Variant report

Variant	rs28685099
Chromosome Location	chr4:78787582-78787583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78783655..78785573-chr4:78787222..78790080,4	MCF-7	breast:
2	chr4:78739526..78741984-chr4:78787017..78789736,2	MCF-7	breast:
3	chr4:78782853..78785738-chr4:78785814..78790538,6	MCF-7	breast:
4	chr4:78786547..78788323-chr4:78797006..78799042,2	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10005531	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10018117	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10019920	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10026176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10027634	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10030568	0.83[EUR][1000 genomes]
rs10049674	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11931686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11942975	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12509847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13131331	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587563	0.86[ASN][1000 genomes]
rs17002804	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28436599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128860	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4328941	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4859512	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4859513	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4859882	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859884	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859890	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6533355	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67814821	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6811439	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6814088	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6816134	0.84[ASN][1000 genomes]
rs6820725	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6825492	0.85[ASN][1000 genomes]
rs6849145	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7436080	0.83[EUR][1000 genomes]
rs7660788	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs924684	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs924685	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9654194	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9994366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9996218	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28685099	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784400-78793600	Weak transcription	Spleen	Spleen
2	chr4:78784600-78790200	Weak transcription	Stomach Mucosa	stomach
3	chr4:78784600-78791000	Weak transcription	Ovary	ovary
4	chr4:78784600-78793600	Weak transcription	Left Ventricle	heart
5	chr4:78784600-78795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:78784600-78801800	Weak transcription	Aorta	Aorta
7	chr4:78784800-78793600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:78784800-78808400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:78784800-78842200	Weak transcription	HSMMtube	muscle
10	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
11	chr4:78785000-78789800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:78785000-78792800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:78785000-78793000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:78785000-78793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:78785000-78793200	Weak transcription	Placenta	Placenta
16	chr4:78785000-78793200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:78785000-78793400	Weak transcription	Brain Germinal Matrix	brain
18	chr4:78785000-78793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:78785000-78793600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:78785000-78793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:78785000-78793600	Weak transcription	Gastric	stomach
22	chr4:78785000-78793600	Weak transcription	Lung	lung
23	chr4:78785000-78793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:78785000-78794400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:78785000-78798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:78785000-78798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:78785000-78798800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:78785000-78801400	Weak transcription	Pancreas	Pancrea
29	chr4:78785000-78801400	Weak transcription	Psoas Muscle	Psoas
30	chr4:78785000-78803000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:78785000-78805800	Weak transcription	Colonic Mucosa	Colon
32	chr4:78785000-78807000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:78785000-78808400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:78785000-78808800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:78785000-78810600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:78785000-78831200	Weak transcription	Brain Angular Gyrus	brain
37	chr4:78785000-78831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:78785000-78841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
40	chr4:78785200-78787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:78785200-78790000	Weak transcription	NH-A	brain
42	chr4:78785200-78793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:78785200-78793000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:78785200-78793000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:78785200-78793200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:78785200-78793200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:78785200-78793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:78785200-78793600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:78785200-78794400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:78785200-78794800	Weak transcription	Colon Smooth Muscle	Colon

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