Variant report

Variant	rs6866448
Chromosome Location	chr5:154238970-154238971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:154238689-154239474	HL-60	blood:	n/a	n/a
2	MXI1	chr5:154236415-154240199	IMR90	lung:	n/a	chr5:154237410-154237425 chr5:154237408-154237423
3	POLR2A	chr5:154236902-154239366	GM19099	blood:	n/a	n/a
4	BCLAF1	chr5:154238919-154239475	GM12878	blood:	n/a	n/a
5	SPI1	chr5:154238844-154239370	GM12891	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181
6	BHLHE40	chr5:154238556-154239311	K562	blood:	n/a	n/a
7	POLR2A	chr5:154236365-154239243	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr5:154236755-154239440	GM18505	blood:	n/a	n/a
9	POLR2A	chr5:154236780-154239177	GM12892	blood:	n/a	n/a
10	UBTF	chr5:154236725-154239374	K562	blood:	n/a	n/a
11	SIN3A	chr5:154238935-154239414	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:154236697-154239337	Raji	blood:	n/a	n/a
13	MXI1	chr5:154236687-154239470	GM12878	blood:	n/a	chr5:154237410-154237425 chr5:154237408-154237423
14	RUNX3	chr5:154238837-154239280	GM12878	blood:	n/a	n/a
15	SPI1	chr5:154238968-154239398	GM12891	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181
16	POLR2A	chr5:154236799-154239343	NB4	blood:	n/a	n/a
17	E2F4	chr5:154238583-154239239	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr5:154238961-154239309	K562	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181
19	POLR2A	chr5:154236656-154239951	GM12891	blood:	n/a	n/a
20	MAZ	chr5:154236459-154240485	IMR90	lung:	n/a	chr5:154237003-154237012 chr5:154237410-154237419 chr5:154237666-154237676
21	POLR2A	chr5:154238958-154239126	K562	blood:	n/a	n/a
22	ZNF143	chr5:154236889-154239285	K562	blood:	n/a	n/a
23	TCF7L2	chr5:154236481-154239255	Hela-S3	cervix:	n/a	chr5:154238363-154238377
24	MTA3	chr5:154236481-154239350	GM12878	blood:	n/a	n/a
25	WRNIP1	chr5:154238635-154239934	GM12878	blood:	n/a	n/a
26	ZNF263	chr5:154236786-154240135	HEK293-T-REx	kidney:	n/a	chr5:154238768-154238777 chr5:154238028-154238037 chr5:154238847-154238856
27	POLR2A	chr5:154236715-154240314	IMR90	lung:	n/a	n/a
28	POLR2A	chr5:154236682-154239046	Hela-S3	cervix:	n/a	n/a
29	SPI1	chr5:154238871-154239341	HL-60	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181
30	MYC	chr5:154238924-154239377	NB4	blood:	n/a	n/a
31	POLR2A	chr5:154236643-154239849	PBDE	blood:	n/a	n/a
32	POLR2A	chr5:154236531-154239542	K562	blood:	n/a	n/a
33	SPI1	chr5:154238951-154239352	GM12878	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181
34	POLR2A	chr5:154236718-154239109	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr5:154236471-154240208	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:154236770-154239066	GM12878	blood:	n/a	n/a
37	MYC	chr5:154236633-154239270	K562	blood:	n/a	chr5:154237003-154237012 chr5:154237410-154237419 chr5:154237666-154237676
38	RCOR1	chr5:154236599-154239462	K562	blood:	n/a	n/a
39	HCFC1	chr5:154236498-154239568	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:154236598-154239389	MCF10A-Er-Src	breast:	n/a	n/a
41	BRCA1	chr5:154236717-154238990	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:154236928-154239168	GM12878	blood:	n/a	n/a
43	MAX	chr5:154236699-154239399	NB4	blood:	n/a	chr5:154237003-154237012 chr5:154237410-154237419 chr5:154237666-154237676
44	MXI1	chr5:154236273-154239987	SK-N-SH	brain:	n/a	chr5:154237410-154237425 chr5:154237408-154237423
45	PML	chr5:154236710-154239438	GM12878	blood:	n/a	chr5:154238450-154238458
46	TEAD4	chr5:154238404-154239334	K562	blood:	n/a	n/a
47	TBL1XR1	chr5:154236909-154239111	K562	blood:	n/a	n/a
48	POLR2A	chr5:154238897-154239099	GM12878	blood:	n/a	n/a
49	CHD1	chr5:154238514-154239365	GM12878	blood:	n/a	n/a
50	SPI1	chr5:154238703-154239611	GM12878	blood:	n/a	chr5:154239115-154239128 chr5:154239169-154239182 chr5:154239168-154239181

