800	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6848159	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7657303	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682867	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9991381	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7673290	FAM198B	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158913800-158928200	Weak transcription	HSMM	muscle
2	chr4:158913800-158930000	Weak transcription	Right Atrium	heart
3	chr4:158914400-158923400	Weak transcription	Fetal Heart	heart
4	chr4:158915000-158924000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:158916400-158921400	Enhancers	HepG2	liver
6	chr4:158916400-158923000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:158917800-158919800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:158917800-158922800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:158917800-158926400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:158918200-158923000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:158918800-158923000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:158918800-158923000	Weak transcription	HUVEC	blood vessel
13	chr4:158919000-158922600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:158919200-158919600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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