Variant report

Variant	rs1415541
Chromosome Location	chr1:47974992-47974993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10158498	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10158499	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10749868	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10890483	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890484	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890485	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890487	0.81[ASN][1000 genomes]
rs12143164	0.80[ASN][1000 genomes]
rs1337527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1337528	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1415540	0.81[ASN][1000 genomes]
rs1572547	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1572548	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065946	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065947	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065948	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs498352	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs502997	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs512014	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs513464	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517384	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518025	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs570605	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs578633	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs647932	0.91[ASN][1000 genomes]
rs663650	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693428	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7517146	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528714	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7537527	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7540974	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7543774	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7544826	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547288	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552647	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7555100	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47973200-47975000	Enhancers	Lung	lung
2	chr1:47973400-47975200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:47973400-47975400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:47973600-47975000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:47974000-47975000	Bivalent Enhancer	Fetal Brain Male	brain
6	chr1:47974200-47975000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
7	chr1:47974200-47975000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:47974400-47975000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:47974400-47975000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr1:47974400-47975000	Bivalent Enhancer	HepG2	liver
11	chr1:47974600-47975000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:47974600-47975000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:47974600-47975000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:47974600-47975000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr1:47974600-47975000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr1:47974600-47975000	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr1:47974600-47975000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
18	chr1:47974600-47975000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr1:47974600-47975000	Bivalent Enhancer	Fetal Stomach	stomach
20	chr1:47974600-47975200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr1:47974800-47975000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:47974800-47975000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr1:47974800-47975000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:47974800-47975000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:47974800-47975000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:47974800-47975000	Enhancers	Colonic Mucosa	Colon
27	chr1:47974800-47975000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:47974800-47975000	Bivalent/Poised TSS	Right Ventricle	heart
29	chr1:47974800-47975200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr1:47974800-47975200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr1:47974800-47975200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:47974800-47975200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:47974800-47975200	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr1:47974800-47975200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr1:47974800-47975400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:47974800-47975400	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr1:47974800-47975800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:47974800-47975800	Enhancers	Liver	Liver

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