Variant report

Variant	rs10063245
Chromosome Location	chr5:126897869-126897870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126893465..126895986-chr5:126896530..126898445,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044579	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10055438	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064653	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17164825	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756723	1.00[JPT][hapmap]
rs6892265	0.83[ASN][1000 genomes]
rs7731486	0.83[ASN][1000 genomes]
rs7732306	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733544	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9784651	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126870600-126898000	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
3	chr5:126876000-126898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:126876400-126898200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:126888200-126901400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:126888200-126901600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:126888400-126901800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:126889600-126903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:126890000-126898000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:126890000-126898000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:126890000-126898200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:126890000-126898400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:126890000-126899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:126890000-126899800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:126890000-126899800	Weak transcription	HUVEC	blood vessel
16	chr5:126890000-126899800	Weak transcription	NHEK	skin
17	chr5:126890000-126900000	Weak transcription	Aorta	Aorta
18	chr5:126890000-126902200	Weak transcription	Fetal Thymus	thymus
19	chr5:126890000-126903400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:126890200-126898200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:126890200-126898200	Weak transcription	Fetal Stomach	stomach
22	chr5:126890200-126901600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:126890400-126901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:126890400-126907000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:126890600-126899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:126891200-126898200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126891200-126899400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:126891200-126902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:126891400-126900600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:126891600-126898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:126891600-126902800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:126891800-126898400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:126892200-126898000	Weak transcription	Stomach Mucosa	stomach
34	chr5:126896000-126898200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:126896400-126898200	Enhancers	HSMMtube	muscle
36	chr5:126896600-126898800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:126896600-126898800	Enhancers	NHLF	lung
38	chr5:126897000-126898200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:126897000-126898600	Enhancers	NHDF-Ad	bronchial
40	chr5:126897000-126899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:126897000-126900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:126897200-126899200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:126897200-126900000	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:126897600-126898400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:126897600-126898600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr5:126897800-126898000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:126897800-126898200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:126897800-126898800	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:126897800-126899800	Enhancers	Fetal Lung	lung
50	chr5:126897800-126901200	Enhancers	Skeletal Muscle Female	skeletal muscle

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