Variant report

Variant	rs441333
Chromosome Location	chr16:79626806-79626807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:78160357..78162978-chr16:79625848..79627418,2	MCF-7	breast:
2	chr16:79622643..79628144-chr16:79628669..79635430,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178573	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28461478	0.81[ASN][1000 genomes]
rs30413	0.82[ASN][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:68 , 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	chr16:79623800-79629200	Weak transcription	Aorta	Aorta
4	chr16:79624000-79627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:79624000-79628800	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:79624000-79629000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:79624000-79629800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:79624200-79627000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:79624400-79627000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:79624400-79629000	Weak transcription	Ovary	ovary
11	chr16:79624600-79627600	Weak transcription	Small Intestine	intestine
12	chr16:79624800-79627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:79624800-79627200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:79624800-79627200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr16:79624800-79627600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:79624800-79627600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr16:79624800-79629000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:79624800-79629600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:79624800-79630000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:79624800-79630800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:79624800-79631400	Weak transcription	Esophagus	oesophagus
22	chr16:79624800-79632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:79625000-79627600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr16:79625000-79628000	Weak transcription	Placenta	Placenta
25	chr16:79625000-79628600	Weak transcription	Fetal Intestine Small	intestine
26	chr16:79625000-79629200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr16:79625200-79627200	Active TSS	NHDF-Ad	bronchial
28	chr16:79625400-79627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:79625400-79627400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr16:79625400-79627400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr16:79625400-79628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:79625400-79628400	Weak transcription	Fetal Intestine Large	intestine
33	chr16:79625800-79627400	Active TSS	Brain Substantia Nigra	brain
34	chr16:79625800-79627800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr16:79625800-79636800	Active TSS	Psoas Muscle	Psoas
36	chr16:79626000-79627200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:79626000-79627200	Active TSS	Brain Hippocampus Middle	brain
38	chr16:79626000-79628600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:79626200-79627200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:79626200-79627200	Enhancers	HSMMtube	muscle
41	chr16:79626200-79628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:79626400-79627000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr16:79626400-79627000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:79626400-79627000	Enhancers	Brain Cingulate Gyrus	brain
45	chr16:79626400-79627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:79626400-79628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:79626400-79629400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr16:79626400-79631800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:79626600-79627000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr16:79626600-79627200	Active TSS	Brain Anterior Caudate	brain

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