Variant report

Variant	rs17792604
Chromosome Location	chr16:46777063-46777064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46721548..46724440-chr16:46775147..46778167,7	K562	blood:
2	chr16:46763359..46767731-chr16:46770560..46777195,6	K562	blood:
3	chr16:46776007..46778595-chr16:46797894..46800588,2	K562	blood:
4	chr16:46776667..46778903-chr16:46781931..46783733,2	K562	blood:

Variant related genes	Relation type
ENSG00000069329	Chromatin interaction
ENSG00000091651	Chromatin interaction
ENSG00000140795	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10468399	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs166161	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs17189741	0.93[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36472	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36476	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	0.86[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36483	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40163	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420865	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42461	0.87[EUR][1000 genomes]
rs4401068	0.86[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966606	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4967393	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698416	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs698418	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186662	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs7190713	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs7198951	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205668	1.00[ASN][1000 genomes]
rs72816835	1.00[ASN][1000 genomes]
rs72816877	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.92[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs808432	0.81[CEU][hapmap]
rs808434	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs808780	0.93[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808783	0.93[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17792604	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46772000-46777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:46774000-46779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:46775000-46777200	Enhancers	GM12878-XiMat	blood
4	chr16:46775200-46777200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:46776000-46777200	Weak transcription	Psoas Muscle	Psoas
6	chr16:46776400-46777200	Active TSS	Left Ventricle	heart
7	chr16:46776400-46777600	Enhancers	Fetal Muscle Trunk	muscle
8	chr16:46776400-46777800	Flanking Active TSS	Fetal Heart	heart
9	chr16:46776400-46777800	Flanking Active TSS	K562	blood
10	chr16:46776400-46779400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:46776600-46777200	Enhancers	Primary B cells from cord blood	blood
12	chr16:46776600-46777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:46776600-46777400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:46776600-46777600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:46776600-46777600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:46776600-46777600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:46776600-46777600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:46776600-46777600	Enhancers	Spleen	Spleen
19	chr16:46776600-46777600	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr16:46776600-46777800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:46776600-46777800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr16:46776600-46777800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:46776600-46777800	Enhancers	Fetal Muscle Leg	muscle
24	chr16:46776800-46777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:46776800-46777200	Enhancers	Brain Hippocampus Middle	brain
26	chr16:46776800-46777200	Enhancers	Right Atrium	heart
27	chr16:46776800-46777200	Flanking Active TSS	Right Ventricle	heart
28	chr16:46776800-46777400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:46776800-46777400	Enhancers	Primary hematopoietic stem cells	blood
30	chr16:46776800-46777400	Enhancers	Pancreas	Pancrea
31	chr16:46776800-46777600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr16:46776800-46777800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr16:46776800-46777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:46776800-46777800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr16:46776800-46777800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr16:46777000-46777200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:46777000-46777200	Flanking Active TSS	Placenta	Placenta
38	chr16:46777000-46777600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr16:46777000-46777600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:46777000-46777600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr16:46777000-46777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:46777000-46777800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr16:46777000-46777800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:46777000-46777800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr16:46777000-46777800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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