Variant report

Variant	rs28372883
Chromosome Location	chr8:104032711-104032712
allele	A/G
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	RELA	chr8:104032659-104033576	GM18505	blood:	n/a	chr8:104033119-104033128 chr8:104033119-104033128
2	POLR2A	chr8:104032539-104033851	PFSK-1	brain:	n/a	n/a
3	MAZ	chr8:104032568-104033710	K562	blood:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
4	POLR2A	chr8:104032674-104033818	K562	blood:	n/a	n/a
5	PML	chr8:104032619-104033768	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:104032640-104033811	Raji	blood:	n/a	n/a
7	WRNIP1	chr8:104032344-104033732	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:104032343-104033650	MCF10A-Er-Src	breast:	n/a	n/a
9	TBL1XR1	chr8:104032695-104033589	K562	blood:	n/a	n/a
10	TAF1	chr8:104032619-104033852	MCF-7	breast:	n/a	n/a
11	RUNX3	chr8:104032612-104033819	GM12878	blood:	n/a	n/a
12	FOXM1	chr8:104032700-104033667	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:104032702-104033732	GM19099	blood:	n/a	n/a
14	POLR2A	chr8:104032654-104033757	K562	blood:	n/a	n/a
15	EGR1	chr8:104032711-104033944	HCT-116	colon:	n/a	chr8:104033252-104033263 chr8:104033541-104033554 chr8:104033537-104033559 chr8:104033252-104033266 chr8:104033541-104033554 chr8:104033858-104033868 chr8:104033251-104033265
16	TBP	chr8:104032635-104033531	GM12878	blood:	n/a	n/a
17	MTA3	chr8:104032598-104033703	GM12878	blood:	n/a	n/a
18	EP300	chr8:104032217-104033508	K562	blood:	n/a	chr8:104032823-104032836
19	POLR2A	chr8:104032687-104033773	GM18951	blood:	n/a	n/a
20	POLR2A	chr8:104032209-104033959	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:104032639-104033737	K562	blood:	n/a	n/a
22	MXI1	chr8:104032255-104034435	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr8:104032638-104033902	K562	blood:	n/a	n/a
24	POLR2A	chr8:104032428-104033765	PBDE	blood:	n/a	n/a
25	CBX3	chr8:104032709-104033750	K562	blood:	n/a	n/a
26	EP300	chr8:104032670-104033453	GM12878	blood:	n/a	chr8:104032823-104032836
27	RFX5	chr8:104032378-104033558	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr8:104032711-104033852	HepG2	liver:	n/a	n/a
29	RUNX3	chr8:104032651-104033738	GM12878	blood:	n/a	n/a
30	USF1	chr8:104032703-104033768	A549	lung:	n/a	chr8:104033224-104033240 chr8:104033218-104033234 chr8:104033297-104033310 chr8:104033299-104033308 chr8:104033298-104033309 chr8:104033298-104033307 chr8:104033299-104033308 chr8:104033226-104033242 chr8:104033300-104033309
31	EGR1	chr8:104032640-104033791	MCF-7	breast:	n/a	chr8:104033252-104033263 chr8:104033541-104033554 chr8:104033537-104033559 chr8:104033252-104033266 chr8:104033541-104033554 chr8:104033251-104033265
32	POLR2A	chr8:104032665-104033677	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:104032701-104033625	NB4	blood:	n/a	n/a
34	POLR2A	chr8:104032665-104033584	U87	brain:	n/a	n/a
35	TBP	chr8:104032642-104033552	K562	blood:	n/a	n/a
36	EGR1	chr8:104032691-104033859	HCT-116	colon:	n/a	chr8:104033252-104033263 chr8:104033541-104033554 chr8:104033537-104033559 chr8:104033252-104033266 chr8:104033541-104033554 chr8:104033251-104033265
37	ELF1	chr8:104032700-104033857	MCF-7	breast:	n/a	chr8:104033429-104033440
38	HDAC2	chr8:104032652-104033782	MCF-7	breast:	n/a	chr8:104033647-104033661 chr8:104033655-104033669
39	SIN3AK20	chr8:104032620-104033856	HCT-116	colon:	n/a	n/a
40	TBL1XR1	chr8:104032687-104033543	K562	blood:	n/a	n/a
41	JUND	chr8:104032670-104033744	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr8:104032524-104033860	MCF-7	breast:	n/a	n/a
43	MAX	chr8:104032674-104034002	MCF-7	breast:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
44	POLR2A	chr8:104032325-104033733	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr8:104032396-104033725	GM12891	blood:	n/a	n/a
46	TCF12	chr8:104032678-104033833	A549	lung:	n/a	n/a
47	MXI1	chr8:104032175-104033886	IMR90	lung:	n/a	n/a
48	IRF1	chr8:104032582-104033511	K562	blood:	n/a	chr8:104033192-104033206
49	BHLHE40	chr8:104032698-104033764	K562	blood:	n/a	chr8:104033224-104033240 chr8:104033218-104033234 chr8:104033297-104033310 chr8:104033299-104033308 chr8:104033298-104033307 chr8:104033299-104033308 chr8:104033226-104033242 chr8:104033300-104033309
50	CUX1	chr8:104032411-104033490	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
2	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
3	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
4	chr8:104031977..104033590-chr8:104309490..104311650,2	MCF-7	breast:
5	chr8:104026806..104029489-chr8:104031161..104032899,2	K562	blood:
6	chr8:104027811..104029796-chr8:104031590..104033402,2	MCF-7	breast:
7	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
8	chr8:104026806..104029489-chr8:104031161..104033140,3	K562	blood:
9	chr8:103936608..103938218-chr8:104032062..104033919,2	MCF-7	breast:
10	chr8:103870045..103872985-chr8:104031865..104034556,2	MCF-7	breast:
11	chr8:104032543..104034903-chr8:104061737..104063983,2	MCF-7	breast:
12	chr8:103875337..103875971-chr8:104032293..104033157,2	K562	blood:
