Variant report

Variant	rs7731843
Chromosome Location	chr5:112298091-112298092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112294256..112295877-chr5:112297212..112298935,2	K562	blood:
2	chr5:112296171..112299064-chr5:112312877..112315865,3	K562	blood:
3	chr5:112297580..112299922-chr5:112309564..112312558,3	K562	blood:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11955442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741889	1.00[AMR][1000 genomes]
rs61747099	1.00[AMR][1000 genomes]
rs6869064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6896641	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71577430	0.91[AFR][1000 genomes]
rs7721560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7726290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
2	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart
4	chr5:112294800-112304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:112295200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:112295200-112299000	Weak transcription	Adipose Nuclei	Adipose
7	chr5:112295200-112299600	Enhancers	GM12878-XiMat	blood
8	chr5:112295200-112304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:112295800-112299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112295800-112299000	Weak transcription	Placenta	Placenta
11	chr5:112296000-112299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112296000-112299400	Weak transcription	HMEC	breast
13	chr5:112296000-112299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:112296200-112299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:112296200-112299000	Weak transcription	NHEK	skin
16	chr5:112296400-112299000	Weak transcription	HSMM	muscle
17	chr5:112296400-112299600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:112296400-112299600	Weak transcription	HSMMtube	muscle
19	chr5:112296400-112299600	Weak transcription	HUVEC	blood vessel
20	chr5:112296600-112299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:112296800-112298800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:112296800-112299000	Weak transcription	Hela-S3	cervix
23	chr5:112297000-112298800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:112297000-112298800	Weak transcription	Osteobl	bone
25	chr5:112297000-112299000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112297000-112299000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:112297000-112299000	Weak transcription	NHDF-Ad	bronchial
28	chr5:112297000-112299000	Weak transcription	NHLF	lung
29	chr5:112297000-112304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112297200-112298600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:112297200-112298600	Weak transcription	Psoas Muscle	Psoas
32	chr5:112297200-112298600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:112297200-112299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:112297200-112299000	Weak transcription	NH-A	brain
35	chr5:112297200-112299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:112297600-112298800	Weak transcription	K562	blood
37	chr5:112297600-112299000	Weak transcription	A549	lung
38	chr5:112297600-112299600	Weak transcription	HepG2	liver
39	chr5:112297800-112299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:112298000-112298200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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