Variant report

Variant	rs41422546
Chromosome Location	chr11:108767993-108767994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11821743	0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108632	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108736	1.00[MEX][hapmap]
rs17108749	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58119616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73556767	0.84[AFR][1000 genomes]
rs73558654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73560832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2761707	chr11:108763836-108772204	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
3	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:108764800-108768000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:108764800-108768200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:108765000-108768000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:108765000-108768400	Enhancers	Hela-S3	cervix
8	chr11:108765600-108768600	Weak transcription	K562	blood
9	chr11:108765800-108768000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:108765800-108768800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:108766000-108768200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:108766000-108768400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:108766200-108768800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:108766400-108768000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:108766400-108768000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:108766400-108768200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:108766400-108768400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:108766600-108775600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:108766800-108768000	Enhancers	NHLF	lung
20	chr11:108766800-108769800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:108767000-108768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:108767000-108768200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:108767000-108768200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:108767000-108768200	Enhancers	NHEK	skin
25	chr11:108767000-108768400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:108767000-108777200	Weak transcription	Adipose Nuclei	Adipose
27	chr11:108767200-108768000	Enhancers	A549	lung
28	chr11:108767200-108768200	Enhancers	Osteobl	bone
29	chr11:108767200-108768400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:108767200-108768400	Enhancers	HMEC	breast
31	chr11:108767400-108768000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:108767400-108768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:108767400-108768600	Enhancers	HUVEC	blood vessel
34	chr11:108767400-108769000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:108767600-108768400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:108767600-108768600	Enhancers	NH-A	brain
37	chr11:108767600-108777000	Weak transcription	HSMM	muscle
38	chr11:108767800-108768000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:108767800-108768000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:108767800-108768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:108767800-108768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:108767800-108768800	ZNF genes & repeats	Dnd41	blood
43	chr11:108767800-108769200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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