Variant report

Variant	rs7682759
Chromosome Location	chr4:122075421-122075422
allele	A/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	BATF	chr4:122075266-122075602	GM12878	blood:	n/a	n/a
2	NFIC	chr4:122075080-122075671	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:122075090-122075724	GM12878	blood:	n/a	chr4:122075369-122075378 chr4:122075369-122075378
4	RUNX3	chr4:122075083-122075646	GM12878	blood:	n/a	chr4:122075369-122075378 chr4:122075369-122075378
5	IKZF1	chr4:122075128-122075536	GM12878	blood:	n/a	n/a
6	MEF2A	chr4:122075183-122075603	GM12878	blood:	n/a	n/a
7	FOXM1	chr4:122075099-122075657	GM12878	blood:	n/a	n/a
8	NFIC	chr4:122075115-122075666	GM12878	blood:	n/a	n/a
9	ATF2	chr4:122075100-122075725	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TNIP3	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10000692	1.00[YRI][hapmap]
rs10004021	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10009822	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10017221	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10021787	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11938699	1.00[AMR][1000 genomes]
rs17051305	1.00[AMR][1000 genomes]
rs17051318	0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs17051319	0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs28452005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452943	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28567402	1.00[AMR][1000 genomes]
rs28572759	0.83[AMR][1000 genomes]
rs28669888	0.83[AMR][1000 genomes]
rs28707603	0.83[AMR][1000 genomes]
rs6534255	0.83[AMR][1000 genomes]
rs6534256	0.83[AMR][1000 genomes]
rs6817294	1.00[AMR][1000 genomes]
rs6825601	0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs6840309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6845343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6847595	0.83[AMR][1000 genomes]
rs6847834	0.83[AMR][1000 genomes]
rs6847971	0.83[AMR][1000 genomes]
rs6852366	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684215	0.84[YRI][hapmap];0.83[AMR][1000 genomes]
rs7684241	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7684464	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs7684586	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs9784553	1.00[AMR][1000 genomes]
rs9992473	1.00[AMR][1000 genomes]
rs9992978	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9995558	0.98[AFR][1000 genomes];1.00[AMR][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122073000-122076400	Enhancers	Fetal Thymus	thymus
2	chr4:122073200-122075600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:122073200-122077600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:122073400-122076600	Weak transcription	Osteobl	bone
5	chr4:122073600-122075600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:122073600-122076400	Weak transcription	NHDF-Ad	bronchial
7	chr4:122073600-122076600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:122074000-122077000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:122074600-122076000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr4:122074600-122076600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:122074800-122075600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr4:122074800-122075800	Flanking Active TSS	Dnd41	blood
13	chr4:122074800-122076000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr4:122074800-122076000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:122074800-122076000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr4:122074800-122076000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr4:122075000-122075600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:122075000-122075600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr4:122075000-122075600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:122075000-122075600	Flanking Active TSS	Thymus	Thymus
21	chr4:122075000-122075600	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:122075000-122075800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr4:122075000-122075800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr4:122075000-122076000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:122075000-122076000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:122075000-122076000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:122075200-122075600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:122075200-122075600	Enhancers	HUVEC	blood vessel
29	chr4:122075200-122077200	Weak transcription	Small Intestine	intestine
30	chr4:122075400-122075800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:122075400-122076000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:122075400-122076600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:122075400-122077200	Weak transcription	Fetal Lung	lung
34	chr4:122075400-122077800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:122075400-122078000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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