13	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
14	chr17:56708428..56709205-chr8:104032656..104033438,2	MCF-7	breast:
15	chr8:104032077..104034821-chr8:104426211..104427812,2	MCF-7	breast:
16	chr17:62222917..62224705-chr8:104031776..104034703,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C1	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000253663	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16869976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16870018	0.96[EUR][1000 genomes]
rs16870033	0.98[EUR][1000 genomes]
rs3018948	0.87[ASN][1000 genomes]
rs3824225	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824228	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486506	0.83[ASN][1000 genomes]
rs488420	0.83[ASN][1000 genomes]
rs60356223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs613121	0.80[ASN][1000 genomes]
rs615348	0.80[ASN][1000 genomes]
rs62525309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525313	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525314	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525315	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62525329	0.94[EUR][1000 genomes]
rs628793	0.83[ASN][1000 genomes]
rs630236	0.83[ASN][1000 genomes]
rs631019	0.83[ASN][1000 genomes]
rs642994	0.81[ASN][1000 genomes]
rs644305	0.83[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104023200-104032800	Weak transcription	Pancreas	Pancrea
2	chr8:104031800-104032800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:104032200-104032800	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr8:104032200-104033000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr8:104032200-104033800	Active TSS	Fetal Heart	heart
6	chr8:104032200-104034000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr8:104032400-104032800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:104032400-104032800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:104032400-104032800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:104032400-104032800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:104032400-104032800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:104032400-104032800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr8:104032400-104032800	Enhancers	Gastric	stomach
14	chr8:104032400-104032800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr8:104032400-104032800	Enhancers	Spleen	Spleen
16	chr8:104032400-104032800	Flanking Active TSS	A549	lung
17	chr8:104032400-104033000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:104032400-104033000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:104032400-104033000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr8:104032400-104033000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:104032400-104033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:104032400-104033000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr8:104032400-104033000	Flanking Active TSS	Dnd41	blood
24	chr8:104032400-104033000	Flanking Active TSS	GM12878-XiMat	blood
25	chr8:104032400-104034000	Active TSS	Brain Hippocampus Middle	brain
26	chr8:104032400-104034000	Active TSS	Rectal Smooth Muscle	rectum
27	chr8:104032600-104032800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:104032600-104032800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:104032600-104032800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:104032600-104032800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:104032600-104032800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:104032600-104032800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:104032600-104032800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:104032600-104032800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:104032600-104032800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:104032600-104032800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:104032600-104032800	Flanking Active TSS	Fetal Brain Female	brain
38	chr8:104032600-104032800	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr8:104032600-104032800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:104032600-104032800	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr8:104032600-104032800	Flanking Active TSS	NHLF	lung
42	chr8:104032600-104033000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:104032600-104033000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:104032600-104033000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:104032600-104033000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr8:104032600-104033000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr8:104032600-104033000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr8:104032600-104033000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr8:104032600-104033000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr8:104032600-104033000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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