Variant report

Variant	rs1132338
Chromosome Location	chr5:178139442-178139443
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178135141..178137270-chr5:178138560..178140664,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1071881	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1071882	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1071883	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1079487	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1132336	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11739893	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11740283	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11742156	0.84[AMR][1000 genomes]
rs11742176	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11742808	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11743893	0.81[AMR][1000 genomes]
rs11747097	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11748495	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11748497	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11749438	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17184281	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17184302	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17184344	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17652247	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34703961	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34981407	0.81[AMR][1000 genomes]
rs4266420	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4470778	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55774261	0.80[AMR][1000 genomes]
rs55818572	0.83[AMR][1000 genomes]
rs55974982	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56027952	0.83[AMR][1000 genomes]
rs56070635	0.83[AMR][1000 genomes]
rs56159071	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56206101	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56236920	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58549512	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59259518	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61247551	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62392825	0.81[AMR][1000 genomes]
rs62392831	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62392832	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62392833	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62392839	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62392842	0.81[AMR][1000 genomes]
rs6870021	0.81[AMR][1000 genomes]
rs6890741	0.81[AMR][1000 genomes]
rs6896799	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72812613	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7732764	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv883217	chr5:178099758-178193081	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1132338	ZNF354A	cis	Thyroid	GTEx
rs1132338	ZNF354A	cis	Whole Blood	GTEx
rs1132338	ZNF354A	cis	lung	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178130000-178150600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr5:178135400-178150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178135800-178147600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr5:178135800-178155600	ZNF genes & repeats	Liver	Liver
5	chr5:178136200-178155200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr5:178136600-178141000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
7	chr5:178136800-178150400	ZNF genes & repeats	Brain Substantia Nigra	brain
8	chr5:178136800-178150600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:178136800-178152800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr5:178137000-178149800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr5:178137000-178150600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:178137000-178150600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr5:178137200-178151000	ZNF genes & repeats	Fetal Brain Female	brain
14	chr5:178137400-178139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:178137400-178147800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:178137400-178150600	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr5:178138000-178139800	Strong transcription	Brain Germinal Matrix	brain
18	chr5:178138200-178140600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:178138400-178139800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:178138400-178141800	Strong transcription	Placenta	Placenta
21	chr5:178138400-178146000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
22	chr5:178138400-178149800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:178138400-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:178138600-178140000	Weak transcription	Fetal Thymus	thymus
25	chr5:178138600-178140800	ZNF genes & repeats	Fetal Heart	heart
26	chr5:178138600-178141000	ZNF genes & repeats	HSMM	muscle
27	chr5:178138600-178145400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr5:178138600-178146600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr5:178138600-178147600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr5:178138600-178147600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:178138600-178147600	ZNF genes & repeats	Osteobl	bone
32	chr5:178138600-178148000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr5:178138600-178148800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr5:178138600-178149400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr5:178138600-178149600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr5:178138600-178150400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:178138600-178150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:178138800-178139600	ZNF genes & repeats	Fetal Brain Male	brain
41	chr5:178138800-178139800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:178138800-178143800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr5:178138800-178144000	ZNF genes & repeats	Fetal Kidney	kidney
44	chr5:178138800-178146600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:178138800-178150200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:178138800-178150400	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr5:178138800-178154400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr5:178138800-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:178139000-178139800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:178139000-178140800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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