Variant report

Variant	rs16971338
Chromosome Location	chr16:72893697-72893698
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72881425..72884440-chr16:72889651..72893703,3	MCF-7	breast:
2	chr16:72893172..72894972-chr16:72898308..72901387,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12445722	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12445743	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16971335	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4461079	0.88[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788665	0.81[GIH][hapmap]
rs60056526	0.98[ASN][1000 genomes]
rs7184235	1.00[JPT][hapmap]
rs7190473	0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7193479	0.98[ASN][1000 genomes]
rs7197411	0.88[CHB][hapmap];0.91[ASN][1000 genomes]
rs7201079	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7204991	0.89[ASN][1000 genomes]
rs8050587	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9888808	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9889054	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9936586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv572959	chr16:72890216-72923327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72883200-72899200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:72883200-72909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:72883400-72898400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72883400-72898600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:72883400-72908400	Weak transcription	Fetal Intestine Large	intestine
6	chr16:72883400-72918800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:72883600-72912200	Weak transcription	Ovary	ovary
8	chr16:72883800-72908800	Weak transcription	Hela-S3	cervix
9	chr16:72884200-72899200	Weak transcription	Liver	Liver
10	chr16:72884200-72902200	Weak transcription	Right Ventricle	heart
11	chr16:72884200-72911600	Weak transcription	Gastric	stomach
12	chr16:72885200-72909000	Weak transcription	Lung	lung
13	chr16:72885400-72898200	Weak transcription	A549	lung
14	chr16:72888200-72894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:72889200-72902400	Weak transcription	Spleen	Spleen
16	chr16:72889200-72908800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr16:72890400-72899000	Weak transcription	Aorta	Aorta
18	chr16:72891000-72894000	Enhancers	Brain Anterior Caudate	brain
19	chr16:72891000-72894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:72891400-72908400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:72891600-72894000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:72891600-72894200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:72891800-72893800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr16:72891800-72894000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr16:72891800-72894200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:72891800-72894200	Enhancers	Fetal Stomach	stomach
27	chr16:72891800-72894400	Enhancers	Fetal Lung	lung
28	chr16:72891800-72895600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:72891800-72899200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:72892000-72894200	Enhancers	HSMMtube	muscle
31	chr16:72892000-72896200	Enhancers	Placenta	Placenta
32	chr16:72892200-72893800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:72892200-72893800	Enhancers	Fetal Kidney	kidney
34	chr16:72892200-72894200	Enhancers	NHDF-Ad	bronchial
35	chr16:72892400-72893800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:72892400-72893800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr16:72892400-72894000	Flanking Active TSS	NHLF	lung
38	chr16:72892400-72894200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:72892400-72894200	Enhancers	HSMM	muscle
40	chr16:72892400-72895400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:72892600-72894200	Flanking Active TSS	Osteobl	bone
42	chr16:72892600-72894400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:72892600-72900000	Weak transcription	Brain Angular Gyrus	brain
44	chr16:72892800-72895000	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:72892800-72897400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:72893000-72893800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:72893000-72893800	Enhancers	Rectal Smooth Muscle	rectum
48	chr16:72893000-72894000	Strong transcription	HepG2	liver
49	chr16:72893000-72894600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr16:72893000-72894800	Weak transcription	Brain Cingulate Gyrus	brain

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