Variant report

Variant	rs72498838
Chromosome Location	chr4:54214452-54214453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54212699..54214471-chr4:54216075..54218598,2	MCF-7	breast:
2	chr16:2011813..2014003-chr4:54211734..54214519,2	K562	blood:

Variant related genes	Relation type
ENSG00000207405	Chromatin interaction
ENSG00000206811	Chromatin interaction
ENSG00000140988	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10517291	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10517292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942086	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11947322	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11947928	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12499731	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12500564	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12507723	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12512748	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17082549	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17082565	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17082579	0.84[EUR][1000 genomes]
rs17082581	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35784764	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4385131	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864451	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4864452	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864453	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864454	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864747	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864753	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6826467	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6830879	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6854446	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73147378	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73147396	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73149212	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs751265	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7664488	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7687029	0.89[EUR][1000 genomes]
rs9762074	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:54188200-54218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:54188600-54215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:54201200-54220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:54201400-54215600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:54201800-54215800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:54202200-54226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:54206600-54220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:54209200-54215400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:54210400-54225600	Weak transcription	Small Intestine	intestine
14	chr4:54211200-54216000	Weak transcription	Thymus	Thymus
15	chr4:54211400-54219200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:54211600-54219600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:54211600-54220200	Weak transcription	Fetal Stomach	stomach
18	chr4:54211800-54217800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:54212000-54220600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:54212000-54227200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:54212200-54215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:54212200-54220800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:54212400-54217800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:54212600-54219200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:54212800-54219600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:54213000-54214600	Strong transcription	Primary T cells from cord blood	blood
27	chr4:54213200-54214600	Enhancers	Brain Germinal Matrix	brain
28	chr4:54213200-54214800	Strong transcription	GM12878-XiMat	blood
29	chr4:54213200-54215400	Weak transcription	K562	blood
30	chr4:54213200-54220200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:54213400-54215400	Weak transcription	Fetal Intestine Large	intestine
32	chr4:54213400-54217200	Weak transcription	Liver	Liver
33	chr4:54213600-54214800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:54213600-54214800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:54213600-54214800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:54213600-54215600	Weak transcription	Fetal Thymus	thymus
37	chr4:54213600-54216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:54213600-54228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:54213800-54214600	Enhancers	Brain Anterior Caudate	brain
40	chr4:54213800-54218600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:54213800-54230400	Weak transcription	Fetal Kidney	kidney
42	chr4:54214000-54214600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:54214000-54215400	Weak transcription	HSMM	muscle
44	chr4:54214000-54218600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:54214000-54218800	Weak transcription	Adipose Nuclei	Adipose
46	chr4:54214000-54219200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:54214000-54221800	Weak transcription	Ovary	ovary
48	chr4:54214000-54230800	Weak transcription	Aorta	Aorta
49	chr4:54214000-54231200	Weak transcription	Lung	lung
50	chr4:54214200-54215200	Weak transcription	Osteobl	bone

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