Variant report

Variant	rs71414557
Chromosome Location	chr2:55465114-55465115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55464660..55467438-chr2:55495235..55498187,2	K562	blood:
2	chr2:55463258..55466209-chr2:55509433..55511989,3	MCF-7	breast:
3	chr2:55463171..55466180-chr2:55659869..55661423,3	MCF-7	breast:
4	chr2:55464242..55465805-chr2:55843421..55845196,2	MCF-7	breast:
5	chr2:55440554..55442948-chr2:55464620..55466638,2	MCF-7	breast:
6	chr17:56707291..56709390-chr2:55464798..55466329,2	MCF-7	breast:
7	chr2:55274511..55278444-chr2:55462893..55465890,4	K562	blood:
8	chr2:55464205..55466134-chr2:55493979..55496397,3	K562	blood:
9	chr2:55463589..55465767-chr2:55732207..55734884,2	MCF-7	breast:
10	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
11	chr2:55462896..55465238-chr2:55491054..55493846,2	MCF-7	breast:
12	chr2:55275648..55277729-chr2:55462893..55465890,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000085760	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000272606	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1134722	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11686766	0.84[EUR][1000 genomes]
rs11686912	0.84[EUR][1000 genomes]
rs11687876	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12989854	0.84[EUR][1000 genomes]
rs12995548	0.86[EUR][1000 genomes]
rs13000786	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13003020	0.89[EUR][1000 genomes]
rs13012567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014752	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13017468	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2028139	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34447956	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35141050	0.84[EUR][1000 genomes]
rs35183885	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35227659	0.84[EUR][1000 genomes]
rs35700883	0.84[EUR][1000 genomes]
rs36121000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4318424	0.84[EUR][1000 genomes]
rs6742306	0.86[EUR][1000 genomes]
rs6743339	0.86[EUR][1000 genomes]
rs6747466	0.86[EUR][1000 genomes]
rs71414544	0.84[EUR][1000 genomes]
rs71414545	0.84[EUR][1000 genomes]
rs71414546	0.84[EUR][1000 genomes]
rs71414547	0.84[EUR][1000 genomes]
rs71414548	0.84[EUR][1000 genomes]
rs71414549	0.81[EUR][1000 genomes]
rs71414556	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461000-55470200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:55461400-55466600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:55461400-55477600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:55461600-55466600	Strong transcription	Fetal Intestine Large	intestine
5	chr2:55461600-55466600	Strong transcription	HSMMtube	muscle
6	chr2:55461600-55467400	Strong transcription	Adipose Nuclei	Adipose
7	chr2:55461600-55467800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:55461600-55469400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:55461600-55471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:55461600-55477000	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:55461600-55481600	Strong transcription	Fetal Thymus	thymus
12	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
14	chr2:55461800-55465200	Weak transcription	Fetal Stomach	stomach
15	chr2:55461800-55465400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:55461800-55465400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:55461800-55465800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:55461800-55466600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:55461800-55467400	Strong transcription	Liver	Liver
20	chr2:55461800-55467400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:55461800-55472400	Weak transcription	Gastric	stomach
22	chr2:55461800-55472400	Weak transcription	Right Ventricle	heart
23	chr2:55461800-55474400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
26	chr2:55462000-55466600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:55462000-55467200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:55462000-55467400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:55462000-55467600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:55462000-55472600	Weak transcription	Fetal Heart	heart
31	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:55462200-55467600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:55462200-55473200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
35	chr2:55462400-55466600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:55462400-55467000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:55462400-55467200	Strong transcription	HMEC	breast
38	chr2:55462400-55467400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:55462400-55476800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:55462400-55476800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:55462600-55466600	Strong transcription	Primary T cells from cord blood	blood
42	chr2:55462600-55466600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:55462600-55467200	Strong transcription	NHDF-Ad	bronchial
44	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:55462800-55467800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:55463000-55465400	Strong transcription	Brain Germinal Matrix	brain
47	chr2:55463000-55465600	Strong transcription	HUVEC	blood vessel
48	chr2:55463000-55466000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:55463000-55467000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:55463000-55467400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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