Variant report

Variant	rs7836143
Chromosome Location	chr8:103550715-103550716
allele	A/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:45990214..45992945-chr8:103550491..103553250,2	MCF-7	breast:
2	chr8:103545241..103546971-chr8:103549394..103552114,2	MCF-7	breast:
3	chr8:103545032..103547830-chr8:103548926..103551199,2	MCF-7	breast:
4	chr8:103540168..103543141-chr8:103550290..103553115,2	MCF-7	breast:
5	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
6	chr8:103549075..103551753-chr8:103552917..103555861,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ODF1-1	chr8:103550612-103550896	NONHSAT128098

No data

Variant related genes	Relation type
ENSG00000252593	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

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	0.87[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]
rs28372594	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496103	0.86[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]
rs919950	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs919951	0.89[AMR][1000 genomes];0.99[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
rs7836143	UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs7836143	LOC730429///UBR5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
2	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
3	chr8:103547800-103550800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:103548000-103550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:103548000-103550800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103548000-103550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:103548000-103550800	Enhancers	Brain Anterior Caudate	brain
8	chr8:103548000-103550800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:103548000-103551000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:103548000-103551000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:103548000-103551000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:103548400-103551400	Weak transcription	Left Ventricle	heart
13	chr8:103548600-103550800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:103548600-103551200	Enhancers	Brain Germinal Matrix	brain
15	chr8:103548800-103551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:103549000-103550800	Enhancers	Right Atrium	heart
17	chr8:103549000-103553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:103549200-103551000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:103549200-103553400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:103549400-103550800	Enhancers	K562	blood
21	chr8:103549600-103551400	Weak transcription	Psoas Muscle	Psoas
22	chr8:103549600-103551600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:103549600-103553200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:103549600-103553400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:103549800-103551600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:103549800-103553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:103550000-103551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:103550000-103552200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:103550200-103550800	Enhancers	NH-A	brain
30	chr8:103550200-103551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:103550200-103551400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:103550200-103551400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:103550200-103551800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:103550200-103552000	Weak transcription	NHLF	lung
35	chr8:103550200-103553400	Weak transcription	Fetal Brain Female	brain
36	chr8:103550200-103553800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:103550400-103551000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:103550400-103551400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:103550400-103551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:103550400-103551600	Weak transcription	NHEK	skin
41	chr8:103550400-103551800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:103550400-103552000	Enhancers	A549	lung
43	chr8:103550400-103552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:103550400-103552200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:103550400-103553600	Weak transcription	HSMMtube	muscle
46	chr8:103550400-103553600	Weak transcription	Osteobl	bone
47	chr8:103550400-103554800	Weak transcription	HSMM	muscle
48	chr8:103550600-103550800	Enhancers	Placenta	Placenta
49	chr8:103550600-103551400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:103550600-103551400	Weak transcription	Fetal Brain Male	brain

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