Variant report

Variant	rs8061292
Chromosome Location	chr16:72046477-72046478
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:72046380-72047573	K562	blood:	n/a	chr16:72046663-72046672 chr16:72046661-72046674 chr16:72046662-72046673 chr16:72046662-72046673 chr16:72046665-72046672 chr16:72046663-72046673 chr16:72046661-72046674 chr16:72046664-72046673 chr16:72046665-72046681
2	ZNF263	chr16:72045805-72046503	HEK293-T-REx	kidney:	n/a	n/a
3	E2F6	chr16:72046463-72046788	K562	blood:	n/a	n/a
4	E2F6	chr16:72046420-72048097	K562	blood:	n/a	n/a
5	POLR2A	chr16:72045322-72048851	PBDE	blood:	n/a	n/a
6	MYC	chr16:72046463-72046823	MCF10A-Er-Src	breast:	n/a	chr16:72046663-72046672 chr16:72046661-72046674 chr16:72046662-72046673 chr16:72046662-72046673 chr16:72046665-72046672 chr16:72046663-72046673 chr16:72046661-72046674 chr16:72046664-72046673 chr16:72046665-72046681

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
2	chr16:71927973..71929865-chr16:72045946..72047910,3	MCF-7	breast:

Variant related genes	Relation type
DHODH	TF binding region
ENSG00000140830	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000140829	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1049933	0.85[AMR][1000 genomes]
rs12325171	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs12325593	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs13333207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334681	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs13335854	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338949	0.85[AMR][1000 genomes]
rs16970697	0.85[AMR][1000 genomes]
rs16973619	0.85[YRI][hapmap]
rs16973640	0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16973723	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs28455724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507713	0.85[AMR][1000 genomes]
rs28557204	0.85[AMR][1000 genomes]
rs28610193	0.86[AFR][1000 genomes]
rs28639994	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35184823	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4788614	0.95[YRI][hapmap]
rs56978453	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57024912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61074815	0.85[AMR][1000 genomes]
rs7184834	0.85[YRI][hapmap]
rs7186117	0.85[YRI][hapmap]
rs7186448	0.85[AMR][1000 genomes]
rs7188150	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188462	0.85[AMR][1000 genomes]
rs7189506	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189654	0.89[YRI][hapmap]
rs7191270	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7191499	0.85[AMR][1000 genomes]
rs7194569	0.85[AMR][1000 genomes]
rs7203195	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs73578560	0.85[AMR][1000 genomes]
rs73580679	0.85[AMR][1000 genomes]
rs73582412	0.85[AMR][1000 genomes]
rs8045316	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047881	0.90[YRI][hapmap]
rs8052025	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8055216	0.85[AMR][1000 genomes]
rs8056409	0.86[AFR][1000 genomes]
rs8056752	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8057379	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs8061439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921752	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs9923961	0.85[AMR][1000 genomes]
rs9925225	0.80[YRI][hapmap]
rs9925476	0.85[AMR][1000 genomes]
rs9925493	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs9932236	0.85[AMR][1000 genomes]
rs9934521	0.85[AMR][1000 genomes]
rs9940996	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs9972770	0.85[YRI][hapmap]

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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	esv1843253	chr16:72042428-72059149	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043000-72046800	Weak transcription	Fetal Heart	heart
2	chr16:72043000-72049600	Weak transcription	Aorta	Aorta
3	chr16:72043000-72063000	Weak transcription	Small Intestine	intestine
4	chr16:72043200-72046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:72043200-72046600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr16:72043200-72046600	Weak transcription	Left Ventricle	heart
7	chr16:72043200-72046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:72043200-72046800	Weak transcription	Right Ventricle	heart
9	chr16:72043200-72047000	Weak transcription	Placenta	Placenta
10	chr16:72043200-72047000	Weak transcription	Ovary	ovary
11	chr16:72043200-72047000	Weak transcription	Stomach Mucosa	stomach
12	chr16:72043200-72047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:72043200-72047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:72043200-72047200	Weak transcription	Adipose Nuclei	Adipose
15	chr16:72043200-72047200	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:72043200-72047200	Weak transcription	Lung	lung
17	chr16:72043200-72047200	Weak transcription	Psoas Muscle	Psoas
18	chr16:72043200-72047200	Weak transcription	HSMMtube	muscle
19	chr16:72043200-72047200	Weak transcription	Osteobl	bone
20	chr16:72043200-72047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:72043200-72047400	Weak transcription	NH-A	brain
22	chr16:72043200-72047800	Weak transcription	Thymus	Thymus
23	chr16:72043200-72048600	Weak transcription	Primary B cells from cord blood	blood
24	chr16:72043200-72049200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:72043200-72049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:72043200-72049400	Weak transcription	Brain Substantia Nigra	brain
27	chr16:72043200-72049400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:72043200-72049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:72043200-72049600	Weak transcription	Fetal Kidney	kidney
30	chr16:72043200-72049800	Weak transcription	Gastric	stomach
31	chr16:72043200-72051000	Weak transcription	Fetal Lung	lung
32	chr16:72043200-72051800	Weak transcription	Fetal Thymus	thymus
33	chr16:72043200-72052200	Weak transcription	Brain Angular Gyrus	brain
34	chr16:72043200-72053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr16:72043200-72054000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:72043200-72054600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:72043200-72054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:72043200-72054800	Weak transcription	Pancreas	Pancrea
39	chr16:72043200-72055000	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:72043200-72055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr16:72043200-72055200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr16:72043200-72056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:72043200-72056600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:72043200-72057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:72043200-72057800	Weak transcription	NHDF-Ad	bronchial
46	chr16:72043200-72061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:72043200-72062800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr16:72043400-72051000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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