Variant report

Variant	rs56379171
Chromosome Location	chr5:16545925-16545926
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16482049..16483952-chr5:16545895..16548159,2	MCF-7	breast:
2	chr5:16465611..16467390-chr5:16543761..16546084,2	MCF-7	breast:
3	chr5:16463630..16466881-chr5:16544037..16546726,3	MCF-7	breast:
4	chr5:16544591..16547039-chr5:16547595..16549857,2	K562	blood:

Variant related genes	Relation type
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10035580	0.93[ASN][1000 genomes]
rs10041159	0.93[ASN][1000 genomes]
rs10073468	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187057	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12187879	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551050	1.00[ASN][1000 genomes]
rs17706853	0.83[ASN][1000 genomes]
rs2028843	0.81[ASN][1000 genomes]
rs2162770	0.94[ASN][1000 genomes]
rs2560828	0.92[ASN][1000 genomes]
rs6860945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862083	0.94[ASN][1000 genomes]
rs6882868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886993	0.94[ASN][1000 genomes]
rs7705650	0.98[ASN][1000 genomes]
rs7730689	0.99[ASN][1000 genomes]
rs9312921	0.98[ASN][1000 genomes]
rs9312922	0.98[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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56379171	FAM134B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:16535600-16546000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:16536800-16552800	Weak transcription	Thymus	Thymus
4	chr5:16538600-16546400	Weak transcription	Right Ventricle	heart
5	chr5:16539200-16554400	Weak transcription	Small Intestine	intestine
6	chr5:16539800-16546400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:16539800-16548400	Weak transcription	Aorta	Aorta
8	chr5:16539800-16548400	Weak transcription	Gastric	stomach
9	chr5:16541200-16547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:16541200-16547000	Weak transcription	HSMM	muscle
11	chr5:16541200-16548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:16541200-16549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:16541200-16552000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:16541400-16549800	Weak transcription	HMEC	breast
15	chr5:16542200-16547800	Enhancers	Brain Substantia Nigra	brain
16	chr5:16542600-16567200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:16543200-16547200	Weak transcription	Fetal Intestine Large	intestine
18	chr5:16543200-16548400	Weak transcription	Primary T cells from cord blood	blood
19	chr5:16543200-16548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:16543400-16546800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:16543400-16547000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:16543400-16547200	Weak transcription	NH-A	brain
24	chr5:16543400-16552800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:16544000-16562400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:16544200-16548800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:16544200-16549800	Enhancers	Brain Hippocampus Middle	brain
29	chr5:16544200-16550000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:16544200-16565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:16544400-16549800	Enhancers	Fetal Heart	heart
32	chr5:16544400-16550200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:16544600-16549800	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:16544600-16550000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:16544800-16546200	Enhancers	Brain Anterior Caudate	brain
36	chr5:16544800-16546200	Enhancers	NHEK	skin
37	chr5:16544800-16546400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:16545000-16546000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr5:16545000-16546400	Enhancers	Brain Angular Gyrus	brain
40	chr5:16545000-16547000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:16545000-16574600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:16545200-16546200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:16545200-16549800	Enhancers	Fetal Muscle Leg	muscle
44	chr5:16545400-16546200	Enhancers	Right Atrium	heart
45	chr5:16545400-16546600	Enhancers	Left Ventricle	heart
46	chr5:16545400-16547000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:16545400-16547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:16545400-16547000	Weak transcription	HSMMtube	muscle
49	chr5:16545600-16546000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:16545600-16546200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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