Variant report

Variant	rs28578331
Chromosome Location	chr8:48920543-48920544
allele	C/T
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	ELF1	chr8:48920538-48921478	GM12878	blood:	n/a	chr8:48920949-48920960 chr8:48920950-48920959 chr8:48920947-48920960 chr8:48920949-48920960
2	MXI1	chr8:48920270-48921751	IMR90	lung:	n/a	n/a
3	E2F6	chr8:48920237-48921490	K562	blood:	n/a	chr8:48921094-48921104 chr8:48920940-48920949 chr8:48921301-48921310 chr8:48920986-48920996
4	POLR2A	chr8:48919920-48921853	SK-N-MC	brain:	n/a	n/a
5	CREB1	chr8:48920513-48921532	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:48920362-48921656	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr8:48920312-48921816	IMR90	lung:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
8	MYC	chr8:48920503-48921364	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
9	GTF3C2	chr8:48920198-48921250	K562	blood:	n/a	n/a
10	MYC	chr8:48920352-48921568	A549	lung:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
11	POLR2A	chr8:48920490-48921412	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr8:48920386-48921546	MCF-7	breast:	n/a	n/a
13	GATA1	chr8:48920392-48921868	PBDE	blood:	n/a	n/a
14	MYC	chr8:48920432-48921517	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
15	CBX3	chr8:48920321-48920964	K562	blood:	n/a	n/a
16	YY1	chr8:48920543-48921456	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:48920501-48921635	GM12892	blood:	n/a	n/a
18	MAX	chr8:48920521-48921167	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
19	POLR2A	chr8:48920499-48921476	A549	lung:	n/a	n/a
20	POLR2A	chr8:48920506-48921443	MCF-7	breast:	n/a	n/a
21	CEBPB	chr8:48920365-48920997	A549	lung:	n/a	n/a
22	POLR2A	chr8:48920148-48921558	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:48920368-48920756	K562	blood:	n/a	n/a
24	MAX	chr8:48920346-48921584	HepG2	liver:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
25	POLR2A	chr8:48920379-48922670	IMR90	lung:	n/a	n/a
26	POLR2A	chr8:48920334-48921550	PFSK-1	brain:	n/a	n/a
27	CEBPB	chr8:48920274-48921011	A549	lung:	n/a	n/a
28	CREB1	chr8:48920524-48921607	K562	blood:	n/a	n/a
29	CEBPB	chr8:48920277-48920952	MCF-7	breast:	n/a	n/a
30	MAX	chr8:48920296-48921508	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
31	MYC	chr8:48920268-48921502	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
32	MAX	chr8:48920543-48921381	ECC-1	luminal epithelium:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
33	RCOR1	chr8:48920372-48921432	K562	blood:	n/a	n/a
34	CEBPB	chr8:48920420-48920584	K562	blood:	n/a	n/a
35	POLR2A	chr8:48920492-48921334	GM12891	blood:	n/a	n/a
36	POLR2A	chr8:48920534-48921668	GM12892	blood:	n/a	n/a
37	MAX	chr8:48920376-48921401	GM12878	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
38	POLR2A	chr8:48920364-48921503	PFSK-1	brain:	n/a	n/a
39	E2F6	chr8:48920526-48921308	H1-hESC	embryonic stem cell:	n/a	chr8:48921094-48921104 chr8:48920940-48920949 chr8:48920986-48920996
40	GTF3C2	chr8:48920359-48920891	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:48920253-48921791	Hela-S3	cervix:	n/a	n/a
42	YY1	chr8:48920473-48920662	K562	blood:	n/a	n/a
43	HCFC1	chr8:48920314-48921738	Hela-S3	cervix:	n/a	n/a
44	MAX	chr8:48920301-48921448	A549	lung:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
45	POLR2A	chr8:48920207-48921597	Raji	blood:	n/a	n/a
46	USF1	chr8:48920183-48920614	ECC-1	luminal epithelium:	n/a	chr8:48920385-48920396
47	USF1	chr8:48920282-48920559	A549	lung:	n/a	chr8:48920385-48920396
48	CBX3	chr8:48920250-48921766	K562	blood:	n/a	n/a
49	POLR2A	chr8:48920525-48921393	U87	brain:	n/a	n/a
50	MYC	chr8:48920522-48921477	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882

