Variant report

Variant	rs16893456
Chromosome Location	chr8:121049480-121049481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121048344..121050825-chr8:121050887..121053593,2	MCF-7	breast:
2	chr8:120995322..120997703-chr8:121049057..121050799,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL14A1-2	chr8:121048080-121049710	NONHSAT128446

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10104973	0.81[YRI][hapmap]
rs10955954	0.82[YRI][hapmap]
rs12678023	0.81[YRI][hapmap]
rs16892894	0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893464	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893485	0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893520	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60560198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61424529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6997897	0.81[AFR][1000 genomes]
rs7010834	0.86[YRI][hapmap]
rs73704214	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking 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	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
5	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
8	chr8:121044800-121050000	Enhancers	Ovary	ovary
9	chr8:121045000-121056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:121045200-121053400	Weak transcription	Liver	Liver
11	chr8:121046200-121053000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:121046200-121053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
14	chr8:121046400-121056600	Weak transcription	Gastric	stomach
15	chr8:121046600-121052800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:121047000-121050000	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:121048000-121049800	Enhancers	Fetal Stomach	stomach
18	chr8:121048200-121052200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:121048400-121057800	Weak transcription	Fetal Intestine Small	intestine
20	chr8:121048600-121049600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:121048600-121050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:121048600-121061800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:121048600-121061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:121048800-121052800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:121048800-121053000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:121048800-121053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:121048800-121053000	Weak transcription	Stomach Mucosa	stomach
28	chr8:121048800-121053400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:121048800-121053600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:121049000-121050000	Enhancers	Colon Smooth Muscle	Colon
33	chr8:121049000-121050200	Enhancers	Fetal Kidney	kidney
34	chr8:121049000-121051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:121049000-121052800	Weak transcription	Brain Substantia Nigra	brain
36	chr8:121049000-121053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:121049000-121053000	Weak transcription	Brain Angular Gyrus	brain
38	chr8:121049000-121053000	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:121049000-121054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:121049200-121062200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
42	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:121049400-121051200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:121049400-121051200	Weak transcription	Osteobl	bone
45	chr8:121049400-121053400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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