Variant report

Variant	rs55696165
Chromosome Location	chr19:37840974-37840975
allele	C/T
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]
rs55880052	0.87[AFR][1000 genomes]
rs57082213	1.00[AMR][1000 genomes]
rs59680035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60177574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60574955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930974	1.00[AMR][1000 genomes]
rs73930978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930979	1.00[AFR][1000 genomes]
rs73930982	0.86[AFR][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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv9718	chr19:37839070-37852872	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37826600-37848800	Weak transcription	Small Intestine	intestine
3	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:37826800-37846600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:37826800-37847000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:37826800-37852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37826800-37853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:37827000-37845800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:37827000-37853400	Weak transcription	Stomach Mucosa	stomach
11	chr19:37828000-37855800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:37830000-37846800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:37830000-37853600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:37830800-37853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:37831800-37842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37831800-37846400	Strong transcription	Dnd41	blood
17	chr19:37832000-37842000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:37832200-37842000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr19:37832600-37843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:37832600-37852200	Weak transcription	Fetal Thymus	thymus
21	chr19:37832800-37850800	Weak transcription	HMEC	breast
22	chr19:37832800-37852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:37833000-37845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr19:37833800-37843400	Strong transcription	Adipose Nuclei	Adipose
25	chr19:37834200-37841800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:37834400-37841600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:37834400-37842000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37834400-37843000	Strong transcription	Placenta	Placenta
29	chr19:37834400-37843200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:37834400-37844200	Strong transcription	Fetal Stomach	stomach
31	chr19:37834400-37845200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:37834400-37847800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:37834600-37841400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:37834600-37845600	Strong transcription	Primary B cells from cord blood	blood
35	chr19:37834600-37846000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:37834600-37846800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:37834800-37841000	Strong transcription	Brain Hippocampus Middle	brain
38	chr19:37834800-37841200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:37834800-37843000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:37834800-37846000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:37835000-37844600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:37835200-37842000	Strong transcription	Fetal Intestine Large	intestine
43	chr19:37835600-37844200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr19:37836000-37841800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:37836000-37845400	Weak transcription	Fetal Kidney	kidney
46	chr19:37836200-37841400	Strong transcription	Gastric	stomach
47	chr19:37836800-37852000	Weak transcription	Aorta	Aorta
48	chr19:37837000-37846400	Weak transcription	NHDF-Ad	bronchial
49	chr19:37837200-37841200	Strong transcription	Left Ventricle	heart
50	chr19:37837200-37842800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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