Variant report

Variant	rs923765
Chromosome Location	chr8:19563900-19563901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10087018	0.88[EUR][1000 genomes]
rs11986223	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11990161	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs12543757	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs17481235	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs17481249	0.86[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1994790	0.89[EUR][1000 genomes]
rs28680503	0.84[EUR][1000 genomes]
rs34752971	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3735954	0.97[EUR][1000 genomes]
rs3735955	0.91[EUR][1000 genomes]
rs4921665	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs4921666	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs4921668	0.91[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes]
rs4922084	0.86[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs4922086	0.83[CHB][hapmap]
rs4922087	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs4922088	0.86[CEU][hapmap];0.83[CHB][hapmap];0.91[EUR][1000 genomes]
rs4990627	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs6985674	0.86[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.89[EUR][1000 genomes]
rs9987105	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs923765	CNOT7	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19555000-19573200	Weak transcription	Pancreas	Pancrea
3	chr8:19555200-19566000	Weak transcription	Lung	lung
4	chr8:19555200-19567200	Weak transcription	Fetal Brain Male	brain
5	chr8:19555200-19573600	Weak transcription	Fetal Stomach	stomach
6	chr8:19555400-19566000	Weak transcription	Right Ventricle	heart
7	chr8:19557200-19566200	Weak transcription	Hela-S3	cervix
8	chr8:19558200-19565800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:19558600-19564000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:19558600-19565800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:19558600-19570800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:19558600-19573400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:19558800-19565800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:19559200-19571200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:19559200-19573400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:19559200-19573600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:19561600-19564200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:19561800-19565600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19562000-19564200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:19562200-19564000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:19562800-19564200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:19562800-19567400	Enhancers	Primary B cells from cord blood	blood
23	chr8:19563000-19564600	Enhancers	Left Ventricle	heart
24	chr8:19563000-19569400	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:19563200-19564200	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:19563200-19578200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:19563400-19564000	Enhancers	HSMMtube	muscle
28	chr8:19563400-19564200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:19563600-19564000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:19563600-19564000	Flanking Active TSS	HUVEC	blood vessel
31	chr8:19563600-19564600	Enhancers	Brain Anterior Caudate	brain
32	chr8:19563600-19564600	Enhancers	Right Atrium	heart
33	chr8:19563600-19564800	Enhancers	Adipose Nuclei	Adipose
34	chr8:19563800-19564400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:19563800-19564600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:19563800-19564600	Enhancers	Placenta	Placenta
37	chr8:19563800-19565000	Strong transcription	A549	lung

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