Variant report

Variant	rs2736343
Chromosome Location	chr8:11349250-11349251
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	STAT5A	chr8:11349083-11353262	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942 chr8:11351042-11351049 chr8:11352671-11352682
2	RCOR1	chr8:11349075-11352611	GM12878	blood:	n/a	n/a
3	FOXM1	chr8:11348939-11352758	GM12878	blood:	n/a	n/a
4	NFATC1	chr8:11349083-11352677	GM12878	blood:	n/a	n/a
5	BHLHE40	chr8:11349162-11351476	GM12878	blood:	n/a	n/a
6	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
7	MEF2A	chr8:11349157-11350487	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11350128-11350136
8	NFATC1	chr8:11349138-11353285	GM12878	blood:	n/a	n/a
9	CREB1	chr8:11349212-11350576	GM12878	blood:	n/a	n/a
10	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
11	BATF	chr8:11349196-11350520	GM12878	blood:	n/a	chr8:11349740-11349749
12	STAT5A	chr8:11348975-11350956	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
13	PAX5	chr8:11349223-11349857	GM12892	blood:	n/a	chr8:11349705-11349714
14	POLR2A	chr8:11349245-11349852	GM12891	blood:	n/a	n/a
15	RELA	chr8:11349085-11352720	GM12878	blood:	n/a	n/a
16	POU2F2	chr8:11349208-11349985	GM12891	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
17	PAX5	chr8:11349175-11349889	GM12891	blood:	n/a	chr8:11349705-11349714
18	MEF2C	chr8:11349095-11350038	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11349151-11349162
19	ZNF143	chr8:11348992-11349905	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
21	FOXM1	chr8:11349085-11352717	GM12878	blood:	n/a	n/a
22	SPI1	chr8:11349183-11351453	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
23	TAF1	chr8:11349235-11350708	GM12878	blood:	n/a	n/a
24	MTA3	chr8:11349139-11352733	GM12878	blood:	n/a	n/a
25	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
26	MXI1	chr8:11349147-11352672	GM12878	blood:	n/a	n/a
27	RELA	chr8:11348954-11351628	GM10847	blood:	n/a	n/a
28	POLR2A	chr8:11348894-11357440	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:11348840-11353431	Raji	blood:	n/a	n/a
30	NFE2	chr8:11349226-11349667	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:11348797-11357460	GM12878	blood:	n/a	n/a
32	STAT3	chr8:11349242-11350410	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
33	PAX5	chr8:11349230-11350747	GM12878	blood:	n/a	chr8:11349705-11349714
34	POLR2A	chr8:11348826-11357664	GM18505	blood:	n/a	n/a
35	SMC3	chr8:11349100-11350484	GM12878	blood:	n/a	n/a
36	IKZF1	chr8:11349242-11351367	GM12878	blood:	n/a	n/a
37	MAZ	chr8:11349028-11350421	GM12878	blood:	n/a	n/a
38	CHD1	chr8:11349035-11353547	GM12878	blood:	n/a	n/a
39	STAT1	chr8:11349004-11350426	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
40	PML	chr8:11348838-11353257	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:11348927-11353187	GM12878	blood:	n/a	n/a
42	MTA3	chr8:11348542-11357777	GM12878	blood:	n/a	n/a
43	EP300	chr8:11349025-11351404	GM12878	blood:	n/a	chr8:11349705-11349719 chr8:11351043-11351052 chr8:11351016-11351030
44	POLR2A	chr8:11349180-11353783	GM12878	blood:	n/a	n/a
45	EP300	chr8:11349116-11351543	GM12878	blood:	n/a	chr8:11349705-11349719 chr8:11351043-11351052 chr8:11351016-11351030
46	ATF2	chr8:11348914-11352994	GM12878	blood:	n/a	n/a
47	TBP	chr8:11349169-11353181	GM12878	blood:	n/a	n/a
48	SP1	chr8:11349196-11350449	GM12878	blood:	n/a	n/a
49	YY1	chr8:11348912-11349969	GM12878	blood:	n/a	chr8:11349097-11349108
50	RUNX3	chr8:11348819-11353505	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13256690	0.89[ASN][1000 genomes]
rs13277113	0.83[ASN][1000 genomes]
rs1382568	0.85[ASN][1000 genomes]
rs1478887	0.80[ASN][1000 genomes]
rs1478895	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1478900	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1478901	0.83[ASN][1000 genomes]
rs1531577	0.90[ASN][1000 genomes]
rs1564267	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2061831	0.81[ASN][1000 genomes]
rs2244234	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250412	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2250788	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251056	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254546	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254660	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2254891	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2618473	0.84[ASN][1000 genomes]
rs2618476	0.85[ASN][1000 genomes]
rs2618478	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2618479	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2618480	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2618481	0.87[ASN][1000 genomes]
rs2736332	0.82[ASN][1000 genomes]
rs2736335	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2736340	0.84[ASN][1000 genomes]
rs2736344	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736345	0.96[ASN][1000 genomes]
rs35393613	0.86[ASN][1000 genomes]
rs4840565	0.95[ASN][1000 genomes]
rs4840568	0.82[ASN][1000 genomes]
rs62489069	0.86[ASN][1000 genomes]
rs7812879	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs922483	0.93[ASN][1000 genomes]
rs9693589	0.83[ASN][1000 genomes]
rs9694294	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998682	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998683	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11348000-11350200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:11348400-11349800	Enhancers	Primary B cells from cord blood	blood
6	chr8:11348600-11349400	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:11349000-11349600	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:11349000-11350200	Enhancers	Dnd41	blood
9	chr8:11349000-11350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11349000-11351600	Enhancers	Fetal Thymus	thymus
11	chr8:11349000-11351800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:11349000-11351800	Enhancers	Thymus	Thymus
13	chr8:11349200-11349400	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr8:11349200-11349400	Enhancers	Primary T cells from cord blood	blood
15	chr8:11349200-11349600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:11349200-11350400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:11349200-11350400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr8:11349200-11350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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