Variant report

Variant	rs3735711
Chromosome Location	chr8:102589939-102589940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102589864..102591664-chr8:102607587..102610544,2	MCF-7	breast:
2	chr8:102582322..102584576-chr8:102588630..102591641,3	MCF-7	breast:
3	chr8:102586663..102588864-chr8:102589452..102591832,2	MCF-7	breast:
4	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
5	chr8:102560377..102562101-chr8:102589178..102590736,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16867839	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1949875	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62519112	0.88[EUR][1000 genomes]
rs62519114	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3735711	UBR5	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102582200-102592400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:102583800-102596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:102585200-102590400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:102585600-102595800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:102585800-102592200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:102587000-102590000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:102587000-102590200	Weak transcription	Liver	Liver
9	chr8:102587000-102590200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:102587000-102594600	Weak transcription	Fetal Stomach	stomach
11	chr8:102587000-102597000	Weak transcription	Colonic Mucosa	Colon
12	chr8:102587200-102590400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:102587400-102597000	Weak transcription	Lung	lung
14	chr8:102588200-102590800	Enhancers	Ovary	ovary
15	chr8:102588400-102590200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:102588400-102590400	Enhancers	Fetal Brain Male	brain
17	chr8:102588400-102594000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:102588600-102590200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:102588600-102595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:102588800-102590400	Weak transcription	Small Intestine	intestine
21	chr8:102588800-102595800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:102589000-102590200	Weak transcription	Stomach Mucosa	stomach
23	chr8:102589000-102591000	Strong transcription	Fetal Intestine Small	intestine
24	chr8:102589000-102595800	Strong transcription	NHEK	skin
25	chr8:102589200-102590200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:102589200-102591200	Enhancers	Colon Smooth Muscle	Colon
27	chr8:102589200-102599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:102589400-102594000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr8:102589400-102594600	Strong transcription	Placenta	Placenta
30	chr8:102589600-102590000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:102589600-102590000	Enhancers	Fetal Heart	heart
32	chr8:102589600-102590200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:102589600-102590200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:102589600-102590400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr8:102589600-102590400	Genic enhancers	Gastric	stomach
36	chr8:102589600-102590400	Genic enhancers	Pancreas	Pancrea
37	chr8:102589600-102590600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:102589600-102590600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:102589600-102590600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr8:102589600-102590600	Genic enhancers	Esophagus	oesophagus
41	chr8:102589600-102590600	Enhancers	Fetal Muscle Leg	muscle
42	chr8:102589600-102590600	Enhancers	Left Ventricle	heart
43	chr8:102589600-102590600	Enhancers	Right Atrium	heart
44	chr8:102589600-102590600	Enhancers	Right Ventricle	heart
45	chr8:102589600-102590800	Enhancers	Psoas Muscle	Psoas
46	chr8:102589600-102590800	Strong transcription	HMEC	breast
47	chr8:102589600-102591000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:102589600-102593000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr8:102589600-102599800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:102589800-102590000	Strong transcription	Rectal Mucosa Donor 29	rectum

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