Variant report

Variant	rs1503926
Chromosome Location	chr5:119799480-119799481
allele	A/C
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	E2F6	chr5:119799457-119800243	H1-hESC	embryonic stem cell:	n/a	chr5:119800088-119800098 chr5:119799926-119799938 chr5:119799940-119799949 chr5:119799756-119799765 chr5:119799924-119799934 chr5:119799886-119799895
2	MXI1	chr5:119798748-119802822	SK-N-SH	brain:	n/a	n/a
3	ZNF384	chr5:119799123-119799925	K562	blood:	n/a	n/a
4	MXI1	chr5:119799479-119801250	IMR90	lung:	n/a	n/a
5	CTCF	chr5:119799460-119799610	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
PRR16	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17146596	0.82[EUR][1000 genomes]
rs17146610	0.82[EUR][1000 genomes]
rs17146612	0.82[EUR][1000 genomes]
rs17146625	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17146632	0.80[AFR][1000 genomes]
rs17146635	0.80[AFR][1000 genomes]
rs17146687	1.00[GIH][hapmap]
rs17146714	1.00[GIH][hapmap]
rs17489720	0.80[AFR][1000 genomes]
rs1835869	0.82[EUR][1000 genomes]
rs2691096	1.00[GIH][hapmap]
rs57401201	0.80[AFR][1000 genomes]
rs58831848	0.80[AFR][1000 genomes]
rs60019001	0.82[EUR][1000 genomes]
rs60249515	0.81[AFR][1000 genomes]
rs60263195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595230	0.82[EUR][1000 genomes]
rs6595231	0.82[EUR][1000 genomes]
rs6887795	0.82[EUR][1000 genomes]
rs6891906	0.82[EUR][1000 genomes]
rs72786229	0.80[AFR][1000 genomes]
rs73783446	0.87[AFR][1000 genomes]
rs73783447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73784933	0.82[EUR][1000 genomes]
rs73784938	0.82[EUR][1000 genomes]
rs73785926	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73785931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73785936	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73785937	0.82[EUR][1000 genomes]
rs73785938	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7712011	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7734475	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
2	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:119794000-119799600	Weak transcription	Esophagus	oesophagus
4	chr5:119794200-119799600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:119794200-119799600	Weak transcription	GM12878-XiMat	blood
6	chr5:119797800-119799600	Weak transcription	Placenta	Placenta
7	chr5:119798400-119799600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:119798600-119799600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:119798600-119800000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:119798600-119801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:119798800-119799600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:119798800-119799600	Enhancers	Fetal Heart	heart
13	chr5:119798800-119799600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr5:119798800-119799600	Enhancers	K562	blood
15	chr5:119798800-119801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:119798800-119801600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:119798800-119802800	Active TSS	Aorta	Aorta
18	chr5:119799000-119799600	Bivalent Enhancer	Fetal Lung	lung
19	chr5:119799000-119799600	Enhancers	HSMM	muscle
20	chr5:119799000-119800200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr5:119799000-119800400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr5:119799000-119802200	Active TSS	Right Atrium	heart
23	chr5:119799000-119803600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:119799200-119799600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:119799200-119799600	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:119799200-119799600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:119799200-119799600	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:119799200-119799600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr5:119799200-119799600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:119799200-119799600	Flanking Active TSS	Osteobl	bone
31	chr5:119799200-119799800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr5:119799200-119799800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:119799200-119801800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr5:119799200-119803000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:119799400-119799600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr5:119799400-119799600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:119799400-119799600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:119799400-119799600	Active TSS	Adipose Nuclei	Adipose
39	chr5:119799400-119799600	Active TSS	Brain Anterior Caudate	brain
40	chr5:119799400-119799600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:119799400-119799600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr5:119799400-119799600	Enhancers	Fetal Muscle Leg	muscle
43	chr5:119799400-119799600	Flanking Active TSS	Fetal Stomach	stomach
44	chr5:119799400-119799600	Enhancers	HMEC	breast
45	chr5:119799400-119799600	Enhancers	HUVEC	blood vessel
46	chr5:119799400-119799800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr5:119799400-119799800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:119799400-119799800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:119799400-119799800	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr5:119799400-119799800	Flanking Active TSS	Fetal Brain Male	brain

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