Variant report

Variant	rs13178514
Chromosome Location	chr5:58424038-58424039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58416156..58418689-chr5:58423401..58425784,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11955845	0.81[EUR][1000 genomes]
rs13160617	0.82[EUR][1000 genomes]
rs13164981	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13180599	0.87[EUR][1000 genomes]
rs13185063	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13185828	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13185996	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13186000	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13186012	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13186015	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16877155	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2059191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2409627	0.85[EUR][1000 genomes]
rs34235034	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56273963	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:58422600-58424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58422600-58424200	Active TSS	Brain Substantia Nigra	brain
4	chr5:58422800-58424200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:58422800-58424400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:58423200-58424200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:58423200-58424200	Active TSS	Brain Anterior Caudate	brain
8	chr5:58423200-58424200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:58423200-58424200	Active TSS	Right Atrium	heart
10	chr5:58423200-58424200	Active TSS	Right Ventricle	heart
11	chr5:58423200-58424200	Enhancers	HUVEC	blood vessel
12	chr5:58423200-58426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:58423400-58424200	Active TSS	Primary B cells from cord blood	blood
14	chr5:58423600-58424200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:58423600-58424200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr5:58423600-58424200	Flanking Active TSS	Thymus	Thymus
17	chr5:58423600-58424400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:58423600-58424400	Enhancers	Liver	Liver
19	chr5:58423600-58424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:58423600-58425200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:58423800-58424200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:58423800-58424200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:58423800-58424200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:58423800-58424200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:58423800-58424200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:58423800-58424200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr5:58423800-58424200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr5:58423800-58424200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:58423800-58424200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr5:58423800-58424200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:58423800-58424200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:58423800-58424200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr5:58423800-58424200	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr5:58423800-58424200	Flanking Active TSS	Left Ventricle	heart
35	chr5:58423800-58424200	Flanking Active TSS	Psoas Muscle	Psoas
36	chr5:58423800-58424200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:58423800-58424200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:58423800-58424200	Flanking Active TSS	HSMM	muscle
39	chr5:58423800-58424200	Flanking Active TSS	Osteobl	bone
40	chr5:58423800-58424400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:58423800-58424400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:58423800-58424400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:58423800-58424400	Flanking Active TSS	Fetal Heart	heart
44	chr5:58423800-58424600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:58423800-58425000	Flanking Active TSS	A549	lung
46	chr5:58423800-58429400	Weak transcription	Aorta	Aorta
47	chr5:58424000-58424200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:58424000-58424200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:58424000-58424200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:58424000-58424200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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