Variant report

Variant	rs45483194
Chromosome Location	chr11:104900948-104900949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11604437	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11605345	0.89[AMR][1000 genomes]
rs3181174	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45524138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45581634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55768924	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55851817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046641	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572687	0.82[AFR][1000 genomes]
rs7934239	0.81[AMR][1000 genomes];0.96[EUR][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	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104894000-104903400	Weak transcription	GM12878-XiMat	blood
2	chr11:104894200-104904200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:104894200-104905600	Weak transcription	Esophagus	oesophagus
4	chr11:104894800-104903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:104895000-104904200	Weak transcription	Psoas Muscle	Psoas
6	chr11:104895600-104902000	Strong transcription	Adipose Nuclei	Adipose
7	chr11:104895800-104902000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:104895800-104902200	Strong transcription	Primary B cells from cord blood	blood
9	chr11:104895800-104902200	Strong transcription	Liver	Liver
10	chr11:104895800-104904200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:104896000-104904200	Weak transcription	NHDF-Ad	bronchial
12	chr11:104896200-104902200	Strong transcription	Primary T cells from cord blood	blood
13	chr11:104896200-104903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:104896400-104902000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:104896400-104902200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:104896400-104904000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:104896600-104902000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:104896600-104903000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:104896800-104901800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:104896800-104902000	Strong transcription	Dnd41	blood
21	chr11:104897000-104902200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:104897400-104902200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:104897800-104905600	Weak transcription	Ovary	ovary
24	chr11:104898000-104902200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:104898400-104901400	Strong transcription	HMEC	breast
26	chr11:104898400-104902200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
27	chr11:104898600-104902000	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:104898600-104902200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:104898800-104902000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:104898800-104902200	Strong transcription	NHLF	lung
31	chr11:104898800-104903800	Weak transcription	Stomach Mucosa	stomach
32	chr11:104899000-104902200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:104899000-104902200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:104899000-104903800	Weak transcription	Hela-S3	cervix
35	chr11:104899200-104901000	Genic enhancers	Duodenum Mucosa	Duodenum
36	chr11:104899200-104901600	Strong transcription	Fetal Lung	lung
37	chr11:104899200-104901800	Weak transcription	Gastric	stomach
38	chr11:104899200-104905400	Weak transcription	Aorta	Aorta
39	chr11:104899400-104901000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:104899400-104901600	Strong transcription	Placenta	Placenta
41	chr11:104899400-104901800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:104899400-104905400	Weak transcription	Fetal Brain Male	brain
43	chr11:104899400-104905600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:104899600-104902200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:104899600-104905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:104899600-104909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:104899800-104901200	Strong transcription	Colonic Mucosa	Colon
48	chr11:104899800-104901800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:104899800-104902000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:104899800-104902200	Strong transcription	Spleen	Spleen

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