Variant report

Variant	rs7119212
Chromosome Location	chr11:59035047-59035048
allele	G/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	EBF1	chr11:59034585-59035084	GM12878	blood:	n/a	n/a
2	CTCF	chr11:59034920-59035070	GM06990	blood:	n/a	chr11:59035014-59035027
3	EBF1	chr11:59034619-59035198	GM12878	blood:	n/a	n/a
4	PAX5	chr11:59034691-59035049	GM12878	blood:	n/a	chr11:59034888-59034906
5	FOXM1	chr11:59034447-59035187	GM12878	blood:	n/a	n/a
6	NFIC	chr11:59034484-59035158	GM12878	blood:	n/a	n/a
7	BATF	chr11:59034671-59035066	GM12878	blood:	n/a	n/a
8	RELA	chr11:59034660-59035211	GM12891	blood:	n/a	n/a
9	PAX5	chr11:59034628-59035069	GM12878	blood:	n/a	chr11:59034888-59034906
10	TCF3	chr11:59034805-59035105	GM12878	blood:	n/a	n/a
11	BATF	chr11:59034600-59035093	GM12878	blood:	n/a	n/a
12	BCL11A	chr11:59034625-59035073	GM12878	blood:	n/a	n/a
13	BCL3	chr11:59034749-59035148	GM12878	blood:	n/a	n/a
14	TCF3	chr11:59034872-59035109	GM12878	blood:	n/a	n/a
15	RUNX3	chr11:59034567-59035131	GM12878	blood:	n/a	n/a
16	CEBPB	chr11:59034635-59035154	GM12878	blood:	n/a	n/a
17	IRF4	chr11:59034503-59035133	GM12878	blood:	n/a	n/a
18	STAT5A	chr11:59034399-59035121	GM12878	blood:	n/a	n/a
19	PML	chr11:59034438-59035149	GM12878	blood:	n/a	n/a
20	MEF2C	chr11:59034715-59035177	GM12878	blood:	n/a	n/a
21	POU2F2	chr11:59034491-59035068	GM12891	blood:	n/a	n/a
22	MTA3	chr11:59034433-59035178	GM12878	blood:	n/a	n/a
23	PAX5	chr11:59034575-59035168	GM12878	blood:	n/a	chr11:59034888-59034906
24	BHLHE40	chr11:59034767-59035074	GM12878	blood:	n/a	n/a
25	NFIC	chr11:59034592-59035184	GM12878	blood:	n/a	n/a
26	RELA	chr11:59034667-59035193	GM19099	blood:	n/a	n/a
27	PAX5	chr11:59034707-59035078	GM12891	blood:	n/a	chr11:59034888-59034906
28	FOXM1	chr11:59034509-59035148	GM12878	blood:	n/a	n/a
29	TCF12	chr11:59034753-59035088	GM12878	blood:	n/a	chr11:59035013-59035020
30	RUNX3	chr11:59034456-59035145	GM12878	blood:	n/a	n/a
31	ATF2	chr11:59034553-59035179	GM12878	blood:	n/a	n/a
32	TCF12	chr11:59034798-59035140	GM12878	blood:	n/a	chr11:59035013-59035020
33	BCLAF1	chr11:59034616-59035170	GM12878	blood:	n/a	n/a
34	EBF1	chr11:59034428-59035144	GM12878	blood:	n/a	n/a
35	EP300	chr11:59034698-59035134	GM12878	blood:	n/a	n/a
36	MEF2A	chr11:59034679-59035136	GM12878	blood:	n/a	n/a
37	ATF2	chr11:59034544-59035104	GM12878	blood:	n/a	n/a
38	IKZF1	chr11:59034669-59035169	GM12878	blood:	n/a	n/a
39	MTA3	chr11:59034638-59035130	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59032632..59035314-chr11:59038415..59042026,3	MCF-7	breast:

Variant related genes	Relation type
SLC25A47P1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11229900	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2275991	0.84[ASN][1000 genomes]
rs491558	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4938914	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591511	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591518	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928225	0.93[EUR][1000 genomes];0.92[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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59029800-59039000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr11:59029800-59040400	Enhancers	Primary B cells from cord blood	blood
3	chr11:59030000-59035400	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:59031200-59035400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:59031400-59039000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:59031800-59036800	Enhancers	Placenta	Placenta
7	chr11:59032000-59036200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:59032200-59036000	Enhancers	HMEC	breast
9	chr11:59032200-59036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:59032400-59036000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:59032600-59039200	Weak transcription	Spleen	Spleen
12	chr11:59033400-59036000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:59034000-59035800	Enhancers	NHEK	skin
14	chr11:59034000-59036600	Enhancers	GM12878-XiMat	blood
15	chr11:59034200-59036000	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:59034200-59040400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:59034400-59036000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:59034400-59036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:59034800-59035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:59035000-59038800	Weak transcription	Liver	Liver
21	chr11:59035000-59040600	Enhancers	Monocytes-CD14+_RO01746	blood

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