Variant report

Variant	rs367241
Chromosome Location	chr19:44456954-44456955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs364378	0.87[AMR][1000 genomes]
rs364693	0.87[AMR][1000 genomes]
rs365769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs367056	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs373043	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs376769	0.87[AMR][1000 genomes]
rs379722	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs382715	0.87[AMR][1000 genomes]
rs384432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs391596	0.83[AFR][1000 genomes]
rs393117	0.87[AFR][1000 genomes]
rs393403	0.96[AFR][1000 genomes]
rs393473	0.96[AFR][1000 genomes]
rs393737	0.83[AFR][1000 genomes]
rs395143	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs424364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs441225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs442934	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs446072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452143	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs461374	0.87[AMR][1000 genomes]
rs465860	0.87[AMR][1000 genomes]
rs8101844	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44454800-44457000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:44454800-44460000	ZNF genes & repeats	Fetal Brain Male	brain
3	chr19:44455800-44457000	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr19:44455800-44459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:44455800-44459400	Weak transcription	Gastric	stomach
6	chr19:44456000-44457400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:44456000-44458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:44456000-44458600	Weak transcription	Colonic Mucosa	Colon
9	chr19:44456000-44459200	Weak transcription	Fetal Intestine Large	intestine
10	chr19:44456000-44459800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
15	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:44456200-44457000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:44456200-44457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:44456200-44458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:44456200-44459800	ZNF genes & repeats	Fetal Stomach	stomach
20	chr19:44456200-44460200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr19:44456400-44457000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:44456400-44457000	Enhancers	Left Ventricle	heart
24	chr19:44456400-44457000	ZNF genes & repeats	HSMM	muscle
25	chr19:44456400-44457200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:44456400-44457600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:44456400-44457800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:44456400-44458000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:44456400-44458400	Weak transcription	HMEC	breast
30	chr19:44456400-44460000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:44456400-44460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:44456400-44460400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:44456400-44460600	ZNF genes & repeats	Fetal Lung	lung
34	chr19:44456400-44461000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
38	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
40	chr19:44456600-44457000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr19:44456600-44457000	Enhancers	Dnd41	blood
42	chr19:44456600-44457400	Strong transcription	Ovary	ovary
43	chr19:44456600-44457600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:44456600-44458600	Weak transcription	Brain Anterior Caudate	brain
45	chr19:44456600-44458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:44456600-44458600	Weak transcription	Right Ventricle	heart
47	chr19:44456600-44459000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:44456600-44459200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:44456600-44459400	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:44456600-44461600	Weak transcription	NHLF	lung

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