No.	Distal block	Cell Line	Cell type
1	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
2	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
3	chr8:48886822..48888941-chr8:48919839..48922442,3	MCF-7	breast:
4	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
5	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
6	chr15:60770926..60771435-chr8:48920467..48921398,2	Hela-S3	cervix:
7	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:

Variant related genes	Relation type
UBE2V2	TF binding region
ENSG00000245534	Chromatin interaction
ENSG00000104738	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000128915	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10091017	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097508	0.80[AMR][1000 genomes]
rs10097783	0.92[AMR][1000 genomes]
rs10106778	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10481294	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10808897	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958438	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11986191	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11991957	0.83[AMR][1000 genomes]
rs12156246	0.91[AMR][1000 genomes]
rs12334811	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13251871	0.89[AMR][1000 genomes]
rs1551655	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17334535	0.92[EUR][1000 genomes]
rs1894311	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1903082	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28641816	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28702696	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28846382	0.80[AMR][1000 genomes]
rs4618724	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4873266	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873770	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4873771	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4873773	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58108179	0.82[ASN][1000 genomes]
rs6993087	0.80[AMR][1000 genomes]
rs6993292	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72633911	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72633917	0.82[EUR][1000 genomes]
rs72647914	0.84[EUR][1000 genomes]
rs72647916	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72647918	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72647922	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7824066	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8178016	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8178079	0.92[AMR][1000 genomes]
rs8178095	0.89[AMR][1000 genomes]
rs9657054	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv8338	chr8:48916944-48922357	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3426895	chr8:48920299-48922397	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48916600-48920600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:48920200-48920600	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:48920200-48920600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:48920200-48920600	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr8:48920200-48920600	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr8:48920200-48920600	Enhancers	Lung	lung
7	chr8:48920200-48920600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:48920200-48920600	Enhancers	Stomach Mucosa	stomach
9	chr8:48920200-48920600	Enhancers	Spleen	Spleen
10	chr8:48920200-48920600	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:48920200-48920600	Flanking Active TSS	K562	blood
12	chr8:48920200-48920800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr8:48920200-48920800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:48920200-48920800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:48920200-48920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:48920200-48920800	Flanking Active TSS	HepG2	liver
17	chr8:48920200-48921000	Flanking Active TSS	Dnd41	blood
18	chr8:48920200-48921400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:48920200-48921600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:48920200-48921600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr8:48920200-48921600	Active TSS	Brain Angular Gyrus	brain
22	chr8:48920200-48921600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:48920200-48921800	Active TSS	Colon Smooth Muscle	Colon
24	chr8:48920200-48922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:48920200-48922000	Active TSS	Brain Hippocampus Middle	brain
26	chr8:48920200-48922000	Active TSS	Duodenum Mucosa	Duodenum
27	chr8:48920200-48922000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:48920200-48922000	Active TSS	Hela-S3	cervix
29	chr8:48920200-48922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:48920200-48922200	Active TSS	Rectal Smooth Muscle	rectum
31	chr8:48920200-48922200	Active TSS	Stomach Smooth Muscle	stomach
32	chr8:48920200-48922200	Active TSS	A549	lung
33	chr8:48920200-48922400	Active TSS	Brain Germinal Matrix	brain
34	chr8:48920400-48920600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:48920400-48920600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48920400-48920600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
37	chr8:48920400-48920600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:48920400-48920600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:48920400-48920600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:48920400-48920600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr8:48920400-48920600	Enhancers	Fetal Heart	heart
42	chr8:48920400-48920600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr8:48920400-48920600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr8:48920400-48920600	Enhancers	HSMMtube	muscle
45	chr8:48920400-48920600	Enhancers	HUVEC	blood vessel
46	chr8:48920400-48920800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:48920400-48920800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:48920400-48920800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr8:48920400-48920800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr8:48920400-48920800	Flanking Active TSS	Primary B cells from peripheral blood	blood

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