Variant report

Variant	rs1816063
Chromosome Location	chr5:112848602-112848603
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	WRNIP1	chr5:112848475-112848896	GM12878	blood:	n/a	n/a
2	RCOR1	chr5:112848211-112849835	IMR90	lung:	n/a	n/a
3	MXI1	chr5:112848600-112850607	SK-N-SH	brain:	n/a	n/a
4	STAT3	chr5:112848129-112848704	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr5:112848414-112850388	A549	lung:	n/a	chr5:112850360-112850368
6	FOXA1	chr5:112848589-112848931	HepG2	liver:	n/a	n/a
7	CHD1	chr5:112848588-112850690	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112538594..112540259-chr5:112848065..112850694,2	MCF-7	breast:
2	chr5:112714356..112715276-chr5:112847595..112848868,4	MCF-7	breast:

Variant related genes	Relation type
YTHDC2	TF binding region
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035297	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10042141	0.91[EUR][1000 genomes]
rs10070825	0.88[ASN][1000 genomes]
rs10155616	0.91[EUR][1000 genomes]
rs10477494	0.88[ASN][1000 genomes]
rs11950116	0.91[EUR][1000 genomes]
rs11950577	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12332461	0.87[ASN][1000 genomes]
rs12652864	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13356509	0.88[ASN][1000 genomes]
rs1582487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135586	1.00[AMR][1000 genomes]
rs17135601	1.00[AMR][1000 genomes]
rs17135607	1.00[AMR][1000 genomes]
rs17135615	1.00[AMR][1000 genomes]
rs17135647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2222145	1.00[AMR][1000 genomes]
rs2900070	1.00[AMR][1000 genomes]
rs36009332	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36015377	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3843500	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs41459745	1.00[AMR][1000 genomes]
rs4345310	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56090613	0.82[EUR][1000 genomes]
rs6866028	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879177	0.88[ASN][1000 genomes]
rs7731451	0.88[ASN][1000 genomes]
rs9654506	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112844800-112848800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:112845000-112848800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112847200-112849000	Enhancers	Gastric	stomach
4	chr5:112847800-112848800	Enhancers	HepG2	liver
5	chr5:112847800-112849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112847800-112849000	Enhancers	HMEC	breast
7	chr5:112848000-112848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:112848000-112848800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112848000-112848800	Enhancers	NHEK	skin
10	chr5:112848400-112849000	Enhancers	Fetal Thymus	thymus
11	chr5:112848600-112848800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:112848600-112848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:112848600-112848800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:112848600-112848800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:112848600-112848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:112848600-112848800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112848600-112848800	Flanking Active TSS	Aorta	Aorta
18	chr5:112848600-112848800	Enhancers	Brain Anterior Caudate	brain
19	chr5:112848600-112848800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:112848600-112848800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:112848600-112848800	Enhancers	NHDF-Ad	bronchial
22	chr5:112848600-112849000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:112848600-112849000	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:112848600-112849000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:112848600-112849000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:112848600-112849000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:112848600-112849000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:112848600-112849000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:112848600-112849000	Enhancers	Stomach Mucosa	stomach
30	chr5:112848600-112849200	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:112848600-112849400	Flanking Active TSS	Dnd41	blood
32	chr5:112848600-112850000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:112848600-112850200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:112848600-112850200	Active TSS	Colon Smooth Muscle	Colon
35	chr5:112848600-112850600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:112848600-112850600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr5:112848600-112850800	Active TSS	K562	blood

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