Variant report

Variant	rs1132336
Chromosome Location	chr5:178140090-178140091
allele	A/G
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: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10043035	0.86[EUR][1000 genomes]
rs1071881	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1071882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1071883	0.87[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1079487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1132338	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11739893	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11740283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11742156	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11742176	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742808	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11743893	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11747097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747232	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11747390	0.87[ASW][hapmap];0.83[CEU][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11748495	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11748497	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11749438	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11750409	0.87[EUR][1000 genomes]
rs13173130	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186580	0.86[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17184281	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17184302	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17184344	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17652247	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2335443	0.80[ASN][1000 genomes]
rs34601045	0.87[EUR][1000 genomes]
rs34651317	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34703961	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34981407	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35007468	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35850587	0.87[EUR][1000 genomes]
rs4266420	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4470778	0.87[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55774261	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55818572	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55974982	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56027952	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56070635	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56159071	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56206101	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56236920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58549512	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59259518	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61247551	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62392825	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62392826	0.86[ASN][1000 genomes]
rs62392827	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62392831	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62392832	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62392833	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62392839	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62392842	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62392854	0.83[EUR][1000 genomes]
rs66947564	0.84[EUR][1000 genomes]
rs6870021	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6873150	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6890741	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6896799	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71611460	0.81[EUR][1000 genomes]
rs72812613	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732764	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1132336	HK3	cis	cerebellum	SCAN
rs1132336	ZNF354A	cis	parietal	SCAN
rs1132336	ZNF354A	cis	Thyroid	GTEx
rs1132336	ZNF354A	cis	cerebellum	SCAN
rs1132336	FAM193B	cis	parietal	SCAN
rs1132336	ZNF354A	cis	lymphoblastoid	seeQTL

Chromatin state (count:100 , 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	chr5:178137400-178147800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:178137400-178150600	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr5:178138200-178140600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:178138400-178141800	Strong transcription	Placenta	Placenta
18	chr5:178138400-178146000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
19	chr5:178138400-178149800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:178138400-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:178138600-178140800	ZNF genes & repeats	Fetal Heart	heart
22	chr5:178138600-178141000	ZNF genes & repeats	HSMM	muscle
23	chr5:178138600-178145400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr5:178138600-178146600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr5:178138600-178147600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr5:178138600-178147600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr5:178138600-178147600	ZNF genes & repeats	Osteobl	bone
28	chr5:178138600-178148000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:178138600-178148800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr5:178138600-178149400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr5:178138600-178149600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr5:178138600-178150400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:178138600-178150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178138800-178143800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr5:178138800-178144000	ZNF genes & repeats	Fetal Kidney	kidney
38	chr5:178138800-178146600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:178138800-178150200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:178138800-178150400	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr5:178138800-178154400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr5:178138800-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:178139000-178140800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:178139000-178140800	ZNF genes & repeats	HSMMtube	muscle
45	chr5:178139000-178149600	ZNF genes & repeats	Fetal Lung	lung
46	chr5:178139000-178150600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr5:178139000-178150600	ZNF genes & repeats	NHEK	skin
48	chr5:178139000-178154000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr5:178139200-178140600	ZNF genes & repeats	Brain Angular Gyrus	brain
50	chr5:178139200-178140800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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