Variant report

Variant	rs72719773
Chromosome Location	chr14:71066493-71066494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr14:71066409-71067878	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71060891..71063654-chr14:71065972..71067588,2	MCF-7	breast:
2	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:

Variant related genes	Relation type
MED6	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000258951	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10134765	0.85[ASN][1000 genomes]
rs10135054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10142880	0.88[AFR][1000 genomes]
rs10144849	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145399	0.83[AFR][1000 genomes]
rs10145606	0.85[ASN][1000 genomes]
rs2233136	0.95[EUR][1000 genomes]
rs55638679	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55788982	0.90[ASN][1000 genomes]
rs55830682	0.90[ASN][1000 genomes]
rs55831916	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55844620	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55861611	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55881091	0.85[ASN][1000 genomes]
rs55988558	0.90[ASN][1000 genomes]
rs56118324	0.90[ASN][1000 genomes]
rs56284928	0.90[ASN][1000 genomes]
rs56322329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56389452	0.90[ASN][1000 genomes]
rs56405439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59480415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66883325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66915556	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67358716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67988556	0.90[ASN][1000 genomes]
rs7154970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719730	0.90[ASN][1000 genomes]
rs72719731	0.90[ASN][1000 genomes]
rs72719734	0.90[ASN][1000 genomes]
rs72719735	0.90[ASN][1000 genomes]
rs72719738	0.90[ASN][1000 genomes]
rs72719739	0.90[ASN][1000 genomes]
rs72719741	0.90[ASN][1000 genomes]
rs72719743	0.90[ASN][1000 genomes]
rs72719744	0.90[ASN][1000 genomes]
rs72719745	0.85[ASN][1000 genomes]
rs72719746	0.90[ASN][1000 genomes]
rs72719747	0.90[ASN][1000 genomes]
rs72719748	0.90[ASN][1000 genomes]
rs72719750	0.90[ASN][1000 genomes]
rs72719751	0.90[ASN][1000 genomes]
rs72719754	1.00[ASN][1000 genomes]
rs72719757	1.00[ASN][1000 genomes]
rs72719758	1.00[ASN][1000 genomes]
rs72719764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719785	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719791	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73286047	0.83[AFR][1000 genomes]
rs73286048	0.83[AFR][1000 genomes]
rs8004872	0.85[ASN][1000 genomes]
rs8009390	0.83[AFR][1000 genomes]
rs9323543	0.81[AFR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71042000-71066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71051400-71066800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:71061600-71066600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:71062600-71066800	Weak transcription	Pancreas	Pancrea
5	chr14:71063200-71066600	Weak transcription	Colonic Mucosa	Colon
6	chr14:71063200-71066800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:71063200-71066800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:71065600-71066600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:71065600-71066600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:71065600-71066600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:71065600-71066600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:71065600-71066600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:71065600-71066800	Flanking Active TSS	Dnd41	blood
14	chr14:71065600-71068400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:71065800-71066600	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:71065800-71066600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr14:71065800-71066600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:71065800-71066600	Enhancers	Brain Hippocampus Middle	brain
19	chr14:71065800-71066600	Enhancers	Fetal Stomach	stomach
20	chr14:71065800-71066600	Flanking Active TSS	GM12878-XiMat	blood
21	chr14:71065800-71067000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:71065800-71067000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:71066000-71066600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:71066000-71066600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:71066000-71066600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:71066000-71066600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:71066000-71066600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr14:71066000-71066600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:71066000-71066600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr14:71066000-71066600	Enhancers	Fetal Heart	heart
31	chr14:71066000-71066600	Enhancers	Gastric	stomach
32	chr14:71066000-71066600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:71066000-71066600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:71066000-71066600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:71066000-71066600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr14:71066000-71066600	Enhancers	Spleen	Spleen
37	chr14:71066000-71066600	Flanking Active TSS	Hela-S3	cervix
38	chr14:71066000-71066600	Flanking Active TSS	HMEC	breast
39	chr14:71066000-71066600	Flanking Active TSS	NHEK	skin
40	chr14:71066000-71066800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:71066000-71066800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr14:71066000-71066800	Flanking Active TSS	Fetal Brain Male	brain
43	chr14:71066000-71066800	Flanking Active TSS	Fetal Brain Female	brain
44	chr14:71066000-71066800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr14:71066000-71066800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:71066000-71066800	Enhancers	Small Intestine	intestine
47	chr14:71066000-71066800	Enhancers	Stomach Mucosa	stomach
48	chr14:71066000-71067000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:71066000-71067000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:71066000-71067000	Flanking Active TSS	Liver	Liver

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