Variant report

Variant	rs830719
Chromosome Location	chr16:12321725-12321726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12321706..12323934-chr16:12329346..12331176,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1701134	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1704137	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941081	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2941082	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2941085	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830715	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830717	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830718	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830720	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830727	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs830735	0.80[EUR][1000 genomes]
rs864935	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:12282800-12322600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:12292200-12322200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:12294800-12322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12296600-12322600	Weak transcription	Right Ventricle	heart
6	chr16:12297000-12322400	Weak transcription	Ovary	ovary
7	chr16:12297400-12353800	Weak transcription	Gastric	stomach
8	chr16:12298800-12322000	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:12299600-12322200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:12299600-12322400	Weak transcription	Spleen	Spleen
11	chr16:12302600-12322000	Weak transcription	Esophagus	oesophagus
12	chr16:12302800-12322000	Weak transcription	NHDF-Ad	bronchial
13	chr16:12302800-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:12303000-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:12303200-12322800	Weak transcription	NHEK	skin
16	chr16:12303800-12321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:12306200-12323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:12306400-12330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:12306600-12322200	Weak transcription	NHLF	lung
20	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:12308200-12322200	Weak transcription	Adipose Nuclei	Adipose
22	chr16:12308600-12322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:12309800-12321800	Weak transcription	Fetal Intestine Small	intestine
24	chr16:12309800-12322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:12310000-12322800	Weak transcription	Fetal Thymus	thymus
27	chr16:12310600-12328600	Weak transcription	Aorta	Aorta
28	chr16:12311000-12322400	Weak transcription	Lung	lung
29	chr16:12311800-12333400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:12313800-12322000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:12313800-12329800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr16:12314000-12329000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:12316200-12322800	Weak transcription	Primary T cells from cord blood	blood
34	chr16:12318400-12322400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr16:12319400-12327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:12319600-12323200	Weak transcription	Primary B cells from cord blood	blood
37	chr16:12319600-12327600	Weak transcription	GM12878-XiMat	blood
38	chr16:12319800-12322200	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:12319800-12322400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:12319800-12323800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:12319800-12324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:12319800-12328600	Weak transcription	Brain Angular Gyrus	brain
43	chr16:12320000-12323600	Weak transcription	Brain Substantia Nigra	brain
44	chr16:12320200-12322000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:12320200-12322200	Weak transcription	Brain Anterior Caudate	brain
46	chr16:12320200-12322600	Weak transcription	Fetal Brain Female	brain
47	chr16:12320200-12323600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:12320200-12332600	Weak transcription	Brain Germinal Matrix	brain
49	chr16:12320400-12321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:12320400-12322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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