Variant report

Variant	rs1445946
Chromosome Location	chr5:16727534-16727535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9954081..9954722-chr5:16726991..16727551,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11133857	0.90[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes]
rs12189316	0.90[CEU][hapmap]
rs13356962	0.90[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34998371	0.83[EUR][1000 genomes]
rs6899227	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72732217	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking 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	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
3	chr5:16711400-16727800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:16711400-16728200	Weak transcription	Spleen	Spleen
5	chr5:16711400-16730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:16711400-16731800	Weak transcription	HMEC	breast
7	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
8	chr5:16713800-16731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
10	chr5:16714000-16730200	Weak transcription	Osteobl	bone
11	chr5:16714200-16730400	Weak transcription	NHLF	lung
12	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
13	chr5:16714400-16730000	Weak transcription	NH-A	brain
14	chr5:16714600-16728200	Weak transcription	Psoas Muscle	Psoas
15	chr5:16722200-16730200	Weak transcription	Stomach Mucosa	stomach
16	chr5:16722200-16734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:16722400-16728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:16722400-16728000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:16722400-16728000	Weak transcription	Lung	lung
20	chr5:16722400-16728000	Weak transcription	Pancreas	Pancrea
21	chr5:16722400-16728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:16722400-16729800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:16722400-16730000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:16722400-16730000	Weak transcription	NHEK	skin
25	chr5:16722400-16730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:16722400-16734000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:16722600-16727800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:16722600-16728200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:16722800-16727800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:16722800-16728000	Weak transcription	HepG2	liver
32	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:16724000-16728000	Weak transcription	Right Ventricle	heart
34	chr5:16724400-16728000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:16724600-16734800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:16724800-16727800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:16724800-16728800	Weak transcription	Fetal Intestine Large	intestine
38	chr5:16725000-16727800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:16725000-16728000	Weak transcription	Ovary	ovary
40	chr5:16725800-16729000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:16725800-16729200	Enhancers	Brain Anterior Caudate	brain
42	chr5:16725800-16730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:16726000-16727600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:16726000-16728000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:16726200-16727800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:16726200-16727800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:16726200-16728800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:16726200-16729000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:16726200-16729000	Enhancers	HSMMtube	muscle
50	chr5:16726200-16729600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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