Variant report

Variant	rs11882340
Chromosome Location	chr19:44940392-44940393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11673449	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17347726	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356888	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57290748	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62116266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116270	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62116305	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62116306	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7507960	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926053	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs926054	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928000-44943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:44928200-44941000	ZNF genes & repeats	Liver	Liver
3	chr19:44928200-44941000	ZNF genes & repeats	Ovary	ovary
4	chr19:44928200-44943400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44929200-44945400	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44929400-44941000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:44931800-44941000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:44931800-44941600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:44932000-44941000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:44932000-44943400	ZNF genes & repeats	Fetal Lung	lung
12	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:44932200-44940400	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr19:44932200-44940800	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr19:44932200-44941000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:44932200-44941000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:44932200-44941000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44932200-44941000	ZNF genes & repeats	Left Ventricle	heart
19	chr19:44932200-44943400	ZNF genes & repeats	A549	lung
20	chr19:44932200-44943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
21	chr19:44932400-44940800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr19:44932400-44940800	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr19:44932400-44941000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:44932400-44941000	ZNF genes & repeats	Aorta	Aorta
25	chr19:44932400-44941000	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:44932600-44941000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44932600-44941000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:44932600-44941000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr19:44932800-44940800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44933800-44941200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:44934600-44950800	Weak transcription	Hela-S3	cervix
32	chr19:44935200-44941000	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr19:44935600-44940800	ZNF genes & repeats	Spleen	Spleen
34	chr19:44935800-44942200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44936000-44951400	Weak transcription	Fetal Heart	heart
36	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:44937200-44941000	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr19:44937400-44946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:44937600-44940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:44937800-44940400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:44937800-44942600	Weak transcription	HSMMtube	muscle
43	chr19:44938200-44940400	Strong transcription	Fetal Intestine Large	intestine
44	chr19:44938400-44941000	ZNF genes & repeats	Lung	lung
45	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:44938600-44941000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:44938600-44941000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
48	chr19:44938600-44941000	Strong transcription	Right Ventricle	heart
49	chr19:44938600-44941200	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr19:44938600-44946600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links