Variant report

Variant	rs28461478
Chromosome Location	chr16:79625567-79625568
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	chr16:79622643..79628144-chr16:79628669..79635430,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs30413	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs441333	0.81[ASN][1000 genomes]
rs60533944	0.84[AMR][1000 genomes];0.81[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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv457554	chr16:79608408-79645989	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv573289	chr16:79608408-79645989	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv827768	chr16:79615278-79640094	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79615800-79627200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:79622200-79631400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:79623000-79626800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:79623800-79625800	Enhancers	Brain Substantia Nigra	brain
5	chr16:79623800-79626000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:79623800-79629200	Weak transcription	Aorta	Aorta
7	chr16:79624000-79625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:79624000-79625800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:79624000-79626000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:79624000-79626000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr16:79624000-79626000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:79624000-79626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:79624000-79626400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:79624000-79626400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:79624000-79626800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:79624000-79626800	Enhancers	Adipose Nuclei	Adipose
17	chr16:79624000-79626800	Weak transcription	Right Atrium	heart
18	chr16:79624000-79627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:79624000-79628800	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:79624000-79629000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:79624000-79629800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:79624200-79625600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr16:79624200-79627000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:79624400-79625600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:79624400-79626800	Enhancers	Fetal Muscle Leg	muscle
26	chr16:79624400-79627000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:79624400-79629000	Weak transcription	Ovary	ovary
28	chr16:79624600-79625800	Enhancers	Brain Hippocampus Middle	brain
29	chr16:79624600-79626200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:79624600-79626800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:79624600-79626800	Enhancers	Fetal Lung	lung
32	chr16:79624600-79627600	Weak transcription	Small Intestine	intestine
33	chr16:79624800-79625800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:79624800-79626400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:79624800-79627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:79624800-79627200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:79624800-79627200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:79624800-79627600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr16:79624800-79627600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr16:79624800-79629000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:79624800-79629600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:79624800-79630000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:79624800-79630800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr16:79624800-79631400	Weak transcription	Esophagus	oesophagus
45	chr16:79624800-79632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:79625000-79627600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr16:79625000-79628000	Weak transcription	Placenta	Placenta
48	chr16:79625000-79628600	Weak transcription	Fetal Intestine Small	intestine
49	chr16:79625000-79629200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:79625200-79625600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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