Variant report

Variant	rs8045484
Chromosome Location	chr16:30799356-30799357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10782000	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs11648654	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12596375	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[AMR][1000 genomes]
rs12596394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12598056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12931844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12933849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530203	1.00[ASW][hapmap];0.83[YRI][hapmap]
rs1550477	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053426	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919427	0.89[ASW][hapmap]
rs2919429	0.87[ASW][hapmap]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972808	0.81[YRI][hapmap]
rs2972809	0.81[YRI][hapmap]
rs2972815	1.00[AMR][1000 genomes]
rs4268760	0.86[AFR][1000 genomes]
rs4617878	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889504	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889505	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889507	0.86[AFR][1000 genomes]
rs4889508	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	1.00[ASW][hapmap];0.95[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565198	0.83[YRI][hapmap]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	0.87[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs71380412	0.89[AFR][1000 genomes]
rs7185136	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7193412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045293	0.83[AFR][1000 genomes]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8056105	0.95[AFR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893927	1.00[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921630	1.00[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926855	0.83[AFR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers 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	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30797200-30799400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr16:30797200-30799400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30797200-30799400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr16:30797800-30799400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:30797800-30799400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:30798400-30799400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr16:30798400-30799600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr16:30798400-30799600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:30798400-30799600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr16:30798600-30799400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:30798600-30799400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:30798600-30799400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr16:30798600-30799400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:30798600-30799400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:30798600-30799400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr16:30798600-30799400	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr16:30798600-30799400	Flanking Active TSS	HSMM	muscle
18	chr16:30798600-30799400	Flanking Active TSS	HUVEC	blood vessel
19	chr16:30798600-30799400	Flanking Active TSS	K562	blood
20	chr16:30798600-30799400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr16:30798600-30799400	Flanking Active TSS	NH-A	brain
22	chr16:30798800-30799400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:30798800-30799400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:30798800-30799400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:30798800-30799400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:30798800-30799400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:30798800-30799400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:30798800-30799400	Flanking Active TSS	Liver	Liver
29	chr16:30798800-30799400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr16:30798800-30799400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr16:30798800-30799400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:30798800-30799400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:30798800-30799400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr16:30798800-30799400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr16:30798800-30799400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr16:30798800-30799400	Flanking Active TSS	Fetal Brain Male	brain
37	chr16:30798800-30799400	Flanking Active TSS	Right Ventricle	heart
38	chr16:30798800-30799400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr16:30798800-30799400	Flanking Active TSS	A549	lung
40	chr16:30798800-30799400	Bivalent/Poised TSS	GM12878-XiMat	blood
41	chr16:30798800-30799400	Flanking Active TSS	Hela-S3	cervix
42	chr16:30798800-30799600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:30798800-30800000	Enhancers	Spleen	Spleen
44	chr16:30799000-30799400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr16:30799000-30799400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr16:30799000-30799400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr16:30799000-30799400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr16:30799000-30799400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr16:30799000-30799400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr16:30799000-30799400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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