Variant report

Variant	rs72714286
Chromosome Location	chr8:130547841-130547842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130315423..130316288-chr8:130547692..130548622,3	MCF-7	breast:
2	chr8:130315270..130316725-chr8:130547696..130548663,11	MCF-7	breast:
3	chr8:130542173..130544704-chr8:130545389..130548489,3	K562	blood:
4	chr8:130547187..130549889-chr8:130563626..130566277,3	K562	blood:
5	chr8:128747254..128749226-chr8:130546738..130548989,2	MCF-7	breast:
6	chr8:130546472..130548166-chr8:130548842..130551608,2	MCF-7	breast:
7	chr8:129871293..129871865-chr8:130547381..130548343,2	MCF-7	breast:
8	chr8:130301513..130304435-chr8:130546554..130548650,2	K562	blood:
9	chr8:130547484..130550875-chr8:130551636..130555731,6	K562	blood:
10	chr8:130462678..130464260-chr8:130546680..130548595,2	MCF-7	breast:
11	chr8:128877443..128879412-chr8:130546084..130548123,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222755	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505541	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10505542	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774619	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786259	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2196074	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35574031	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66791054	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714284	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72714290	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812646	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130541600-130549600	Weak transcription	Right Atrium	heart
2	chr8:130544400-130548600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:130546200-130551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:130546600-130548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:130546600-130549200	Enhancers	Fetal Thymus	thymus
6	chr8:130546600-130551000	Enhancers	Dnd41	blood
7	chr8:130547200-130549000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:130547200-130550000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:130547200-130551800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:130547400-130548000	Enhancers	Fetal Brain Male	brain
11	chr8:130547400-130548000	Enhancers	Fetal Brain Female	brain
12	chr8:130547400-130548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:130547400-130548600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:130547400-130548800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:130547400-130548800	Enhancers	Fetal Lung	lung
16	chr8:130547400-130549000	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:130547400-130549000	Enhancers	Fetal Stomach	stomach
18	chr8:130547400-130550600	Enhancers	GM12878-XiMat	blood
19	chr8:130547400-130550800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:130547400-130550800	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:130547400-130555600	Genic enhancers	K562	blood
22	chr8:130547600-130548000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:130547600-130548200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:130547600-130548200	Enhancers	Brain Hippocampus Middle	brain
25	chr8:130547600-130548200	Enhancers	NHDF-Ad	bronchial
26	chr8:130547600-130548600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:130547600-130548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:130547600-130548600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:130547600-130548600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:130547600-130548600	Enhancers	Osteobl	bone
31	chr8:130547600-130548800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:130547600-130548800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:130547600-130548800	Enhancers	A549	lung
34	chr8:130547600-130549400	Enhancers	Colon Smooth Muscle	Colon
35	chr8:130547600-130551800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:130547800-130548200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:130547800-130548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:130547800-130548200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:130547800-130548200	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:130547800-130548200	Enhancers	NH-A	brain
41	chr8:130547800-130548200	Enhancers	NHLF	lung
42	chr8:130547800-130548400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:130547800-130548400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:130547800-130548400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:130547800-130548400	Enhancers	Fetal Heart	heart
46	chr8:130547800-130548400	Enhancers	Ovary	ovary
47	chr8:130547800-130548400	Enhancers	Thymus	Thymus
48	chr8:130547800-130548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:130547800-130548600	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:130547800-130548600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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