Variant report

Variant	rs2914673
Chromosome Location	chr5:89771964-89771965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:89771943-89772555	K562	blood:	n/a	chr5:89772436-89772447 chr5:89772436-89772447
2	CTCF	chr5:89771940-89772090	HPF	lung:	n/a	n/a
3	RCOR1	chr5:89771952-89772466	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89769110..89772331-chr5:90086907..90091587,4	K562	blood:
2	chr5:89769550..89772254-chr5:89851679..89856622,6	MCF-7	breast:
3	chr5:89770745..89773686-chr5:89789440..89792433,3	K562	blood:
4	chr5:89768855..89773751-chr5:89822671..89829297,12	K562	blood:
5	chr5:89702524..89708084-chr5:89764247..89773389,22	K562	blood:
6	chr5:89767818..89772796-chr5:89823286..89827702,11	MCF-7	breast:
7	chr5:89768584..89771978-chr5:90675764..90678297,3	K562	blood:
8	chr5:89768691..89773005-chr5:89822332..89827140,9	MCF-7	breast:
9	chr5:89766469..89774126-chr5:89823341..89829105,11	K562	blood:
10	chr5:89769121..89772256-chr5:89935164..89938437,4	K562	blood:
11	chr5:89770310..89772686-chr5:89934294..89936742,2	K562	blood:

No data

Variant related genes	Relation type
MBLAC2	TF binding region
ENSG00000255647	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10054133	0.88[ASN][1000 genomes]
rs2963695	0.90[ASN][1000 genomes]
rs2963696	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2972966	1.00[JPT][hapmap]
rs3112538	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35113527	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35869007	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129345	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7700312	0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv518131	chr5:89748142-89781594	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv882364	chr5:89748142-89808531	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89768600-89772000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:89768800-89772000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:89768800-89773200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:89768800-89773400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:89769000-89772000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:89769000-89772400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:89769200-89772000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:89769200-89772000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:89769200-89772200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:89769200-89772400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:89769200-89773800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:89769400-89772000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:89769600-89772000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:89770600-89773400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:89771200-89772000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:89771200-89772000	Enhancers	Brain Angular Gyrus	brain
17	chr5:89771200-89772000	Active TSS	K562	blood
18	chr5:89771200-89772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:89771200-89772600	Enhancers	Brain Anterior Caudate	brain
20	chr5:89771200-89772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:89771200-89772800	Weak transcription	Liver	Liver
22	chr5:89771200-89772800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:89771200-89773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:89771200-89773000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:89771200-89773000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:89771200-89773000	Enhancers	Brain Substantia Nigra	brain
27	chr5:89771200-89773400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:89771200-89773400	Weak transcription	Adipose Nuclei	Adipose
29	chr5:89771200-89773400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:89771200-89773800	Enhancers	HepG2	liver
31	chr5:89771200-89784000	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:89771200-89788600	Weak transcription	Psoas Muscle	Psoas
33	chr5:89771200-89796200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:89771400-89772000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:89771400-89772000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:89771400-89772400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:89771600-89772000	Enhancers	GM12878-XiMat	blood
38	chr5:89771600-89772000	Weak transcription	Hela-S3	cervix
39	chr5:89771600-89772200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:89771600-89772200	Enhancers	Osteobl	bone
41	chr5:89771600-89772400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:89771600-89772800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:89771600-89772800	Enhancers	Dnd41	blood
44	chr5:89771600-89773000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:89771600-89773000	Weak transcription	NHLF	lung
46	chr5:89771600-89773400	Weak transcription	HMEC	breast
47	chr5:89771600-89773800	Weak transcription	NHDF-Ad	bronchial
48	chr5:89771600-89774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:89771600-89774000	Enhancers	HUVEC	blood vessel
50	chr5:89771600-89775200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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