Variant report

Variant	rs28372594
Chromosome Location	chr8:103552153-103552154
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	chr20:45990214..45992945-chr8:103550491..103553250,2	MCF-7	breast:
2	chr8:103540168..103543141-chr8:103550290..103553115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088534	0.82[ASN][1000 genomes]
rs10095950	0.87[ASN][1000 genomes]
rs10096810	0.87[ASN][1000 genomes]
rs10103471	1.00[ASN][1000 genomes]
rs10104124	0.87[ASN][1000 genomes]
rs13250010	0.82[ASN][1000 genomes]
rs13251724	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13265183	0.87[ASN][1000 genomes]
rs1347318	0.87[ASN][1000 genomes]
rs1347319	0.82[ASN][1000 genomes]
rs1347320	0.81[ASN][1000 genomes]
rs1347321	0.82[ASN][1000 genomes]
rs2033561	0.87[ASN][1000 genomes]
rs2033562	0.82[ASN][1000 genomes]
rs2436910	0.80[EUR][1000 genomes]
rs28496103	0.84[AFR][1000 genomes]
rs4734059	0.97[ASN][1000 genomes]
rs4734636	0.87[ASN][1000 genomes]
rs4734637	0.84[ASN][1000 genomes]
rs4734638	1.00[ASN][1000 genomes]
rs7823812	1.00[ASN][1000 genomes]
rs7836143	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919950	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs919951	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28372594	UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs28372594	LOC730429///UBR5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
2	chr8:103549000-103553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:103549200-103553400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:103549600-103553200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:103549600-103553400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:103549800-103553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:103550000-103552200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:103550200-103553400	Weak transcription	Fetal Brain Female	brain
9	chr8:103550200-103553800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:103550400-103552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:103550400-103552200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:103550400-103553600	Weak transcription	HSMMtube	muscle
13	chr8:103550400-103553600	Weak transcription	Osteobl	bone
14	chr8:103550400-103554800	Weak transcription	HSMM	muscle
15	chr8:103550600-103552200	Enhancers	Hela-S3	cervix
16	chr8:103550600-103553200	Weak transcription	GM12878-XiMat	blood
17	chr8:103550600-103553400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:103550600-103553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103550600-103553400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:103550600-103554000	Weak transcription	Fetal Thymus	thymus
21	chr8:103550800-103553200	Weak transcription	K562	blood
22	chr8:103550800-103553800	Weak transcription	NH-A	brain
23	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
24	chr8:103551000-103553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103551000-103553600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:103551000-103556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:103551200-103556400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:103551400-103553200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:103551400-103553200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:103551400-103553600	Enhancers	Psoas Muscle	Psoas
31	chr8:103551400-103553800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:103551600-103553600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:103551600-103554000	Weak transcription	Fetal Brain Male	brain
34	chr8:103551600-103556600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:103551800-103552400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:103551800-103553400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:103551800-103553400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:103551800-103553400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:103552000-103552200	Enhancers	NHLF	lung
40	chr8:103552000-103552400	Weak transcription	Left Ventricle	heart
41	chr8:103552000-103553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:103552000-103553200	Weak transcription	A549	lung
43	chr8:103552000-103553400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:103552000-103556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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