Variant report

Variant	rs174651
Chromosome Location	chr22:29891002-29891003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29876192..29877953-chr22:29890493..29892542,2	K562	blood:

Variant related genes	Relation type
ENSG00000100285	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11704899	0.85[ASN][1000 genomes]
rs165625	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs165663	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs165668	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs165743	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs165803	0.86[EUR][1000 genomes]
rs165894	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs174650	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074951	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2188120	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55652051	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752930	0.94[EUR][1000 genomes]
rs5752933	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5752937	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763269	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763275	0.96[EUR][1000 genomes]
rs5763276	0.94[EUR][1000 genomes]
rs5763286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763287	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763292	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763293	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8137532	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8140848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs174651	THOC5	cis	Artery Aorta	GTEx
rs174651	THOC5	cis	Thyroid	GTEx
rs174651	THOC5	cis	Artery Tibial	GTEx
rs174651	THOC5	cis	Esophagus Muscularis	GTEx
rs174651	THOC5	cis	Nerve Tibial	GTEx
rs174651	THOC5	cis	lung	GTEx
rs174651	THOC5	cis	Adipose Subcutaneous	GTEx
rs174651	THOC5	cis	Muscle Skeletal	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29877400-29900600	Weak transcription	Right Atrium	heart
2	chr22:29878000-29900800	Weak transcription	Fetal Brain Female	brain
3	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
4	chr22:29878400-29895600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29878400-29899800	Weak transcription	Fetal Intestine Large	intestine
6	chr22:29878400-29899800	Weak transcription	NH-A	brain
7	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:29879000-29898600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:29879000-29899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29879200-29901200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:29879600-29898800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29879600-29899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29880400-29901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29882000-29899200	Weak transcription	Brain Angular Gyrus	brain
15	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:29883600-29899800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:29884800-29901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:29886000-29903400	Weak transcription	Gastric	stomach
23	chr22:29886200-29895400	Weak transcription	Fetal Stomach	stomach
24	chr22:29886200-29899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:29886800-29899800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29887400-29902000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:29887600-29902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:29888800-29901000	Weak transcription	Thymus	Thymus
30	chr22:29888800-29901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr22:29889000-29900800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:29889400-29899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:29889600-29899800	Weak transcription	NHLF	lung
34	chr22:29889800-29899800	Weak transcription	NHDF-Ad	bronchial
35	chr22:29890000-29891200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr22:29890000-29899800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:29890400-29891200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:29890400-29900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:29890600-29891200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:29890600-29891200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29890600-29891200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:29890600-29891200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:29890600-29891200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:29890600-29891200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:29890600-29891200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29890600-29891200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr22:29890600-29891200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr22:29890600-29891400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:29890600-29891400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29890600-29891400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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