Variant report

Variant	rs73082214
Chromosome Location	chr5:41936149-41936150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41929223..41932201-chr5:41933782..41936776,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55753225	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55957622	0.83[AFR][1000 genomes]
rs57519513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57536348	0.81[AFR][1000 genomes]
rs58204687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58511292	0.83[AFR][1000 genomes]
rs59193276	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73078212	0.83[AFR][1000 genomes]
rs7732111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
4	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41926000-41937600	Weak transcription	Fetal Brain Male	brain
2	chr5:41926000-41937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:41926000-41940600	Weak transcription	Ovary	ovary
4	chr5:41926000-41951400	Weak transcription	Gastric	stomach
5	chr5:41926200-41936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:41926200-41937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:41926200-41937400	Weak transcription	Fetal Brain Female	brain
8	chr5:41926200-41937400	Weak transcription	Fetal Kidney	kidney
9	chr5:41926200-41939000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:41926200-41940800	Weak transcription	HSMMtube	muscle
11	chr5:41926200-41940800	Weak transcription	NHDF-Ad	bronchial
12	chr5:41926200-41941000	Weak transcription	NHLF	lung
13	chr5:41926200-41943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:41926200-41945000	Weak transcription	HSMM	muscle
15	chr5:41926200-41945200	Weak transcription	Esophagus	oesophagus
16	chr5:41926200-41945400	Weak transcription	Fetal Lung	lung
17	chr5:41926200-41946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:41926200-41947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:41926400-41936800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:41926400-41937000	Weak transcription	Osteobl	bone
21	chr5:41926400-41939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:41926400-41940600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:41926400-41940600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:41926400-41941600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:41926400-41942800	Weak transcription	Thymus	Thymus
26	chr5:41926800-41946200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:41927400-41940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:41928000-41937400	Weak transcription	GM12878-XiMat	blood
29	chr5:41929600-41942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:41929800-41936800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:41930000-41940600	Weak transcription	HepG2	liver
32	chr5:41930600-41943000	Weak transcription	Hela-S3	cervix
33	chr5:41931200-41937600	Strong transcription	Primary B cells from cord blood	blood
34	chr5:41931600-41936200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:41931600-41939600	Strong transcription	Liver	Liver
36	chr5:41932000-41936600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:41932200-41937200	Weak transcription	A549	lung
38	chr5:41933000-41936400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:41933000-41942200	Weak transcription	Small Intestine	intestine
40	chr5:41933200-41936600	Weak transcription	NHEK	skin
41	chr5:41933600-41936400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:41933800-41937600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:41934000-41936200	Strong transcription	Placenta	Placenta
44	chr5:41934000-41936200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:41934000-41936800	Strong transcription	Adipose Nuclei	Adipose
46	chr5:41934000-41937000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:41934000-41937200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:41934000-41938200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:41934000-41939200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:41934000-41939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links