Variant report

Variant	rs908079
Chromosome Location	chr2:182238650-182238651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6705323	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6724378	0.81[AFR][1000 genomes]
rs6737765	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs908079	UBE2E3	cis	lymphoblastoid	seeQTL
rs908079	LOC100130691	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182235600-182240600	Enhancers	HSMMtube	muscle
2	chr2:182236000-182238800	Enhancers	NHDF-Ad	bronchial
3	chr2:182236000-182239000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:182236600-182239800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:182236800-182241200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:182237000-182239400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:182237000-182239400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:182237000-182239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:182237400-182239400	Weak transcription	GM12878-XiMat	blood
10	chr2:182237600-182239400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:182237600-182239600	Weak transcription	Fetal Brain Male	brain
12	chr2:182237600-182239800	Weak transcription	Adipose Nuclei	Adipose
13	chr2:182237600-182248400	Weak transcription	Primary T cells from cord blood	blood
14	chr2:182237800-182238800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:182237800-182239600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:182237800-182243400	Weak transcription	Thymus	Thymus
17	chr2:182237800-182249600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:182238000-182239600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:182238000-182239600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:182238000-182241000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:182238200-182239400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:182238200-182239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:182238400-182239400	Weak transcription	Fetal Stomach	stomach
25	chr2:182238400-182239400	Weak transcription	Fetal Thymus	thymus
26	chr2:182238400-182239600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:182238400-182239800	Weak transcription	HSMM	muscle
28	chr2:182238400-182241000	Weak transcription	Dnd41	blood
29	chr2:182238600-182239600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:182238600-182239800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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