Variant report

Variant	rs2926657
Chromosome Location	chr11:57517572-57517573
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	MAFK	chr11:57517332-57517580	HepG2	liver:	n/a	chr11:57517452-57517472 chr11:57517535-57517546 chr11:57517534-57517548 chr11:57517451-57517466 chr11:57517535-57517546
2	MAFF	chr11:57517368-57517597	HepG2	liver:	n/a	chr11:57517449-57517467
3	POLR2A	chr11:57517532-57517737	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57507833..57511012-chr11:57515890..57519512,4	MCF-7	breast:
2	chr11:57516743..57518799-chr11:57520636..57522160,2	MCF-7	breast:

Variant related genes	Relation type
CTNND1	TF binding region
ENSG00000211450	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10896641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11229097	0.81[AFR][1000 genomes]
rs11570214	0.94[AFR][1000 genomes]
rs11570222	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284270	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1704778	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911726	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2926651	0.84[AFR][1000 genomes]
rs2926652	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs2956979	0.84[AFR][1000 genomes]
rs2969934	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2969940	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs2969946	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs613152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620450	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637770	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs686459	0.95[YRI][hapmap];0.87[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2926657	CTNND1	cis	multi-tissue	Pritchard

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57509800-57519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57510200-57518400	Weak transcription	Psoas Muscle	Psoas
3	chr11:57510400-57519000	Weak transcription	Stomach Mucosa	stomach
4	chr11:57510400-57519400	Weak transcription	Right Atrium	heart
5	chr11:57510400-57519400	Weak transcription	Small Intestine	intestine
6	chr11:57510400-57528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:57511800-57519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:57511800-57528800	Weak transcription	Fetal Brain Male	brain
9	chr11:57512000-57528800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:57512200-57528800	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:57512400-57519000	Weak transcription	HepG2	liver
12	chr11:57512400-57519400	Weak transcription	HUVEC	blood vessel
13	chr11:57512400-57520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:57512400-57528800	Weak transcription	HSMM	muscle
15	chr11:57512600-57518600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:57512600-57519000	Weak transcription	A549	lung
17	chr11:57512600-57519400	Weak transcription	Ovary	ovary
18	chr11:57512600-57519400	Weak transcription	Pancreas	Pancrea
19	chr11:57512600-57519400	Weak transcription	HMEC	breast
20	chr11:57512600-57521800	Weak transcription	Fetal Lung	lung
21	chr11:57512600-57526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:57512600-57528800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:57512800-57518000	Weak transcription	K562	blood
24	chr11:57512800-57521600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:57512800-57528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:57513000-57518600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:57513000-57528800	Weak transcription	HSMMtube	muscle
28	chr11:57513200-57519400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:57513200-57528600	Weak transcription	NHEK	skin
30	chr11:57513600-57518200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:57513600-57519000	Weak transcription	NHLF	lung
32	chr11:57513600-57519200	Weak transcription	Brain Substantia Nigra	brain
33	chr11:57513600-57519400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:57513600-57519400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:57513600-57519400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:57513600-57519400	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:57513600-57519400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:57513600-57519400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:57513600-57520200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:57513600-57520200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:57513600-57528800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:57513600-57528800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:57513600-57528800	Weak transcription	Colonic Mucosa	Colon
44	chr11:57513600-57529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:57513600-57531200	Weak transcription	Gastric	stomach
46	chr11:57513800-57518600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:57513800-57518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:57513800-57519400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:57513800-57519400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:57513800-57519400	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links