Variant report

Variant	rs60743050
Chromosome Location	chr17:17801745-17801746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17799007..17802197-chr17:17803900..17807230,4	K562	blood:
2	chr17:17742976..17745476-chr17:17800458..17803422,2	K562	blood:
3	chr17:17799113..17802641-chr17:17808261..17812088,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11652819	1.00[EUR][1000 genomes]
rs11654240	0.90[EUR][1000 genomes]
rs11656629	1.00[EUR][1000 genomes]
rs11656725	1.00[EUR][1000 genomes]
rs11658804	0.96[EUR][1000 genomes]
rs33997182	1.00[EUR][1000 genomes]
rs34434158	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
13	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
16	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60743050	ATPAF2	cis	Thyroid	GTEx
rs60743050	ATPAF2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17776400-17803200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:17781000-17802600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:17782200-17803800	Weak transcription	Stomach Mucosa	stomach
8	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
9	chr17:17783000-17802200	Weak transcription	Dnd41	blood
10	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:17789800-17802400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr17:17790200-17803800	Strong transcription	Fetal Intestine Small	intestine
13	chr17:17790400-17802200	Strong transcription	NHEK	skin
14	chr17:17790600-17802800	Weak transcription	Right Atrium	heart
15	chr17:17791000-17803000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:17792200-17801800	Weak transcription	NHDF-Ad	bronchial
17	chr17:17792600-17802000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17792600-17802400	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:17792600-17802800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:17792600-17803600	Weak transcription	HUVEC	blood vessel
21	chr17:17792600-17803800	Strong transcription	Fetal Stomach	stomach
22	chr17:17792800-17802600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr17:17793000-17803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:17793800-17802600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:17793800-17802600	Strong transcription	Fetal Brain Female	brain
27	chr17:17794200-17802800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr17:17794600-17803200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17794600-17803200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:17794800-17802200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:17794800-17802200	Strong transcription	Fetal Intestine Large	intestine
32	chr17:17794800-17802600	Strong transcription	Placenta	Placenta
33	chr17:17794800-17803200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:17795000-17802200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr17:17795000-17802800	Strong transcription	Brain Hippocampus Middle	brain
36	chr17:17795000-17806400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr17:17795400-17802400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:17795600-17804600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr17:17795800-17802000	Strong transcription	Spleen	Spleen
40	chr17:17795800-17803000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:17796000-17802800	Strong transcription	Fetal Lung	lung
42	chr17:17796000-17802800	Strong transcription	Osteobl	bone
43	chr17:17796000-17803200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:17796200-17802600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr17:17796200-17802800	Strong transcription	HSMM	muscle
46	chr17:17796200-17803000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:17796200-17803000	Strong transcription	Colonic Mucosa	Colon
48	chr17:17796400-17802600	Strong transcription	Primary B cells from cord blood	blood
49	chr17:17796600-17802600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr17:17796600-17802800	Strong transcription	Primary B cells from peripheral blood	blood

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