Variant report

Variant	rs13048108
Chromosome Location	chr21:46183642-46183643
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46183112..46184755-chr21:46220722..46222780,2	MCF-7	breast:
2	chr21:46179049..46181876-chr21:46183341..46186313,2	K562	blood:
3	chr21:46183507..46185019-chr21:46346886..46349723,2	MCF-7	breast:
4	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:
5	chr21:46179049..46181876-chr21:46183341..46186313,3	K562	blood:
6	chr21:46182776..46184894-chr21:46189262..46192289,3	K562	blood:
7	chr21:46181841..46189587-chr21:46189919..46197097,16	MCF-7	breast:
8	chr21:46168183..46170005-chr21:46182866..46185024,2	MCF-7	breast:
9	chr21:46171917..46177806-chr21:46181342..46188371,13	MCF-7	breast:
10	chr21:46182055..46185052-chr21:46201680..46204266,2	MCF-7	breast:
11	chr21:46181402..46184380-chr21:46359332..46361437,2	K562	blood:
12	chr21:46171125..46175584-chr21:46182573..46186541,7	MCF-7	breast:
13	chr21:46183165..46184854-chr21:46185530..46187850,2	K562	blood:
14	chr21:46181840..46185418-chr21:46198665..46202269,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183250	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs434608	0.80[EUR][1000 genomes]
rs657730	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs658657	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7280306	0.80[EUR][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
rs13048108	UBE2G2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46179600-46184600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:46180800-46184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46181200-46188000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:46181600-46184800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:46181600-46185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr21:46181800-46184400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46181800-46184400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr21:46181800-46185000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr21:46181800-46185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:46181800-46188000	Weak transcription	Fetal Intestine Small	intestine
12	chr21:46181800-46188400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:46182000-46183800	Weak transcription	Esophagus	oesophagus
14	chr21:46182000-46184600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr21:46182000-46184600	Weak transcription	K562	blood
16	chr21:46182000-46186400	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:46182200-46185000	Weak transcription	Fetal Intestine Large	intestine
18	chr21:46182200-46189000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr21:46182400-46187000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:46182600-46184000	Enhancers	Fetal Muscle Trunk	muscle
21	chr21:46182600-46188600	Weak transcription	Liver	Liver
22	chr21:46183000-46183800	Enhancers	Duodenum Mucosa	Duodenum
23	chr21:46183000-46184400	Enhancers	HepG2	liver
24	chr21:46183400-46183800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:46183400-46183800	Enhancers	Gastric	stomach
26	chr21:46183400-46183800	Active TSS	Spleen	Spleen
27	chr21:46183400-46184200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:46183400-46184200	Enhancers	Stomach Mucosa	stomach
29	chr21:46183400-46184800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46183400-46184800	Enhancers	HMEC	breast
31	chr21:46183400-46185600	Weak transcription	Fetal Lung	lung
32	chr21:46183600-46183800	Enhancers	Pancreas	Pancrea
33	chr21:46183600-46184600	Weak transcription	Right Ventricle	heart
34	chr21:46183600-46184800	Weak transcription	Fetal Thymus	thymus
35	chr21:46183600-46190800	Weak transcription	A549	lung

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