Variant report

Variant	rs8044684
Chromosome Location	chr16:46780195-46780196
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	chr16:46721630..46725552-chr16:46779076..46784170,6	K562	blood:
2	chr16:46721631..46724836-chr16:46779909..46784170,7	K562	blood:

Variant related genes	Relation type
ENSG00000069329	Chromatin interaction
ENSG00000091651	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];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[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];0.88[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]
rs17792604	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]
rs183672	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36472	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36476	0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	1.00[CEU][hapmap];0.88[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	0.86[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];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4967393	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.90[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	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698416	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs698418	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.82[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	0.81[AFR][1000 genomes];0.90[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];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.92[CEU][hapmap];0.92[AFR][1000 genomes];0.98[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
rs8044684	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46777400-46780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:46777600-46780400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr16:46777600-46780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:46777600-46780600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:46777600-46780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:46777600-46780600	Weak transcription	Placenta	Placenta
7	chr16:46777600-46780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:46777600-46780800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:46777600-46780800	Weak transcription	HSMMtube	muscle
10	chr16:46777600-46781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:46777600-46781200	Weak transcription	Psoas Muscle	Psoas
12	chr16:46777600-46782000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:46777600-46782000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:46777600-46798200	Weak transcription	Spleen	Spleen
15	chr16:46777800-46780400	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:46777800-46780800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:46777800-46780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:46777800-46781800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:46777800-46782000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:46777800-46782200	Weak transcription	GM12878-XiMat	blood
21	chr16:46778200-46782200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:46778400-46782800	Active TSS	Right Ventricle	heart
23	chr16:46778600-46782800	Active TSS	Left Ventricle	heart
24	chr16:46779000-46780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:46779000-46782200	Active TSS	Right Atrium	heart
26	chr16:46779000-46782600	Weak transcription	Primary B cells from cord blood	blood
27	chr16:46779200-46781600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:46779200-46781800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:46779200-46781800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:46779200-46782600	Active TSS	Fetal Heart	heart
31	chr16:46779200-46784000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:46779400-46782400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:46779600-46780200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:46779600-46780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr16:46779600-46781400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr16:46779600-46782400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr16:46779600-46783400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:46779800-46780800	Weak transcription	K562	blood
39	chr16:46779800-46781000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr16:46780000-46780800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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