Variant report

Variant	rs62308282
Chromosome Location	chr4:57951826-57951827
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	chr4:57947462..57949584-chr4:57951331..57953950,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10016108	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10016200	0.87[EUR][1000 genomes]
rs1618761	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17183291	0.87[ASN][1000 genomes]
rs1718848	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787430	0.87[ASN][1000 genomes]
rs35174788	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865175	1.00[ASN][1000 genomes]
rs4865176	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865177	1.00[ASN][1000 genomes]
rs62308281	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554413	0.87[ASN][1000 genomes]
rs67355508	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242639	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62308282	KIAA1345	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
3	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
4	chr4:57945200-57958000	Weak transcription	Gastric	stomach
5	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
6	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
7	chr4:57948000-57955600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57948000-57955800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:57948200-57952000	Weak transcription	Right Ventricle	heart
10	chr4:57948400-57955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:57948400-57956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
13	chr4:57948600-57952000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:57948600-57952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:57948600-57953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:57948600-57953200	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:57948600-57960400	Weak transcription	HSMM	muscle
18	chr4:57949800-57957200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:57950000-57952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:57950000-57952200	Weak transcription	Left Ventricle	heart
21	chr4:57950000-57952600	Weak transcription	HSMMtube	muscle
22	chr4:57950000-57952600	Weak transcription	NHEK	skin
23	chr4:57950000-57954200	Weak transcription	Fetal Kidney	kidney
24	chr4:57950000-57955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:57950000-57955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:57950000-57957400	Weak transcription	Ovary	ovary
27	chr4:57950000-57958200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:57950000-57960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:57950000-57960400	Weak transcription	Right Atrium	heart
30	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:57950200-57953600	Weak transcription	Liver	Liver
32	chr4:57950200-57955800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:57950600-57954800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57950800-57952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:57950800-57953000	Weak transcription	NH-A	brain
36	chr4:57950800-57955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:57950800-57957600	Weak transcription	A549	lung
38	chr4:57950800-57960400	Weak transcription	NHLF	lung
39	chr4:57951000-57955400	Weak transcription	HUVEC	blood vessel
40	chr4:57951000-57955600	Strong transcription	Osteobl	bone
41	chr4:57951200-57956800	Weak transcription	HMEC	breast
42	chr4:57951400-57952000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:57951400-57952600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:57951400-57955800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:57951600-57952000	Flanking Active TSS	GM12878-XiMat	blood
46	chr4:57951600-57952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:57951600-57952400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:57951600-57953600	Enhancers	Fetal Heart	heart

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