Variant report

Variant	rs6816134
Chromosome Location	chr4:78715264-78715265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78714906..78717368-chr4:78741847..78743752,2	K562	blood:
2	chr4:78710108..78712213-chr4:78713271..78715270,2	K562	blood:
3	chr4:78714074..78716537-chr4:78722174..78724002,2	K562	blood:
4	chr4:78708609..78711608-chr4:78711846..78715407,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10005935	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10018117	0.85[ASN][1000 genomes]
rs10026176	0.80[ASN][1000 genomes]
rs10027634	0.80[ASN][1000 genomes]
rs11931686	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11942975	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12509847	0.81[AFR][1000 genomes]
rs13131331	0.80[ASN][1000 genomes]
rs1587563	0.99[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17002804	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1809919	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28436599	0.82[ASN][1000 genomes]
rs28685099	0.84[ASN][1000 genomes]
rs4328941	0.80[ASN][1000 genomes]
rs4859882	0.85[ASN][1000 genomes]
rs4859884	0.85[ASN][1000 genomes]
rs6533225	0.85[ASN][1000 genomes]
rs67814821	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6811439	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6825492	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6835993	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6849145	0.80[ASN][1000 genomes]
rs7660788	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7682450	0.80[AFR][1000 genomes]
rs7698009	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9654194	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6816134	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
2	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
3	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
4	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
6	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:78698600-78717400	Weak transcription	Right Ventricle	heart
8	chr4:78698600-78720200	Weak transcription	Dnd41	blood
9	chr4:78698800-78717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:78699200-78716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:78701600-78716600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:78701600-78721400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:78703600-78718000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:78704800-78716600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:78704800-78716600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:78704800-78722200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:78705800-78720000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:78706000-78717600	Weak transcription	Right Atrium	heart
19	chr4:78706200-78719800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:78707000-78716600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:78707400-78720200	Weak transcription	Gastric	stomach
22	chr4:78707600-78717800	Weak transcription	Esophagus	oesophagus
23	chr4:78708000-78716400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:78709200-78721400	Weak transcription	Brain Substantia Nigra	brain
25	chr4:78710000-78715600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:78710200-78722000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:78710400-78716000	Enhancers	Primary T cells from cord blood	blood
28	chr4:78710600-78716600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:78711000-78717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:78711000-78718000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:78711000-78722200	Weak transcription	Ovary	ovary
32	chr4:78711400-78716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:78711400-78722000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:78711600-78721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:78711600-78722200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:78711800-78721800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:78712000-78718000	Weak transcription	NHEK	skin
38	chr4:78712800-78722000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:78713000-78716000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:78713200-78716200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:78713600-78715400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:78713600-78721600	Weak transcription	HUVEC	blood vessel
43	chr4:78713800-78715400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:78714200-78720200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:78714200-78721200	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:78714200-78721600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:78714600-78716800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:78714800-78716400	Weak transcription	Left Ventricle	heart
49	chr4:78714800-78716600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:78714800-78716600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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