Variant report

Variant	rs3127538
Chromosome Location	chr16:81426892-81426893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81411383..81414632-chr16:81425808..81428318,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs182559	0.86[EUR][1000 genomes]
rs192835	0.86[EUR][1000 genomes]
rs2446084	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2550746	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550749	0.99[EUR][1000 genomes]
rs2608562	1.00[EUR][1000 genomes]
rs2927314	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs310022	0.80[EUR][1000 genomes]
rs310024	0.85[EUR][1000 genomes]
rs310025	0.86[EUR][1000 genomes]
rs7630	0.87[EUR][1000 genomes]
rs9928509	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
5	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
9	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
10	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
11	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr16:81411400-81429600	Weak transcription	HSMM	muscle
13	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
14	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
16	chr16:81411800-81428200	Weak transcription	Osteobl	bone
17	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
18	chr16:81411800-81431000	Weak transcription	K562	blood
19	chr16:81411800-81432400	Weak transcription	A549	lung
20	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
21	chr16:81412600-81427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:81412600-81427200	Weak transcription	NHDF-Ad	bronchial
23	chr16:81413000-81428400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:81413400-81434200	Weak transcription	HMEC	breast
25	chr16:81415200-81427600	Weak transcription	Primary B cells from cord blood	blood
26	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:81418200-81427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:81418200-81427600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:81418600-81427800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:81418600-81430600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:81418600-81431000	Weak transcription	Brain Germinal Matrix	brain
33	chr16:81418600-81437400	Weak transcription	Fetal Lung	lung
34	chr16:81419000-81428400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:81419000-81429400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:81419200-81427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:81419200-81428200	Weak transcription	Brain Anterior Caudate	brain
38	chr16:81419200-81428200	Weak transcription	Brain Hippocampus Middle	brain
39	chr16:81420200-81428600	Weak transcription	HUVEC	blood vessel
40	chr16:81422200-81432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr16:81423200-81428800	Weak transcription	Placenta	Placenta
42	chr16:81423200-81437400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:81423400-81429800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:81423400-81431600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:81423600-81433400	Weak transcription	NHEK	skin
46	chr16:81425000-81427800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:81425000-81428800	Weak transcription	Colonic Mucosa	Colon
48	chr16:81425000-81431600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:81425000-81431800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:81425000-81434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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