Variant report

Variant	rs7126968
Chromosome Location	chr11:3854778-3854779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr11:3854655-3855034	K562	blood:	n/a	n/a
2	POLR2A	chr11:3854411-3855144	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:3854719-3854794	K562	blood:	n/a	n/a
4	POLR2A	chr11:3854230-3854996	PANC-1	pancreas:	n/a	n/a
5	EP300	chr11:3854674-3855145	K562	blood:	n/a	n/a
6	POLR2A	chr11:3854387-3854878	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:3854665-3855248	GM12892	blood:	n/a	n/a
8	TEAD4	chr11:3854531-3855274	K562	blood:	n/a	n/a
9	TAL1	chr11:3854676-3855079	K562	blood:	n/a	n/a
10	POLR2A	chr11:3854646-3855150	K562	blood:	n/a	n/a
11	POLR2A	chr11:3854324-3855150	K562	blood:	n/a	n/a
12	POLR2A	chr11:3854589-3857071	GM12878	blood:	n/a	n/a
13	GATA1	chr11:3854507-3855207	PBDE	blood:	n/a	chr11:3854751-3854767
14	POLR2A	chr11:3852687-3855224	GM12878	blood:	n/a	n/a
15	TEAD4	chr11:3854607-3855053	K562	blood:	n/a	n/a
16	POLR2A	chr11:3851880-3854822	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:3854494-3855202	PANC-1	pancreas:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3830424..3832547-chr11:3854238..3857029,2	K562	blood:
2	chr11:3853294..3855023-chr11:3877821..3880627,2	K562	blood:
3	chr11:3853798..3856714-chr11:3858547..3860187,2	MCF-7	breast:
4	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:

No data

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000177105	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000110713	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16929738	1.00[AMR][1000 genomes]
rs16929761	1.00[AMR][1000 genomes]
rs17173880	1.00[AMR][1000 genomes]
rs34160712	1.00[AMR][1000 genomes]
rs55726541	1.00[AMR][1000 genomes]
rs74050208	1.00[AMR][1000 genomes]
rs74050302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053503	1.00[AMR][1000 genomes]
rs7937476	1.00[AMR][1000 genomes]
rs7941740	1.00[AMR][1000 genomes]
rs9666326	1.00[AMR][1000 genomes]
rs9666327	1.00[AMR][1000 genomes]
rs9666328	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:3844400-3856200	Strong transcription	Fetal Stomach	stomach
4	chr11:3844800-3854800	Strong transcription	Dnd41	blood
5	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:3845000-3856000	Weak transcription	HUVEC	blood vessel
7	chr11:3845200-3855800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:3845400-3855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:3845400-3855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:3845600-3855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:3846400-3855000	Strong transcription	NHEK	skin
12	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
14	chr11:3848800-3855400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:3849200-3855400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:3849400-3855800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:3849400-3855800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:3849400-3856000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:3849400-3856000	Weak transcription	Brain Germinal Matrix	brain
20	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:3849600-3855600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:3849600-3855600	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:3849600-3855800	Weak transcription	Aorta	Aorta
24	chr11:3849600-3856400	Weak transcription	Ovary	ovary
25	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
26	chr11:3849800-3854800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:3849800-3855400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:3849800-3855800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:3849800-3856200	Weak transcription	HSMM	muscle
30	chr11:3850200-3855000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:3850400-3855600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:3850600-3855600	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr11:3851400-3854800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:3851400-3855600	Genic enhancers	Primary T cells from cord blood	blood
35	chr11:3851600-3854800	Weak transcription	HMEC	breast
36	chr11:3851600-3855600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:3851600-3856000	Weak transcription	NH-A	brain
38	chr11:3851600-3857200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:3851800-3855600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:3851800-3856000	Weak transcription	Fetal Lung	lung
41	chr11:3852000-3855600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:3852000-3855800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:3852000-3856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:3852000-3856000	Enhancers	Brain Substantia Nigra	brain
45	chr11:3852000-3856600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr11:3852000-3858600	Enhancers	Brain Anterior Caudate	brain
47	chr11:3852200-3854800	Weak transcription	NHLF	lung
48	chr11:3852200-3855600	Enhancers	Brain Hippocampus Middle	brain
49	chr11:3852200-3856200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:3852200-3857000	Genic enhancers	Spleen	Spleen

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