Variant report

Variant	rs2358086
Chromosome Location	chr2:174043844-174043845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174042344..174044769-chr2:174046655..174049116,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7560960	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2358086	UBE2A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:174026600-174048800	Weak transcription	Liver	Liver
7	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
8	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
11	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:174032400-174048800	Weak transcription	Dnd41	blood
13	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
15	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:174037400-174047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:174037400-174048800	Weak transcription	NHEK	skin
20	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:174037800-174046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:174038200-174049000	Weak transcription	Left Ventricle	heart
23	chr2:174040400-174046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:174040600-174045800	Weak transcription	A549	lung
25	chr2:174043400-174044800	Weak transcription	Primary hematopoietic stem cells	blood

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