Variant report

Variant	rs684513
Chromosome Location	chr15:78858400-78858401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78799175..78801434-chr15:78856957..78860049,3	K562	blood:
2	chr15:78829726..78832334-chr15:78857099..78858875,2	K562	blood:
3	chr15:78829726..78834442-chr15:78855710..78860360,8	K562	blood:
4	chr15:78856926..78859657-chr19:33792449..33795095,2	MCF-7	breast:
5	chr15:78832604..78836535-chr15:78856473..78859290,6	MCF-7	breast:
6	chr15:78773415..78776394-chr15:78857535..78859504,2	MCF-7	breast:
7	chr15:75743021..75745154-chr15:78857416..78860250,2	MCF-7	breast:
8	chr15:78831297..78836398-chr15:78856605..78860226,12	MCF-7	breast:
9	chr15:78856606..78859221-chr15:78887185..78889989,2	MCF-7	breast:
10	chr15:78832891..78834488-chr15:78856612..78858995,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178863	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000245848	Chromatin interaction
ENSG00000268838	Chromatin interaction
ENSG00000080644	Chromatin interaction
ENSG00000188266	Chromatin interaction
ENSG00000041357	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000230259	Chromatin interaction
ENSG00000267296	Chromatin interaction
ENSG00000259474	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12438181	0.81[EUR][1000 genomes]
rs12438659	0.82[EUR][1000 genomes]
rs12439240	0.85[EUR][1000 genomes]
rs12441354	0.82[EUR][1000 genomes]
rs12441426	0.82[EUR][1000 genomes]
rs1700006	0.80[EUR][1000 genomes]
rs1711731	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2036534	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28395178	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28437878	0.82[EUR][1000 genomes]
rs28498264	0.86[EUR][1000 genomes]
rs2869045	0.83[CEU][hapmap]
rs34138960	0.86[EUR][1000 genomes]
rs34664138	0.86[EUR][1000 genomes]
rs35212593	0.86[EUR][1000 genomes]
rs3813570	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4461039	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4887053	0.83[CEU][hapmap]
rs503464	0.84[EUR][1000 genomes]
rs569207	0.82[CEU][hapmap]
rs59133824	0.86[EUR][1000 genomes]
rs59683676	0.86[EUR][1000 genomes]
rs61204066	0.83[EUR][1000 genomes]
rs637137	0.83[CEU][hapmap]
rs667282	0.82[CEU][hapmap]
rs7163730	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7164594	0.95[CEU][hapmap]
rs7169584	0.82[EUR][1000 genomes]
rs7173514	0.84[EUR][1000 genomes]
rs7181245	0.82[EUR][1000 genomes]
rs7181447	0.82[EUR][1000 genomes]
rs905739	0.88[EUR][1000 genomes]
rs9788682	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs684513	RP11-650L12.2	cis	Muscle Skeletal	GTEx
rs684513	IREB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78856800-78859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:78857200-78859400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr15:78857200-78859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:78857400-78858400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:78857400-78858400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr15:78857400-78858400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:78857400-78858400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr15:78857400-78858400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:78857400-78858400	Active TSS	Brain Substantia Nigra	brain
10	chr15:78857400-78858400	Active TSS	Right Ventricle	heart
11	chr15:78857400-78858400	Active TSS	Stomach Smooth Muscle	stomach
12	chr15:78857400-78858400	Active TSS	HSMM	muscle
13	chr15:78857400-78858400	Active TSS	NH-A	brain
14	chr15:78857400-78858600	Active TSS	Colon Smooth Muscle	Colon
15	chr15:78857400-78858600	Active TSS	Ovary	ovary
16	chr15:78857400-78858800	Active TSS	Aorta	Aorta
17	chr15:78857400-78858800	Flanking Active TSS	Thymus	Thymus
18	chr15:78857400-78859000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:78857400-78859000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:78857400-78859000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:78857400-78859000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr15:78857400-78859200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:78857400-78859200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:78857400-78859200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:78857400-78859200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:78857400-78859200	Active TSS	Fetal Kidney	kidney
27	chr15:78857400-78859400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr15:78857600-78858400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:78857600-78858400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:78857600-78858400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:78857600-78858400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr15:78857600-78858400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:78857600-78858400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr15:78857600-78858400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr15:78857600-78858400	Active TSS	Brain Angular Gyrus	brain
36	chr15:78857600-78858400	Active TSS	Duodenum Mucosa	Duodenum
37	chr15:78857600-78858400	Active TSS	Fetal Brain Female	brain
38	chr15:78857600-78858400	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr15:78857600-78858400	Active TSS	Pancreas	Pancrea
40	chr15:78857600-78858400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr15:78857600-78858400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:78857600-78858400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr15:78857600-78858400	Active TSS	Stomach Mucosa	stomach
44	chr15:78857600-78858400	Active TSS	K562	blood
45	chr15:78857600-78858400	Active TSS	NHDF-Ad	bronchial
46	chr15:78857600-78858400	Active TSS	NHLF	lung
47	chr15:78857600-78858600	Active TSS	Right Atrium	heart
48	chr15:78857600-78858600	Active TSS	Small Intestine	intestine
49	chr15:78857600-78858800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:78857600-78858800	Active TSS	Esophagus	oesophagus

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