Variant report

Variant	rs235353
Chromosome Location	chr21:46188864-46188865
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45896417..45898596-chr21:46188408..46190789,2	MCF-7	breast:
2	chr21:46188637..46191346-chr21:46209977..46212870,2	MCF-7	breast:
3	chr21:46187475..46189831-chr21:46347988..46350104,2	MCF-7	breast:
4	chr21:46184586..46187452-chr21:46187793..46189728,3	MCF-7	breast:
5	chr21:46185632..46187378-chr21:46187744..46189857,2	K562	blood:
6	chr21:46181841..46189587-chr21:46189919..46197097,16	MCF-7	breast:
7	chr21:46187285..46189608-chr21:46193802..46195925,2	K562	blood:
8	chr21:46188583..46191160-chr21:46207285..46209699,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1060564	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11569	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs180317	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs183518	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs184633	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329902	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs235267	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235268	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235269	0.90[ASN][1000 genomes]
rs235270	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235271	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235272	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235275	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235337	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235352	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235358	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235360	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235361	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235369	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838695	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3788134	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs434608	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs657730	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs658637	0.81[ASN][1000 genomes]
rs658657	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs660385	0.85[ASN][1000 genomes]
rs690626	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7280306	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs84188	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs235353	UBE2G2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46182200-46189000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr21:46183600-46190800	Weak transcription	A549	lung
3	chr21:46184600-46189000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr21:46184600-46189200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr21:46184800-46189600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:46185200-46189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr21:46185200-46189600	Weak transcription	NHLF	lung
8	chr21:46185600-46190800	Weak transcription	Brain Anterior Caudate	brain
9	chr21:46185600-46190800	Weak transcription	Hela-S3	cervix
10	chr21:46185800-46189600	Weak transcription	Fetal Intestine Large	intestine
11	chr21:46185800-46192600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
13	chr21:46186000-46189600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:46186000-46189600	Weak transcription	Fetal Lung	lung
15	chr21:46186000-46189600	Weak transcription	Left Ventricle	heart
16	chr21:46186000-46189800	Weak transcription	HSMMtube	muscle
17	chr21:46186000-46190600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:46186000-46190800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr21:46186200-46189600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr21:46186200-46189600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46186200-46189800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:46186200-46190800	Weak transcription	Osteobl	bone
23	chr21:46186200-46199400	Weak transcription	Right Atrium	heart
24	chr21:46186400-46189400	Weak transcription	NH-A	brain
25	chr21:46186400-46189600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:46186400-46189600	Weak transcription	Colonic Mucosa	Colon
27	chr21:46186400-46189800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr21:46186400-46189800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:46186400-46190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr21:46186400-46191000	Weak transcription	K562	blood
31	chr21:46186600-46189600	Weak transcription	Gastric	stomach
32	chr21:46186600-46189800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr21:46186600-46190000	Weak transcription	GM12878-XiMat	blood
34	chr21:46186600-46190800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr21:46186600-46190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:46186800-46189600	Weak transcription	Brain Substantia Nigra	brain
37	chr21:46186800-46189600	Weak transcription	HepG2	liver
38	chr21:46187000-46189600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:46187000-46189600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr21:46187000-46191000	Weak transcription	Brain Angular Gyrus	brain
41	chr21:46187000-46193000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:46187000-46193200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:46187000-46195400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr21:46187200-46189600	Weak transcription	Dnd41	blood
46	chr21:46187200-46190800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr21:46187200-46194600	Weak transcription	NHDF-Ad	bronchial
48	chr21:46187200-46197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:46187400-46189000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr21:46187400-46189000	Weak transcription	Primary monocytes fromperipheralblood	blood

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