Variant report

Variant	rs575938
Chromosome Location	chr11:104981105-104981106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11226598	0.83[AMR][1000 genomes]
rs28567909	1.00[AMR][1000 genomes]
rs45507492	1.00[AMR][1000 genomes]
rs45602234	0.83[AMR][1000 genomes]
rs55685308	0.83[AMR][1000 genomes]
rs571731	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58207132	1.00[AMR][1000 genomes]
rs59801167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61537972	0.83[AMR][1000 genomes]
rs61656179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7943897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1042388	chr11:104934347-104988325	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
9	esv2756562	chr11:104937371-104981568	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
10	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
11	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv524985	chr11:104960997-104991640	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104975000-104983400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:104979000-104982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:104979400-104981600	Weak transcription	Placenta	Placenta
4	chr11:104980200-104981200	Enhancers	HMEC	breast
5	chr11:104980200-104981800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:104980200-104982200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:104980400-104981200	Enhancers	Brain Anterior Caudate	brain
8	chr11:104980400-104981200	Enhancers	Fetal Intestine Small	intestine
9	chr11:104980400-104981600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:104980600-104981200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:104980600-104981800	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:104980600-104982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:104980800-104981200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:104980800-104981200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:104980800-104981200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:104980800-104981200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:104980800-104981200	Active TSS	Duodenum Mucosa	Duodenum
18	chr11:104980800-104981200	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:104980800-104981200	Enhancers	Fetal Kidney	kidney
20	chr11:104980800-104981200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:104980800-104981200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:104980800-104981200	Flanking Active TSS	Hela-S3	cervix
23	chr11:104980800-104981200	Active TSS	NHDF-Ad	bronchial
24	chr11:104980800-104981200	Flanking Active TSS	NHEK	skin
25	chr11:104980800-104981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:104980800-104981400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:104980800-104981400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:104980800-104981400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:104980800-104981400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:104980800-104981600	Flanking Active TSS	HUVEC	blood vessel
31	chr11:104980800-104981600	Active TSS	Osteobl	bone
32	chr11:104980800-104981800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:104980800-104981800	Enhancers	Dnd41	blood
34	chr11:104981000-104981200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:104981000-104981400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:104981000-104981400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:104981000-104981800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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