Variant report

Variant	rs678974
Chromosome Location	chr6:119482708-119482709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119459184..119461563-chr6:119481214..119483358,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12190611	0.87[EUR][1000 genomes]
rs1891540	0.87[EUR][1000 genomes]
rs2206031	0.88[ASN][1000 genomes]
rs2558	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs601575	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.93[ASN][1000 genomes]
rs608541	0.88[EUR][1000 genomes]
rs611211	0.88[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs624829	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs638368	1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs656012	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs660682	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs666655	0.88[EUR][1000 genomes]
rs682949	0.96[CEU][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs683488	0.92[EUR][1000 genomes]
rs6910397	0.96[CEU][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6916978	0.86[ASN][1000 genomes]
rs6928078	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs6934752	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs6935092	0.86[EUR][1000 genomes]
rs733259	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs733260	0.87[EUR][1000 genomes]
rs760785	0.85[ASN][1000 genomes]
rs7775389	0.96[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs916471	0.84[ASN][1000 genomes]
rs9387637	0.96[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs9398502	0.87[EUR][1000 genomes]
rs9398503	0.87[EUR][1000 genomes]
rs9398505	0.90[ASN][1000 genomes]
rs9401130	0.96[CEU][hapmap];0.86[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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs678974	FAM184A	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119477800-119482800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:119478200-119482800	Enhancers	Adipose Nuclei	Adipose
3	chr6:119479400-119492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:119480600-119483400	Weak transcription	HepG2	liver
5	chr6:119481200-119483400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:119481200-119484200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:119481600-119482800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:119481800-119482800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:119481800-119482800	Enhancers	NHDF-Ad	bronchial
10	chr6:119482000-119483000	Enhancers	Fetal Muscle Leg	muscle
11	chr6:119482000-119485000	Enhancers	Fetal Lung	lung
12	chr6:119482400-119482800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:119482400-119482800	Enhancers	HSMM	muscle
14	chr6:119482400-119483000	Enhancers	Lung	lung
15	chr6:119482400-119483200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:119482400-119483200	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:119482600-119482800	Enhancers	Placenta	Placenta
18	chr6:119482600-119483200	Enhancers	Fetal Stomach	stomach
19	chr6:119482600-119484200	Enhancers	Fetal Kidney	kidney

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