Variant report

Variant	rs2446084
Chromosome Location	chr16:81428803-81428804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81422372..81424000-chr16:81428464..81431283,2	MCF-7	breast:
2	chr16:81414835..81419984-chr16:81427493..81431152,5	K562	blood:
3	chr16:81406517..81408767-chr16:81427027..81429941,2	K562	blood:
4	chr16:81417123..81419984-chr16:81427493..81430787,3	K562	blood:
5	chr16:81427513..81429948-chr16:81435668..81437409,2	K562	blood:

Variant related genes	Relation type
ENSG00000272923	Chromatin interaction
ENSG00000273048	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs182559	0.80[EUR][1000 genomes]
rs192835	0.81[EUR][1000 genomes]
rs2550746	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2550749	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2608562	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2615701	0.80[CEU][hapmap]
rs2927314	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs310024	0.81[AMR][1000 genomes]
rs310025	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs310032	0.87[CEU][hapmap]
rs3127538	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7630	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs9928509	0.80[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:70 , 50 per page) page: 1 2

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	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr16:81411400-81429600	Weak transcription	HSMM	muscle
7	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:81411800-81431000	Weak transcription	K562	blood
9	chr16:81411800-81432400	Weak transcription	A549	lung
10	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
11	chr16:81413400-81434200	Weak transcription	HMEC	breast
12	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:81418600-81430600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:81418600-81431000	Weak transcription	Brain Germinal Matrix	brain
16	chr16:81418600-81437400	Weak transcription	Fetal Lung	lung
17	chr16:81419000-81429400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:81422200-81432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:81423200-81437400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:81423400-81429800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:81423400-81431600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81423600-81433400	Weak transcription	NHEK	skin
23	chr16:81425000-81431600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:81425000-81431800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr16:81425000-81434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:81425000-81437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:81425200-81431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:81425200-81431800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:81425200-81434600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:81425800-81432400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:81425800-81434600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:81426000-81429000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:81426000-81429800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:81426000-81430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:81426000-81430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr16:81426000-81431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:81426000-81434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:81426000-81434400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:81426000-81436800	Weak transcription	Dnd41	blood
40	chr16:81426000-81437000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:81426000-81437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:81426000-81437200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81426000-81437200	Weak transcription	Liver	Liver
44	chr16:81426000-81437200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr16:81426000-81437400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:81426000-81437400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr16:81426200-81431000	Weak transcription	Fetal Intestine Small	intestine
48	chr16:81426200-81432600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:81426400-81431000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:81426400-81437000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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