Variant report

Variant	rs8074700
Chromosome Location	chr17:46749791-46749792
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46748343..46750795-chr17:46752847..46755076,2	K562	blood:
2	chr17:46749070..46750038-chr17:46868565..46869067,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11651606	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12450229	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326017	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs34766301	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34902690	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3744772	0.81[CEU][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs4793599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793966	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4793968	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718079	0.85[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs7215276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071699	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
3	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
4	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
6	esv13317	chr17:46732109-46783718	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1063497	chr17:46734754-46782993	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1060931	chr17:46735217-46774640	Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1060733	chr17:46735217-46775586	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1055273	chr17:46735217-46784388	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1061776	chr17:46737526-46781977	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
12	esv2757661	chr17:46738883-46763403	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
13	esv2761961	chr17:46742149-46763403	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv575484	chr17:46749791-46780829	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Body mass index in non-asthmatics	23517042	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8074700	RPS5	trans	parietal	SCAN
rs8074700	HOXB2	cis	cerebellum	SCAN
rs8074700	TTLL6	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46749000-46749800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:46749000-46749800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:46749200-46749800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:46749200-46749800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46749200-46749800	Bivalent/Poised TSS	Fetal Lung	lung
6	chr17:46749200-46749800	Bivalent/Poised TSS	Right Atrium	heart
7	chr17:46749200-46749800	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr17:46749400-46749800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:46749400-46749800	Enhancers	Placenta	Placenta
10	chr17:46749400-46749800	Active TSS	Rectal Smooth Muscle	rectum
11	chr17:46749600-46749800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:46749600-46749800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:46749600-46749800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr17:46749600-46749800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:46749600-46749800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:46749600-46749800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr17:46749600-46749800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:46749600-46749800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr17:46749600-46749800	Enhancers	Brain Hippocampus Middle	brain
20	chr17:46749600-46749800	Enhancers	Colon Smooth Muscle	Colon
21	chr17:46749600-46749800	Enhancers	Duodenum Mucosa	Duodenum
22	chr17:46749600-46749800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr17:46749600-46749800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr17:46749600-46749800	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr17:46749600-46749800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr17:46749600-46749800	Enhancers	A549	lung
27	chr17:46749600-46749800	Enhancers	Hela-S3	cervix
28	chr17:46749600-46749800	Bivalent Enhancer	HepG2	liver
29	chr17:46749600-46749800	Enhancers	NHEK	skin
30	chr17:46749600-46749800	Enhancers	NHLF	lung
31	chr17:46749600-46750000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr17:46749600-46750000	Enhancers	Brain Substantia Nigra	brain
33	chr17:46749600-46750000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr17:46749600-46751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:46749600-46752800	Weak transcription	Rectal Mucosa Donor 31	rectum

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