Variant report

Variant	rs7549967
Chromosome Location	chr1:161688756-161688757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr1:161688585-161688825	GM12878	blood:	n/a	n/a
2	NFATC1	chr1:161688487-161689065	GM12878	blood:	n/a	n/a
3	ZNF143	chr1:161688675-161688904	GM12878	blood:	n/a	n/a
4	SPI1	chr1:161688668-161688838	K562	blood:	n/a	n/a
5	FOXM1	chr1:161688464-161689279	GM12878	blood:	n/a	n/a
6	PAX5	chr1:161688570-161689049	GM12891	blood:	n/a	n/a
7	SPI1	chr1:161688465-161689107	GM12891	blood:	n/a	n/a
8	EBF1	chr1:161688562-161688938	GM12878	blood:	n/a	n/a
9	SPI1	chr1:161688641-161689007	HL-60	blood:	n/a	n/a
10	RUNX3	chr1:161688365-161689093	GM12878	blood:	n/a	n/a
11	ATF2	chr1:161688413-161689260	GM12878	blood:	n/a	n/a
12	PML	chr1:161688280-161689306	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr1:161688434-161689118	GM12878	blood:	n/a	n/a
14	RELA	chr1:161688417-161689343	GM19099	blood:	n/a	n/a
15	NFIC	chr1:161688329-161689129	GM12878	blood:	n/a	n/a
16	IRF4	chr1:161688526-161689430	GM12878	blood:	n/a	n/a
17	SPI1	chr1:161688527-161689017	GM12878	blood:	n/a	n/a
18	IRF4	chr1:161688525-161689063	GM12878	blood:	n/a	n/a
19	NFATC1	chr1:161688409-161689079	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:161688469-161689202	GM12878	blood:	n/a	n/a
21	CEBPB	chr1:161688433-161689415	GM12878	blood:	n/a	n/a
22	STAT3	chr1:161688464-161688912	GM12878	blood:	n/a	n/a
23	BHLHE40	chr1:161688367-161688984	GM12878	blood:	n/a	n/a
24	SPI1	chr1:161688600-161688910	GM12878	blood:	n/a	n/a
25	RCOR1	chr1:161688516-161689345	GM12878	blood:	n/a	n/a
26	SPI1	chr1:161688270-161689328	GM12878	blood:	n/a	n/a
27	PAX5	chr1:161688706-161688931	GM12878	blood:	n/a	n/a
28	NFIC	chr1:161688368-161689385	GM12878	blood:	n/a	n/a
29	EP300	chr1:161688562-161689309	GM12878	blood:	n/a	n/a
30	MXI1	chr1:161688464-161689253	GM12878	blood:	n/a	n/a
31	BATF	chr1:161688608-161689324	GM12878	blood:	n/a	n/a
32	IKZF1	chr1:161688544-161689254	GM12878	blood:	n/a	n/a
33	BATF	chr1:161688480-161689390	GM12878	blood:	n/a	n/a
34	SPI1	chr1:161688525-161688988	HL-60	blood:	n/a	n/a
35	REST	chr1:161688674-161688896	Hela-S3	cervix:	n/a	n/a
36	CHD1	chr1:161688625-161689022	GM12878	blood:	n/a	n/a
37	RUNX3	chr1:161688356-161689360	GM12878	blood:	n/a	n/a
38	SPI1	chr1:161688443-161689052	GM12891	blood:	n/a	n/a
39	ATF2	chr1:161688555-161689344	GM12878	blood:	n/a	n/a
40	CUX1	chr1:161688631-161689266	GM12878	blood:	n/a	n/a
41	MEF2A	chr1:161688388-161688974	GM12878	blood:	n/a	n/a
42	MTA3	chr1:161688349-161689368	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161682680..161684961-chr1:161687579..161689831,2	MCF-7	breast:

No data

Variant related genes	Relation type
FCRLB	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10799934	0.90[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10917746	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10917753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10917754	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10917809	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11586479	0.81[ASN][1000 genomes]
rs12048671	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12567036	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16858529	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16858733	0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1954174	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[ASN][1000 genomes]
rs2050887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4468140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56270452	0.89[EUR][1000 genomes]
rs6427619	0.90[CHB][hapmap]
rs6427620	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6697814	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67476681	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72704099	0.88[ASN][1000 genomes]
rs7522783	0.81[ASN][1000 genomes]
rs7525788	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs905592	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161682600-161689600	Weak transcription	K562	blood
3	chr1:161688200-161689000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:161688200-161689000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:161688400-161688800	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr1:161688400-161688800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:161688400-161689000	Enhancers	Primary T cells from cord blood	blood
8	chr1:161688400-161689000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:161688400-161689200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:161688400-161689400	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:161688600-161689000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:161688600-161689000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:161688600-161689000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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