Variant report

Variant	rs2434218
Chromosome Location	chr5:154163286-154163287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154154220..154157426-chr5:154161456..154164339,3	MCF-7	breast:
2	chr5:154160953..154164560-chr5:154213989..154217454,3	K562	blood:
3	chr5:154135295..154138136-chr5:154163169..154165324,3	MCF-7	breast:
4	chr5:154161718..154166122-chr5:154172267..154174755,4	MCF-7	breast:
5	chr5:154069246..154072134-chr5:154161988..154164384,2	K562	blood:
6	chr1:152014558..152016795-chr5:154161907..154163941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction
ENSG00000170271	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13156669	0.91[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs13164115	0.81[CEU][hapmap];1.00[AFR][1000 genomes]
rs13177143	1.00[AFR][1000 genomes]
rs13178728	1.00[AFR][1000 genomes]
rs13182236	1.00[AFR][1000 genomes]
rs1403559	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2103073	1.00[AFR][1000 genomes]
rs2434217	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2544891	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35838764	1.00[AFR][1000 genomes]
rs6882998	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816735	1.00[AFR][1000 genomes];0.83[ASN][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	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv965536	chr5:154155200-154163441	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2434218	CNOT8	cis	Skin Sun Exposed Lower leg	GTEx
rs2434218	CNOT8	cis	Artery Tibial	GTEx
rs2434218	CNOT8	cis	Adipose Subcutaneous	GTEx
rs2434218	CNOT8	cis	Thyroid	GTEx
rs2434218	CNOT8	cis	Nerve Tibial	GTEx
rs2434218	CNOT8	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154151600-154163400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr5:154151600-154171200	Weak transcription	Fetal Brain Male	brain
3	chr5:154152600-154168200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:154152600-154168400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:154156000-154163400	Weak transcription	Brain Germinal Matrix	brain
6	chr5:154157800-154164200	Enhancers	Liver	Liver
7	chr5:154157800-154168000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:154157800-154168200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:154157800-154168200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:154157800-154168400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:154158000-154163800	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:154158000-154164200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:154158000-154168200	Enhancers	Left Ventricle	heart
14	chr5:154158000-154168400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:154158200-154168200	Enhancers	Spleen	Spleen
16	chr5:154158800-154168200	Enhancers	Pancreas	Pancrea
17	chr5:154159000-154166800	Weak transcription	HUVEC	blood vessel
18	chr5:154159000-154168000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:154159400-154164000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:154159400-154167800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:154159400-154168200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:154159600-154168200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:154159800-154167400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:154159800-154168400	Strong transcription	Dnd41	blood
25	chr5:154160000-154164800	Weak transcription	Hela-S3	cervix
26	chr5:154160200-154163400	Weak transcription	Fetal Thymus	thymus
27	chr5:154160400-154168200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:154160600-154164600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:154160600-154165000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:154160600-154165000	Enhancers	Small Intestine	intestine
31	chr5:154161200-154164000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:154161200-154165200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:154161200-154167600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:154161200-154168000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:154161200-154168000	Enhancers	Stomach Mucosa	stomach
36	chr5:154161200-154168400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:154161200-154168600	Enhancers	Fetal Heart	heart
38	chr5:154161400-154164000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:154161400-154164000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:154161400-154164400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:154161400-154164600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:154161400-154164800	Enhancers	Adipose Nuclei	Adipose
43	chr5:154161400-154165000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:154161400-154165200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:154161400-154165600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:154161400-154166000	Enhancers	Brain Angular Gyrus	brain
47	chr5:154161400-154166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:154161400-154166400	Enhancers	Fetal Intestine Large	intestine
49	chr5:154161400-154166800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:154161400-154167600	Enhancers	H9 Cell Line	embryonic stem cell

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