No.	Distal block	Cell Line	Cell type
1	chr5:154212721..154214972-chr5:154234901..154239444,4	K562	blood:
2	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
3	chr17:57921528..57925294-chr5:154236694..154239255,3	MCF-7	breast:
4	chr5:154228281..154231986-chr5:154234217..154239374,12	MCF-7	breast:
5	chr5:154237411..154239680-chr5:154315591..154318152,3	MCF-7	breast:
6	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
7	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:
8	chr5:154182822..154185758-chr5:154236986..154239294,2	MCF-7	breast:
9	chr5:154215310..154217666-chr5:154238733..154240516,2	K562	blood:
10	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
11	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
12	chr5:154224707..154230790-chr5:154235604..154239293,10	K562	blood:
13	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
14	chr5:154235585..154240256-chr5:154317008..154321464,8	K562	blood:
15	chr5:154205913..154219158-chr5:154234172..154242635,38	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT8-2	chr5:154238913-154238999	NONHSAT104722
2	lnc-CNOT8-2	chr5:154238965-154239056	NONHSAT104721

Variant related genes	Relation type
FAXDC2	TF binding region
CNOT8	TF binding region
ENSG00000082515	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000263361	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000170271	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11167701	1.00[AMR][1000 genomes]
rs35562111	1.00[AMR][1000 genomes]
rs7704534	1.00[AMR][1000 genomes]
rs7715619	1.00[AMR][1000 genomes]
rs7721346	1.00[AMR][1000 genomes]
rs7722219	1.00[AMR][1000 genomes]
rs7731757	1.00[AMR][1000 genomes]
rs7733953	1.00[AMR][1000 genomes]
rs9784630	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154236200-154240600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:154236400-154239000	Active TSS	Brain Anterior Caudate	brain
3	chr5:154236400-154239000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:154236400-154239400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:154236400-154239400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:154236400-154239400	Active TSS	Brain Substantia Nigra	brain
7	chr5:154236400-154239400	Active TSS	HSMMtube	muscle
8	chr5:154236400-154239600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr5:154236400-154239600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:154236400-154239600	Active TSS	NHLF	lung
11	chr5:154236600-154239200	Active TSS	Psoas Muscle	Psoas
12	chr5:154236600-154239200	Active TSS	Thymus	Thymus
13	chr5:154236600-154239400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:154236600-154239600	Active TSS	Placenta Amnion	Placenta Amnion
15	chr5:154236600-154239800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:154236600-154239800	Active TSS	Left Ventricle	heart
17	chr5:154236600-154239800	Active TSS	Ovary	ovary
18	chr5:154236600-154239800	Active TSS	Right Ventricle	heart
19	chr5:154236600-154240400	Active TSS	Lung	lung
20	chr5:154236600-154240600	Active TSS	Aorta	Aorta
21	chr5:154236800-154239000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:154236800-154239000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr5:154236800-154239000	Active TSS	Brain Angular Gyrus	brain
24	chr5:154236800-154239000	Active TSS	Brain Hippocampus Middle	brain
25	chr5:154236800-154239000	Active TSS	Colon Smooth Muscle	Colon
26	chr5:154236800-154239000	Active TSS	Duodenum Mucosa	Duodenum
27	chr5:154236800-154239000	Active TSS	Fetal Heart	heart
28	chr5:154236800-154239000	Active TSS	Rectal Smooth Muscle	rectum
29	chr5:154236800-154239200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:154236800-154239200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:154236800-154239200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:154236800-154239200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr5:154236800-154239200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:154236800-154239200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:154236800-154239200	Active TSS	Brain Cingulate Gyrus	brain
36	chr5:154236800-154239200	Active TSS	Gastric	stomach
37	chr5:154236800-154239400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:154236800-154239400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:154236800-154239400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:154236800-154239400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:154236800-154239400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:154236800-154239400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:154236800-154239400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:154236800-154239400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:154236800-154239400	Active TSS	Fetal Kidney	kidney
46	chr5:154236800-154239400	Active TSS	HSMM	muscle
47	chr5:154236800-154239600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:154236800-154239600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:154236800-154239600	Active TSS	Pancreas	Pancrea
50	chr5:154236800-154239600	Active TSS	NHDF-Ad	bronchial

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