Variant report

Variant	rs804903
Chromosome Location	chr16:81105984-81105985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81105753..81107546-chr7:102111679..102113893,2	MCF-7	breast:
2	chr16:81104152..81107798-chr16:81108570..81111013,4	MCF-7	breast:
3	chr16:81101883..81103622-chr16:81105773..81108523,2	K562	blood:

Variant related genes	Relation type
ENSG00000264471	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11865207	0.88[ASN][1000 genomes]
rs12927239	0.87[ASN][1000 genomes]
rs12927828	0.88[ASN][1000 genomes]
rs13185	0.85[ASN][1000 genomes]
rs2257378	0.84[ASN][1000 genomes]
rs2549895	0.85[ASN][1000 genomes]
rs2549896	0.88[ASN][1000 genomes]
rs2602402	0.85[ASN][1000 genomes]
rs2602404	0.88[ASN][1000 genomes]
rs2602407	0.88[ASN][1000 genomes]
rs2970076	0.88[ASN][1000 genomes]
rs4889225	0.88[ASN][1000 genomes]
rs4889229	0.89[ASN][1000 genomes]
rs4889230	0.89[ASN][1000 genomes]
rs7203546	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7206814	0.92[ASN][1000 genomes]
rs804885	0.88[ASN][1000 genomes]
rs804889	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs804896	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs804902	0.93[ASN][1000 genomes]
rs804904	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs804905	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052415	0.83[ASN][1000 genomes]
rs935942	0.85[ASN][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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
6	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
8	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs804903	GCSH///LOC654085///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs804903	GCSH///LOC730107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81079400-81109800	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:81080400-81110200	Weak transcription	Ovary	ovary
3	chr16:81092000-81106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81093000-81109800	Weak transcription	Brain Anterior Caudate	brain
5	chr16:81095000-81109400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:81095600-81109800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:81095800-81110200	Weak transcription	Fetal Stomach	stomach
8	chr16:81098200-81107200	Weak transcription	Placenta	Placenta
9	chr16:81101000-81110000	Weak transcription	Fetal Brain Male	brain
10	chr16:81102000-81109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:81103600-81108000	Weak transcription	Thymus	Thymus
12	chr16:81104800-81106600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:81104800-81107000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:81105000-81106000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:81105400-81106000	Enhancers	K562	blood
16	chr16:81105600-81106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:81105600-81109400	Weak transcription	Fetal Heart	heart
18	chr16:81105800-81109400	Weak transcription	Hela-S3	cervix
19	chr16:81105800-81109600	Weak transcription	HepG2	liver
20	chr16:81105800-81109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:81105800-81109800	Weak transcription	HMEC	breast
22	chr16:81105800-81109800	Weak transcription	NHEK	skin
23	chr16:81105800-81110000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:81105800-81110000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:81105800-81110000	Weak transcription	Placenta Amnion	Placenta Amnion

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