Variant report

Variant	rs71313578
Chromosome Location	chr3:99616881-99616882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99586883..99589677-chr3:99616438..99618388,2	K562	blood:
2	chr3:99595513..99598055-chr3:99616729..99618510,2	K562	blood:
3	chr3:99614799..99616981-chr3:99982145..99984761,2	K562	blood:
4	chr3:99614799..99617137-chr3:99982145..99984761,3	K562	blood:
5	chr3:99616272..99618855-chr3:99619104..99622005,3	MCF-7	breast:
6	chr3:99593363..99597253-chr3:99616411..99618781,5	K562	blood:

Variant related genes	Relation type
ENSG00000168386	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13077700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13082186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13083461	1.00[EUR][1000 genomes]
rs34453501	1.00[AMR][1000 genomes]
rs35410052	1.00[EUR][1000 genomes]
rs35737833	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99614800-99619400	Weak transcription	Psoas Muscle	Psoas
4	chr3:99615000-99619400	Weak transcription	Fetal Lung	lung
5	chr3:99615200-99619400	Weak transcription	Brain Angular Gyrus	brain
6	chr3:99615200-99620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:99615400-99617000	Weak transcription	NHLF	lung
8	chr3:99615400-99618400	Weak transcription	Adipose Nuclei	Adipose
9	chr3:99615400-99618600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:99615400-99619600	Weak transcription	Stomach Mucosa	stomach
11	chr3:99615400-99619600	Weak transcription	HSMMtube	muscle
12	chr3:99615400-99619800	Weak transcription	Fetal Stomach	stomach
13	chr3:99615400-99619800	Enhancers	NHDF-Ad	bronchial
14	chr3:99615400-99620200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:99615600-99617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:99615600-99617800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:99615600-99619200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:99615600-99619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:99615600-99619400	Weak transcription	A549	lung
20	chr3:99615600-99619600	Weak transcription	HSMM	muscle
21	chr3:99615600-99619800	Weak transcription	GM12878-XiMat	blood
22	chr3:99615800-99617800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:99615800-99618400	Weak transcription	NHEK	skin
24	chr3:99615800-99618600	Weak transcription	Hela-S3	cervix
25	chr3:99615800-99619400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:99615800-99619400	Weak transcription	NH-A	brain
27	chr3:99615800-99619400	Weak transcription	Osteobl	bone
28	chr3:99615800-99619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:99615800-99619800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:99615800-99619800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:99616000-99617000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:99616000-99617200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:99616000-99618600	Weak transcription	HMEC	breast
34	chr3:99616000-99619200	Weak transcription	HUVEC	blood vessel
35	chr3:99616000-99619600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:99616000-99620200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:99616000-99620400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
39	chr3:99616200-99619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:99616200-99619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:99616200-99619400	Weak transcription	Brain Germinal Matrix	brain
42	chr3:99616200-99619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:99616400-99617200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:99616400-99619200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:99616400-99619200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:99616600-99618600	Weak transcription	HepG2	liver
47	chr3:99616600-99619600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:99616600-99622800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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