Variant report

Variant	rs72732217
Chromosome Location	chr5:16735640-16735641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
2	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:
3	chr5:16735245..16737580-chr5:16952824..16955569,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10050431	0.87[AFR][1000 genomes]
rs10073942	0.83[AFR][1000 genomes]
rs10074163	0.85[AFR][1000 genomes]
rs11133857	0.95[EUR][1000 genomes]
rs12189316	0.95[EUR][1000 genomes]
rs13356962	0.98[EUR][1000 genomes]
rs13361391	0.85[AFR][1000 genomes]
rs1445946	0.83[EUR][1000 genomes]
rs28540543	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34998371	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899227	0.99[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:85 , 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	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
4	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
5	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:16728400-16736200	Weak transcription	Ovary	ovary
7	chr5:16728400-16736800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:16728600-16736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:16729000-16735800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:16729000-16736000	Weak transcription	Spleen	Spleen
11	chr5:16729000-16736400	Weak transcription	Psoas Muscle	Psoas
12	chr5:16730800-16735800	Strong transcription	HUVEC	blood vessel
13	chr5:16730800-16741400	Strong transcription	A549	lung
14	chr5:16730800-16744400	Weak transcription	HSMM	muscle
15	chr5:16731800-16736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:16732000-16736000	Weak transcription	NHLF	lung
17	chr5:16732000-16736200	Weak transcription	Gastric	stomach
18	chr5:16732400-16736000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:16732400-16736000	Weak transcription	Adipose Nuclei	Adipose
20	chr5:16733600-16737800	Enhancers	Fetal Kidney	kidney
21	chr5:16733800-16736200	Weak transcription	Osteobl	bone
22	chr5:16734000-16735800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:16734000-16736000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:16734000-16736000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:16734000-16736800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:16734200-16737800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:16734400-16735800	Enhancers	Brain Substantia Nigra	brain
28	chr5:16734400-16736000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:16734600-16735800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:16734800-16736400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:16734800-16737000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:16734800-16739200	Enhancers	Pancreas	Pancrea
34	chr5:16735000-16735800	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:16735000-16735800	Flanking Active TSS	HepG2	liver
36	chr5:16735000-16735800	Enhancers	HMEC	breast
37	chr5:16735000-16736200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:16735000-16736600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr5:16735000-16736600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:16735000-16736800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr5:16735000-16737000	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr5:16735000-16737800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:16735000-16738600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:16735000-16738600	Enhancers	Fetal Lung	lung
45	chr5:16735000-16739400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:16735000-16739400	Enhancers	Stomach Mucosa	stomach
47	chr5:16735200-16735800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:16735200-16735800	Enhancers	Fetal Stomach	stomach
49	chr5:16735200-16736000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:16735200-16736000	Enhancers	Brain Inferior Temporal Lobe	brain

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