Variant report

Variant	rs828861
Chromosome Location	chr2:74409028-74409029
allele	C/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	NFYB	chr2:74408992-74409226	GM12878	blood:	n/a	n/a
2	NFIC	chr2:74408444-74409397	GM12878	blood:	n/a	n/a
3	SPI1	chr2:74408888-74409202	K562	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053
4	EBF1	chr2:74408855-74409266	GM12878	blood:	n/a	n/a
5	SPI1	chr2:74408807-74409238	GM12878	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053
6	RXRA	chr2:74408797-74409102	GM12878	blood:	n/a	n/a
7	STAT5A	chr2:74408817-74409285	GM12878	blood:	n/a	chr2:74409066-74409074 chr2:74409192-74409204
8	JUND	chr2:74408803-74409185	K562	blood:	n/a	chr2:74408805-74408817
9	E2F6	chr2:74408823-74409030	K562	blood:	n/a	n/a
10	CEBPB	chr2:74408779-74409175	K562	blood:	n/a	chr2:74409119-74409130
11	PML	chr2:74408673-74409393	GM12878	blood:	n/a	n/a
12	FOXM1	chr2:74408651-74409326	GM12878	blood:	n/a	n/a
13	SPI1	chr2:74408762-74409255	HL-60	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053
14	WRNIP1	chr2:74408855-74409192	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:74408842-74409276	HL-60	blood:	n/a	n/a
16	MAZ	chr2:74408801-74409235	K562	blood:	n/a	n/a
17	SPI1	chr2:74408877-74409113	GM12878	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053
18	TCF3	chr2:74408807-74409129	GM12878	blood:	n/a	n/a
19	IRF4	chr2:74408801-74409287	GM12878	blood:	n/a	n/a
20	ELF1	chr2:74408780-74409268	GM12878	blood:	n/a	n/a
21	STAT5A	chr2:74408780-74409317	GM12878	blood:	n/a	chr2:74409294-74409302 chr2:74409066-74409074 chr2:74409192-74409204
22	BHLHE40	chr2:74408888-74409132	K562	blood:	n/a	n/a
23	POLR2A	chr2:74408645-74409366	HL-60	blood:	n/a	n/a
24	FOXM1	chr2:74408725-74409369	GM12878	blood:	n/a	n/a
25	CEBPB	chr2:74408713-74409323	GM12878	blood:	n/a	chr2:74409119-74409130
26	MTA3	chr2:74408594-74409418	GM12878	blood:	n/a	n/a
27	ARID3A	chr2:74408759-74409194	K562	blood:	n/a	n/a
28	NFATC1	chr2:74408807-74409364	GM12878	blood:	n/a	n/a
29	IRF1	chr2:74408816-74409181	K562	blood:	n/a	n/a
30	BATF	chr2:74408862-74409259	GM12878	blood:	n/a	n/a
31	EP300	chr2:74408848-74409232	GM12878	blood:	n/a	n/a
32	NFIC	chr2:74408762-74409405	GM12878	blood:	n/a	n/a
33	MEF2C	chr2:74408767-74409270	GM12878	blood:	n/a	n/a
34	MYC	chr2:74408838-74409119	K562	blood:	n/a	n/a
35	MAX	chr2:74408868-74409214	GM12878	blood:	n/a	n/a
36	IKZF1	chr2:74408646-74409307	GM12878	blood:	n/a	n/a
37	BCLAF1	chr2:74408726-74409325	GM12878	blood:	n/a	n/a
38	CHD1	chr2:74408703-74409218	GM12878	blood:	n/a	n/a
39	SPI1	chr2:74408789-74409177	GM12891	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053
40	REST	chr2:74408913-74409132	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr2:74408768-74409332	GM12878	blood:	n/a	n/a
42	TEAD4	chr2:74408744-74409202	K562	blood:	n/a	n/a
43	BCL3	chr2:74408832-74409263	GM12878	blood:	n/a	n/a
44	MAFF	chr2:74408844-74409213	K562	blood:	n/a	n/a
45	MTA3	chr2:74408732-74409247	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:74408790-74409189	GM12892	blood:	n/a	n/a
47	TCF12	chr2:74408819-74409169	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:74408714-74409215	GM12892	blood:	n/a	n/a
49	MYC	chr2:74408798-74409194	NB4	blood:	n/a	n/a
50	SPI1	chr2:74408777-74409266	GM12891	blood:	n/a	chr2:74409043-74409056 chr2:74409043-74409056 chr2:74409042-74409055 chr2:74409044-74409053

No.	Distal block	Cell Line	Cell type
1	chr2:74373097..74376000-chr2:74408992..74411141,2	K562	blood:
2	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
3	chr2:74345913..74348944-chr2:74407962..74411095,3	K562	blood:
4	chr2:74405353..74407488-chr2:74407516..74409638,2	MCF-7	breast:

Variant related genes	Relation type
MOB1A	TF binding region
ENSG00000225439	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000114978	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1056528	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095966	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1095967	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469365	0.86[EUR][1000 genomes]
rs1667600	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667610	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667627	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108163	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108165	0.86[EUR][1000 genomes]
rs4630794	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702465	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828852	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828860	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828874	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs828875	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828887	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828891	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828893	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844169	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs860455	0.86[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs828861	MOBK1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74406600-74412400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:74406600-74412600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:74406600-74414800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:74406800-74409400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:74407200-74409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:74407200-74415200	Weak transcription	Placenta	Placenta
7	chr2:74408000-74409600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:74408200-74409200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:74408200-74409400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:74408200-74409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:74408200-74409800	Enhancers	Fetal Thymus	thymus
12	chr2:74408400-74409600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:74408600-74409200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:74408600-74409200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:74408600-74409200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:74408600-74409200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:74408600-74409200	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:74408600-74409200	Flanking Active TSS	K562	blood
19	chr2:74408600-74409400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr2:74408600-74409400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:74408800-74409200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:74408800-74409200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:74408800-74409200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:74408800-74409200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:74408800-74409200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:74408800-74409200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:74408800-74409200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:74408800-74409200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:74408800-74409200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:74408800-74409200	Flanking Active TSS	HepG2	liver
31	chr2:74408800-74409400	Enhancers	Fetal Brain Male	brain
32	chr2:74408800-74409600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:74408800-74409600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:74409000-74409200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:74409000-74409200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:74409000-74409200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:74409000-74409200	Enhancers	Fetal Brain Female	brain
38	chr2:74409000-74409200	Enhancers	A549	lung
39	chr2:74409000-74409200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr2:74409000-74409600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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