Variant report

Variant	rs16953946
Chromosome Location	chr16:80785448-80785449
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	chr16:80765116..80767269-chr16:80784443..80786538,2	MCF-7	breast:
2	chr16:80781071..80782918-chr16:80783959..80785487,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12446720	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16953944	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34645828	0.88[AFR][1000 genomes]
rs4513113	0.82[CEU][hapmap]
rs7187075	0.91[CEU][hapmap]
rs729936	0.81[CEU][hapmap]
rs8047203	0.90[CEU][hapmap]
rs8182227	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9923522	0.97[EUR][1000 genomes]
rs9931394	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9932033	0.91[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1851516	chr16:80766198-80813696	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80774200-80785600	Weak transcription	Fetal Intestine Small	intestine
2	chr16:80776800-80785600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:80778800-80793200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:80779000-80788800	Weak transcription	Gastric	stomach
5	chr16:80779400-80796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:80784800-80785600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr16:80785000-80785600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:80785000-80785600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:80785000-80785600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80785000-80785600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:80785000-80785600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:80785000-80785600	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:80785000-80785600	Enhancers	Fetal Muscle Leg	muscle
14	chr16:80785000-80785600	Flanking Active TSS	Hela-S3	cervix
15	chr16:80785000-80785800	Enhancers	Placenta	Placenta
16	chr16:80785000-80785800	Enhancers	Osteobl	bone
17	chr16:80785000-80786000	Enhancers	Liver	Liver
18	chr16:80785000-80786800	Enhancers	HUVEC	blood vessel
19	chr16:80785200-80785600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr16:80785200-80785600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:80785200-80785600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr16:80785200-80785600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr16:80785200-80785600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:80785200-80785600	Enhancers	Brain Cingulate Gyrus	brain
25	chr16:80785200-80785600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:80785200-80785600	Enhancers	Fetal Lung	lung
27	chr16:80785200-80785600	Enhancers	Psoas Muscle	Psoas
28	chr16:80785200-80785600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr16:80785200-80785600	Enhancers	Small Intestine	intestine
30	chr16:80785200-80785600	Enhancers	NH-A	brain
31	chr16:80785200-80785600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr16:80785200-80785800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr16:80785200-80785800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:80785200-80785800	Enhancers	Adipose Nuclei	Adipose
35	chr16:80785200-80785800	Enhancers	HepG2	liver
36	chr16:80785200-80786200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:80785400-80785600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:80785400-80786200	Enhancers	Primary T helper cells PMA-I stimulated	--

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