Variant report

Variant	rs1465457
Chromosome Location	chr16:72046268-72046269
allele	C/G
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	ZNF263	chr16:72045805-72046503	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr16:72045322-72048851	PBDE	blood:	n/a	n/a

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
ENSG00000102984	Chromatin interaction
ENSG00000140829	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000140830	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10048144	0.92[ASN][1000 genomes]
rs10492813	0.93[YRI][hapmap]
rs10492814	0.93[YRI][hapmap]
rs1050361	0.94[YRI][hapmap]
rs1050363	0.93[YRI][hapmap]
rs11864188	0.81[AMR][1000 genomes]
rs12599952	0.81[AMR][1000 genomes]
rs12924413	0.94[YRI][hapmap]
rs12932845	0.93[YRI][hapmap]
rs2070939	0.88[YRI][hapmap]
rs2072141	0.94[YRI][hapmap]
rs217181	0.93[YRI][hapmap]
rs2241411	0.86[YRI][hapmap]
rs2303285	0.93[YRI][hapmap]
rs2550035	0.93[YRI][hapmap]
rs2550038	0.88[YRI][hapmap]
rs2878404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764310	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764311	0.94[YRI][hapmap]
rs3764314	0.93[YRI][hapmap]
rs3844425	0.93[YRI][hapmap]
rs3852781	0.88[YRI][hapmap]
rs3852782	0.88[YRI][hapmap]
rs4788454	0.89[JPT][hapmap]
rs4788456	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4788597	0.92[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4788598	0.92[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4788600	0.88[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs752434	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7940	0.94[YRI][hapmap]
rs8048262	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8059437	0.93[YRI][hapmap]
rs8062895	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929866	0.89[JPT][hapmap]
rs9924964	0.94[YRI][hapmap]
rs9926156	0.83[YRI][hapmap]
rs9926927	0.93[YRI][hapmap]
rs9927526	0.88[YRI][hapmap]
rs9928157	0.94[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	chr16:72043200-72046400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:72043200-72046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:72043200-72046400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:72043200-72046400	Weak transcription	Brain Anterior Caudate	brain
8	chr16:72043200-72046400	Weak transcription	Brain Germinal Matrix	brain
9	chr16:72043200-72046400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:72043200-72046400	Weak transcription	Esophagus	oesophagus
11	chr16:72043200-72046400	Weak transcription	Fetal Brain Female	brain
12	chr16:72043200-72046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:72043200-72046400	Weak transcription	NHEK	skin
14	chr16:72043200-72046400	Weak transcription	NHLF	lung
15	chr16:72043200-72046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:72043200-72046600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:72043200-72046600	Weak transcription	Left Ventricle	heart
18	chr16:72043200-72046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:72043200-72046800	Weak transcription	Right Ventricle	heart
20	chr16:72043200-72047000	Weak transcription	Placenta	Placenta
21	chr16:72043200-72047000	Weak transcription	Ovary	ovary
22	chr16:72043200-72047000	Weak transcription	Stomach Mucosa	stomach
23	chr16:72043200-72047200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:72043200-72047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr16:72043200-72047200	Weak transcription	Adipose Nuclei	Adipose
26	chr16:72043200-72047200	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:72043200-72047200	Weak transcription	Lung	lung
28	chr16:72043200-72047200	Weak transcription	Psoas Muscle	Psoas
29	chr16:72043200-72047200	Weak transcription	HSMMtube	muscle
30	chr16:72043200-72047200	Weak transcription	Osteobl	bone
31	chr16:72043200-72047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:72043200-72047400	Weak transcription	NH-A	brain
33	chr16:72043200-72047800	Weak transcription	Thymus	Thymus
34	chr16:72043200-72048600	Weak transcription	Primary B cells from cord blood	blood
35	chr16:72043200-72049200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr16:72043200-72049400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:72043200-72049400	Weak transcription	Brain Substantia Nigra	brain
38	chr16:72043200-72049400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:72043200-72049600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:72043200-72049600	Weak transcription	Fetal Kidney	kidney
41	chr16:72043200-72049800	Weak transcription	Gastric	stomach
42	chr16:72043200-72051000	Weak transcription	Fetal Lung	lung
43	chr16:72043200-72051800	Weak transcription	Fetal Thymus	thymus
44	chr16:72043200-72052200	Weak transcription	Brain Angular Gyrus	brain
45	chr16:72043200-72053400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr16:72043200-72054000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:72043200-72054600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:72043200-72054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:72043200-72054800	Weak transcription	Pancreas	Pancrea
50	chr16:72043200-72055000	Weak transcription	Colon Smooth Muscle	Colon

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