Variant report

Variant	rs11057167
Chromosome Location	chr12:123627491-123627492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123626633..123628310-chr12:123628394..123630305,2	MCF-7	breast:
2	chr12:123618954..123623520-chr12:123624080..123628885,6	MCF-7	breast:
3	chr12:123625936..123634145-chr12:123634916..123640513,10	K562	blood:
4	chr12:123572033..123574243-chr12:123627306..123629802,2	MCF-7	breast:
5	chr12:123625642..123631763-chr12:123633649..123636564,5	MCF-7	breast:
6	chr12:123623646..123628405-chr12:123632321..123637843,8	MCF-7	breast:
7	chr12:123623413..123625751-chr12:123625839..123628536,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10846516	1.00[CEU][hapmap]
rs11057171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11057173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057195	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11057199	1.00[AFR][1000 genomes]
rs11057213	1.00[AFR][1000 genomes]
rs11057215	1.00[AFR][1000 genomes]
rs11057239	1.00[CEU][hapmap]
rs11057252	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11057257	1.00[AFR][1000 genomes]
rs11057265	1.00[CEU][hapmap]
rs11057278	1.00[CEU][hapmap]
rs11060765	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11060942	0.80[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11061016	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11061244	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11061275	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11061615	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12368208	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12371718	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12372699	1.00[AFR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2844287	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28553365	1.00[AFR][1000 genomes]
rs36004829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs484200	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs523682	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56104963	1.00[AFR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs596940	0.80[CEU][hapmap]
rs61751326	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73231941	1.00[AFR][1000 genomes]
rs7486351	1.00[AFR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs947800	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs947801	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123618000-123634200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:123624000-123627600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:123624000-123628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:123624000-123628600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:123624000-123628600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:123624000-123628800	Enhancers	Brain Angular Gyrus	brain
8	chr12:123624000-123628800	Enhancers	Left Ventricle	heart
9	chr12:123624000-123629000	Enhancers	Colon Smooth Muscle	Colon
10	chr12:123624200-123627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:123624200-123627600	Flanking Active TSS	HepG2	liver
12	chr12:123624200-123627800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr12:123624200-123627800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:123624200-123628000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:123624200-123628200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:123624200-123628200	Enhancers	Fetal Intestine Large	intestine
17	chr12:123624200-123628200	Enhancers	Fetal Intestine Small	intestine
18	chr12:123624200-123628200	Enhancers	Fetal Stomach	stomach
19	chr12:123624200-123628400	Enhancers	Placenta	Placenta
20	chr12:123624200-123628400	Enhancers	K562	blood
21	chr12:123624200-123628600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr12:123624200-123628800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:123624200-123629000	Enhancers	Brain Anterior Caudate	brain
24	chr12:123624200-123629000	Enhancers	Right Ventricle	heart
25	chr12:123624400-123627600	Flanking Active TSS	Hela-S3	cervix
26	chr12:123624400-123627800	Enhancers	Stomach Mucosa	stomach
27	chr12:123624400-123628000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:123624400-123628600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123624400-123628600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:123624400-123630400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:123624600-123628000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:123624600-123628000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:123624600-123628200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:123624600-123628200	Enhancers	Fetal Heart	heart
35	chr12:123624600-123628600	Enhancers	Adipose Nuclei	Adipose
36	chr12:123624600-123628800	Enhancers	Pancreas	Pancrea
37	chr12:123624600-123629000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:123624600-123629000	Enhancers	NH-A	brain
39	chr12:123624600-123629200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:123624800-123627600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:123625000-123629000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:123625000-123633600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:123625200-123627600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:123625400-123627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:123625400-123632200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:123625400-123632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:123625400-123633800	Weak transcription	Fetal Brain Male	brain
48	chr12:123625400-123634600	Weak transcription	Aorta	Aorta
49	chr12:123625800-123627600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:123626000-123628400	Enhancers	Primary T helper cells fromperipheralblood	blood

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