Variant report

Variant	rs1104916
Chromosome Location	chr3:133615546-133615547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr3:133613335-133615585	H1-neurons	neurons:	n/a	chr3:133614555-133614575 chr3:133614565-133614578 chr3:133613846-133613859 chr3:133614803-133614813 chr3:133614562-133614575 chr3:133613933-133613946 chr3:133613535-133613553 chr3:133615377-133615386 chr3:133614622-133614635
2	ZNF143	chr3:133615535-133615611	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:133614259-133615725	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133605158..133607453-chr3:133614736..133616247,2	K562	blood:
2	chr3:133613123..133615156-chr3:133615262..133617720,2	MCF-7	breast:

Variant related genes	Relation type
RAB6B	TF binding region
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1358020	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1525886	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1608904	0.84[ASN][1000 genomes]
rs1917780	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1917781	0.81[AMR][1000 genomes]
rs1949881	0.89[ASN][1000 genomes]
rs2692676	0.84[ASN][1000 genomes]
rs2692677	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2692680	0.80[AMR][1000 genomes]
rs2692685	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2715624	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715633	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2887814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs940898	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs940900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811568	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133612600-133615600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr3:133613200-133615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:133613200-133615600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:133614800-133615600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr3:133614800-133615600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:133614800-133615600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:133614800-133615600	Flanking Active TSS	Fetal Brain Male	brain
8	chr3:133614800-133615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:133615000-133615600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:133615000-133615600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr3:133615000-133615600	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr3:133615000-133615600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:133615000-133615600	Enhancers	Spleen	Spleen
14	chr3:133615200-133615600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr3:133615200-133615600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:133615200-133615600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:133615200-133615600	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr3:133615200-133615600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:133615200-133615600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr3:133615200-133615600	Flanking Active TSS	Fetal Brain Female	brain
21	chr3:133615200-133615600	Bivalent Enhancer	Fetal Lung	lung
22	chr3:133615200-133615600	Bivalent Enhancer	Placenta	Placenta
23	chr3:133615200-133615600	Enhancers	Left Ventricle	heart
24	chr3:133615200-133615600	Enhancers	Ovary	ovary
25	chr3:133615200-133615600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:133615200-133615800	Enhancers	K562	blood
27	chr3:133615200-133616000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:133615200-133616200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr3:133615400-133615600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:133615400-133615600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr3:133615400-133615600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr3:133615400-133615600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr3:133615400-133615600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:133615400-133615600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:133615400-133615600	Enhancers	Brain Substantia Nigra	brain
36	chr3:133615400-133615600	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr3:133615400-133615600	Bivalent Enhancer	Fetal Heart	heart
38	chr3:133615400-133615600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr3:133615400-133615600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr3:133615400-133615600	Flanking Active TSS	Pancreas	Pancrea
41	chr3:133615400-133615600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr3:133615400-133615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:133615400-133615800	Enhancers	Brain Hippocampus Middle	brain
44	chr3:133615400-133615800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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