Variant report

Variant	rs60098944
Chromosome Location	chr5:41936801-41936802
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	chr5:41936702..41938958-chr5:41940311..41941836,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2231914	1.00[AMR][1000 genomes]
rs57365158	0.89[AFR][1000 genomes]
rs57472589	0.89[AFR][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:90 , 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	chr5:41926200-41937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:41926200-41937400	Weak transcription	Fetal Brain Female	brain
7	chr5:41926200-41937400	Weak transcription	Fetal Kidney	kidney
8	chr5:41926200-41939000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:41926200-41940800	Weak transcription	HSMMtube	muscle
10	chr5:41926200-41940800	Weak transcription	NHDF-Ad	bronchial
11	chr5:41926200-41941000	Weak transcription	NHLF	lung
12	chr5:41926200-41943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:41926200-41945000	Weak transcription	HSMM	muscle
14	chr5:41926200-41945200	Weak transcription	Esophagus	oesophagus
15	chr5:41926200-41945400	Weak transcription	Fetal Lung	lung
16	chr5:41926200-41946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:41926200-41947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:41926400-41937000	Weak transcription	Osteobl	bone
19	chr5:41926400-41939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:41926400-41940600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:41926400-41940600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:41926400-41941600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:41926400-41942800	Weak transcription	Thymus	Thymus
24	chr5:41926800-41946200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:41927400-41940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:41928000-41937400	Weak transcription	GM12878-XiMat	blood
27	chr5:41929600-41942800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:41930000-41940600	Weak transcription	HepG2	liver
29	chr5:41930600-41943000	Weak transcription	Hela-S3	cervix
30	chr5:41931200-41937600	Strong transcription	Primary B cells from cord blood	blood
31	chr5:41931600-41939600	Strong transcription	Liver	Liver
32	chr5:41932200-41937200	Weak transcription	A549	lung
33	chr5:41933000-41942200	Weak transcription	Small Intestine	intestine
34	chr5:41933800-41937600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:41934000-41937000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:41934000-41937200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:41934000-41938200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:41934000-41939200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:41934000-41939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:41934200-41937000	Strong transcription	Dnd41	blood
41	chr5:41934200-41937000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:41934200-41938200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:41934200-41939200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:41934600-41938000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:41935400-41937000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:41935400-41943000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:41935600-41937200	Weak transcription	Brain Substantia Nigra	brain
48	chr5:41935600-41945600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:41935800-41946000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:41935800-41946200	Weak transcription	Brain Inferior Temporal Lobe	brain

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