Variant report

Variant	rs2864754
Chromosome Location	chr16:70680090-70680091
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	chr16:70677228..70680098-chr16:70680476..70682009,2	K562	blood:
2	chr16:70556330..70559172-chr16:70679219..70681139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157368	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11865702	0.99[EUR][1000 genomes]
rs12708905	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12917749	0.88[EUR][1000 genomes]
rs12924106	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12928124	0.82[EUR][1000 genomes]
rs13330163	0.89[EUR][1000 genomes]
rs1993448	0.82[EUR][1000 genomes]
rs2168608	0.87[ASN][1000 genomes]
rs34538878	0.92[EUR][1000 genomes]
rs3813904	0.99[EUR][1000 genomes]
rs4985412	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4985548	0.89[EUR][1000 genomes]
rs4985555	0.84[EUR][1000 genomes]
rs6499328	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6499329	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6499330	0.96[EUR][1000 genomes]
rs7193968	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72792838	1.00[EUR][1000 genomes]
rs8046424	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053536	0.92[EUR][1000 genomes]
rs8061569	1.00[EUR][1000 genomes]
rs8061854	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS 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 target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2864754	CLEC18A	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70673600-70680200	Weak transcription	Brain Anterior Caudate	brain
3	chr16:70673600-70680200	Weak transcription	HSMMtube	muscle
4	chr16:70673600-70683200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:70673600-70684000	Weak transcription	Esophagus	oesophagus
6	chr16:70673800-70680200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:70673800-70680200	Weak transcription	Fetal Stomach	stomach
8	chr16:70673800-70682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:70674000-70680200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:70674000-70680200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:70674200-70680200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:70674200-70680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:70678000-70681200	Weak transcription	Fetal Intestine Large	intestine
14	chr16:70679000-70680200	Enhancers	Spleen	Spleen
15	chr16:70679000-70680600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:70679600-70680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:70679600-70681000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:70679600-70681400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:70679800-70681200	Enhancers	Placenta	Placenta
20	chr16:70679800-70682400	Enhancers	Fetal Brain Male	brain
21	chr16:70680000-70680200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr16:70680000-70680200	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:70680000-70680200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:70680000-70680200	Enhancers	Fetal Brain Female	brain
25	chr16:70680000-70680200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:70680000-70680400	Enhancers	Fetal Muscle Trunk	muscle
27	chr16:70680000-70681000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:70680000-70681000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr16:70680000-70682000	Enhancers	Fetal Muscle Leg	muscle
30	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine

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