Variant report

Variant	rs73139235
Chromosome Location	chr5:96342312-96342313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1423567	1.00[AMR][1000 genomes]
rs59959433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135403	0.89[AFR][1000 genomes]
rs73135411	1.00[AMR][1000 genomes]
rs73135415	1.00[AMR][1000 genomes]
rs73135418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135420	1.00[AMR][1000 genomes]
rs73135421	1.00[AMR][1000 genomes]
rs73135423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135424	1.00[AMR][1000 genomes]
rs73137399	1.00[AMR][1000 genomes]
rs73139219	1.00[AMR][1000 genomes]
rs73139226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73141126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152163	0.89[AFR][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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304800-96346600	Weak transcription	Lung	lung
2	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
3	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
6	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
8	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
9	chr5:96314400-96343800	Strong transcription	Dnd41	blood
10	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
14	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
15	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:96316400-96346600	Weak transcription	NH-A	brain
17	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:96321200-96344600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:96321600-96344800	Weak transcription	Small Intestine	intestine
20	chr5:96322200-96348600	Weak transcription	Fetal Kidney	kidney
21	chr5:96322200-96349800	Weak transcription	Psoas Muscle	Psoas
22	chr5:96322400-96353600	Weak transcription	Right Ventricle	heart
23	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:96322400-96359600	Weak transcription	Gastric	stomach
25	chr5:96326400-96346600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:96329800-96358800	Weak transcription	Brain Germinal Matrix	brain
27	chr5:96330000-96359800	Weak transcription	Aorta	Aorta
28	chr5:96330400-96359400	Weak transcription	Fetal Brain Female	brain
29	chr5:96330600-96353600	Weak transcription	Esophagus	oesophagus
30	chr5:96331600-96344600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:96331600-96356200	Weak transcription	Fetal Stomach	stomach
32	chr5:96331600-96357800	Weak transcription	Spleen	Spleen
33	chr5:96331800-96349800	Weak transcription	HSMM	muscle
34	chr5:96333400-96344600	Strong transcription	GM12878-XiMat	blood
35	chr5:96333600-96343000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:96333800-96342600	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:96333800-96342800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:96333800-96343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:96333800-96343200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:96333800-96344000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
43	chr5:96334000-96343200	Strong transcription	Adipose Nuclei	Adipose
44	chr5:96334000-96343200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr5:96334400-96346400	Weak transcription	HMEC	breast
46	chr5:96334800-96351800	Weak transcription	A549	lung
47	chr5:96335000-96344800	Weak transcription	Fetal Heart	heart
48	chr5:96335400-96342800	Strong transcription	Liver	Liver
49	chr5:96335600-96343200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:96335800-96359600	Weak transcription	Stomach Mucosa	stomach

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