Variant report

Variant	rs12189316
Chromosome Location	chr5:16733947-16733948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16729939..16731528-chr5:16732175..16733967,2	MCF-7	breast:
2	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10043510	0.85[CHB][hapmap]
rs11133857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13356962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1445946	0.90[CEU][hapmap]
rs28540543	0.96[EUR][1000 genomes]
rs34998371	0.95[EUR][1000 genomes]
rs61561869	0.95[ASN][1000 genomes]
rs6899227	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72732217	0.95[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:82 , 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	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
5	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
6	chr5:16722200-16734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:16722400-16734000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16724600-16734800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:16727600-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:16728400-16735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:16728400-16736200	Weak transcription	Ovary	ovary
14	chr5:16728400-16736800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:16728600-16735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:16728600-16735200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:16728600-16735400	Weak transcription	Lung	lung
18	chr5:16728600-16736200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:16728800-16735000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:16729000-16734800	Weak transcription	Pancreas	Pancrea
21	chr5:16729000-16735800	Weak transcription	Brain Angular Gyrus	brain
22	chr5:16729000-16736000	Weak transcription	Spleen	Spleen
23	chr5:16729000-16736400	Weak transcription	Psoas Muscle	Psoas
24	chr5:16729800-16735600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:16730000-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:16730000-16735600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:16730200-16734000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:16730200-16734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:16730200-16735200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr5:16730200-16735200	Strong transcription	HSMMtube	muscle
31	chr5:16730400-16734000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:16730800-16735000	Weak transcription	Stomach Mucosa	stomach
33	chr5:16730800-16735800	Strong transcription	HUVEC	blood vessel
34	chr5:16730800-16741400	Strong transcription	A549	lung
35	chr5:16730800-16744400	Weak transcription	HSMM	muscle
36	chr5:16731000-16734000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:16731000-16734400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:16731000-16735400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:16731600-16735400	Strong transcription	NH-A	brain
40	chr5:16731800-16734000	Genic enhancers	H1 Cell Line	embryonic stem cell
41	chr5:16731800-16735600	Enhancers	Fetal Brain Male	brain
42	chr5:16731800-16736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:16732000-16736000	Weak transcription	NHLF	lung
44	chr5:16732000-16736200	Weak transcription	Gastric	stomach
45	chr5:16732200-16734000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:16732200-16734200	Enhancers	Fetal Lung	lung
47	chr5:16732200-16734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:16732200-16734800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:16732200-16735200	Weak transcription	Fetal Stomach	stomach
50	chr5:16732200-16735400	Weak transcription	Fetal Muscle Leg	muscle

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