Variant report

Variant	rs2303079
Chromosome Location	chr5:7875307-7875308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7873979..7876833-chr5:7886025..7888380,2	K562	blood:
2	chr5:7861753..7863633-chr5:7874321..7876476,2	K562	blood:
3	chr5:7874190..7876612-chr5:7884831..7887191,2	K562	blood:

Variant related genes	Relation type
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10380	0.89[YRI][hapmap]
rs1046014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10520874	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs162026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs162028	0.98[ASN][1000 genomes]
rs16879305	0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16879356	0.82[AFR][1000 genomes]
rs2277958	0.81[AFR][1000 genomes]
rs2303081	0.84[AFR][1000 genomes]
rs326118	0.98[ASN][1000 genomes]
rs326210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3776454	0.81[AFR][1000 genomes]
rs41282639	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57937475	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61536869	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72716534	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72716536	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription 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	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2303079	MTRR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7870000-7875400	Weak transcription	Spleen	Spleen
2	chr5:7870200-7875400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:7870200-7875600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:7870200-7875600	Weak transcription	HSMMtube	muscle
5	chr5:7870200-7875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:7870200-7875800	Weak transcription	Esophagus	oesophagus
7	chr5:7870200-7875800	Weak transcription	Gastric	stomach
8	chr5:7870200-7876000	Weak transcription	Fetal Brain Male	brain
9	chr5:7870200-7879800	Weak transcription	Pancreas	Pancrea
10	chr5:7870200-7882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:7870200-7903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:7870400-7875400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:7870400-7875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:7870400-7875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:7870600-7876200	Weak transcription	Fetal Stomach	stomach
16	chr5:7870600-7878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:7870600-7878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:7870800-7875400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:7870800-7875600	Weak transcription	Fetal Brain Female	brain
20	chr5:7870800-7879800	Weak transcription	Colonic Mucosa	Colon
21	chr5:7871000-7875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:7871000-7875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:7871000-7875400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:7871000-7875400	Weak transcription	HUVEC	blood vessel
25	chr5:7871000-7875400	Weak transcription	NH-A	brain
26	chr5:7871000-7875400	Weak transcription	NHLF	lung
27	chr5:7871000-7875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:7871000-7875600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:7871000-7875600	Weak transcription	Ovary	ovary
30	chr5:7871000-7876000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:7871000-7894000	Weak transcription	Fetal Heart	heart
32	chr5:7871200-7875400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:7871200-7903400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:7871200-7903600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:7871200-7903800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:7871400-7877800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:7871400-7878000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:7871400-7902400	Strong transcription	K562	blood
39	chr5:7871400-7903800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:7871600-7875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:7871600-7876600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:7871600-7886800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:7871600-7887200	Strong transcription	Fetal Thymus	thymus
44	chr5:7871600-7887600	Strong transcription	Placenta	Placenta
45	chr5:7871600-7902800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:7871600-7905000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:7871600-7906400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:7871600-7906800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:7871800-7875400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:7871800-7876800	Strong transcription	A549	lung

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