Variant report

Variant	rs378427
Chromosome Location	chr5:36634667-36634668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36629975..36633425-chr5:36634181..36637706,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10070340	0.82[JPT][hapmap]
rs10941307	0.96[ASN][1000 genomes]
rs12188287	0.81[YRI][hapmap]
rs1645651	0.96[CEU][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1645657	0.97[ASN][1000 genomes]
rs1651843	0.90[ASN][1000 genomes]
rs448281	0.82[EUR][1000 genomes]
rs4869680	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.99[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
3	chr5:36620800-36638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:36624600-36637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:36628600-36641000	Weak transcription	Fetal Brain Male	brain
6	chr5:36629400-36637800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:36630400-36638200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:36630400-36638400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:36630600-36635200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:36630600-36641400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:36630800-36638200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:36630800-36646200	Weak transcription	NHDF-Ad	bronchial
13	chr5:36631000-36635800	Weak transcription	Placenta	Placenta
14	chr5:36631000-36637600	Strong transcription	HSMM	muscle
15	chr5:36631000-36638000	Weak transcription	Right Ventricle	heart
16	chr5:36631000-36638200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:36631000-36638400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:36631000-36654400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:36631200-36638000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:36631200-36638200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:36631200-36639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:36631400-36634800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:36631400-36635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:36631400-36638200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:36631400-36641000	Weak transcription	Osteobl	bone
26	chr5:36631600-36636800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:36631800-36635800	Weak transcription	NHEK	skin
28	chr5:36631800-36641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:36632000-36635800	Weak transcription	HMEC	breast
30	chr5:36632000-36638200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:36632200-36635400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:36632200-36636800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:36632200-36654800	Weak transcription	Fetal Brain Female	brain
34	chr5:36632600-36635600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:36632600-36636800	Weak transcription	Brain Angular Gyrus	brain
36	chr5:36632600-36639200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:36632600-36641200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:36632600-36651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:36632600-36654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:36632800-36635800	Weak transcription	Fetal Heart	heart
41	chr5:36633200-36636200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:36633400-36640200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:36633600-36635000	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:36633600-36635400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:36633600-36635400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:36633600-36635400	Weak transcription	Left Ventricle	heart
47	chr5:36633600-36638400	Weak transcription	Brain Substantia Nigra	brain
48	chr5:36633800-36635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:36633800-36635200	Weak transcription	Brain Anterior Caudate	brain
50	chr5:36633800-36639600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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