Variant report

Variant	rs73333442
Chromosome Location	chr5:126116640-126116641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126116569-126116895	GM12892	blood:	n/a	n/a
2	CTCF	chr5:126115706-126116986	A549	lung:	n/a	n/a
3	POLR2A	chr5:126116585-126116883	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:126116592-126116978	K562	blood:	n/a	n/a
5	CTCF	chr5:126115725-126116828	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:125877878..125880557-chr5:126115918..126118031,2	MCF-7	breast:
2	chr5:126111234..126115600-chr5:126116361..126125062,16	K562	blood:
3	chr5:125991322..125992730-chr5:126115619..126116664,5	K562	blood:
4	chr5:126116007..126118146-chr5:126123068..126125342,2	K562	blood:
5	chr5:125928101..125931036-chr5:126115969..126118451,2	MCF-7	breast:
6	chr5:125990916..125992707-chr5:126114445..126117654,3	K562	blood:
7	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
8	chr5:126112480..126114366-chr5:126115512..126117384,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251072	TF binding region
ENSG00000252185	Chromatin interaction
ENSG00000164904	Chromatin interaction
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56893573	1.00[AMR][1000 genomes]
rs57813213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59087318	1.00[AMR][1000 genomes]
rs61089732	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61548555	1.00[AMR][1000 genomes]
rs61661009	1.00[AMR][1000 genomes]
rs73333414	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333434	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333456	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333497	1.00[AMR][1000 genomes]
rs7731899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7731916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732208	0.93[AFR][1000 genomes];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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126113000-126117000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:126114600-126116800	Weak transcription	Right Atrium	heart
3	chr5:126114600-126118600	Weak transcription	Gastric	stomach
4	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
6	chr5:126114600-126161600	Weak transcription	Ovary	ovary
7	chr5:126114800-126116800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:126115000-126116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:126115000-126116800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:126115200-126118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:126115200-126122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:126115200-126123600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:126115200-126123600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:126115800-126116800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:126115800-126116800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:126115800-126137400	Weak transcription	HSMM	muscle
19	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:126116000-126117000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:126116000-126119400	Weak transcription	HMEC	breast
22	chr5:126116000-126123800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
24	chr5:126116200-126116800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr5:126116200-126116800	Enhancers	Hela-S3	cervix
26	chr5:126116200-126117000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:126116200-126117000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr5:126116200-126117200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:126116200-126117800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:126116200-126117800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:126116400-126116800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:126116400-126116800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:126116400-126116800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:126116400-126116800	Enhancers	HUVEC	blood vessel
35	chr5:126116400-126117000	Enhancers	Fetal Brain Male	brain
36	chr5:126116400-126117000	Flanking Active TSS	GM12878-XiMat	blood
37	chr5:126116400-126117000	Enhancers	Osteobl	bone
38	chr5:126116400-126117200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:126116400-126117200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr5:126116400-126117400	Weak transcription	K562	blood
41	chr5:126116400-126117600	Weak transcription	Fetal Heart	heart
42	chr5:126116400-126117600	Weak transcription	NHDF-Ad	bronchial
43	chr5:126116400-126117800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:126116400-126118000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:126116400-126119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:126116400-126119600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:126116400-126122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:126116400-126122200	Weak transcription	Fetal Kidney	kidney
49	chr5:126116400-126123600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:126116400-126123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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