Variant report

Variant	rs17051240
Chromosome Location	chr4:121669978-121669979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10006287	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10026533	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1015219	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs1033096	0.84[ASN][1000 genomes]
rs10518380	0.92[JPT][hapmap]
rs11943025	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs12499586	0.88[EUR][1000 genomes]
rs12499872	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs12507367	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12513227	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs12639772	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12644850	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1397768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397771	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1397773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1397774	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1450461	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs1463785	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1496260	0.84[ASN][1000 genomes]
rs1511302	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1588524	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs1597491	0.89[JPT][hapmap]
rs168226	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs17051244	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17051252	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17051254	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17051259	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17051275	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs171068	0.80[AMR][1000 genomes]
rs1809075	0.80[AMR][1000 genomes]
rs1849075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1849076	0.83[ASN][1000 genomes]
rs2136999	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2167208	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2667171	0.80[AMR][1000 genomes]
rs28488919	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28810489	0.80[AMR][1000 genomes]
rs343182	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs343185	1.00[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes]
rs343189	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs3789139	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804170	0.83[EUR][1000 genomes]
rs3827584	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4833182	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4833670	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4833671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833672	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833689	0.93[JPT][hapmap]
rs6813562	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6855578	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs72678303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72678319	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72678324	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72678335	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72680418	0.83[AMR][1000 genomes]
rs896060	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
2	chr4:121630000-121671400	Weak transcription	Ovary	ovary
3	chr4:121641200-121670400	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:121642800-121670600	Weak transcription	Fetal Stomach	stomach
5	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
6	chr4:121647400-121670600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:121648200-121671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:121648200-121671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:121648400-121670600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:121649600-121670800	Weak transcription	Fetal Intestine Large	intestine
11	chr4:121652000-121673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:121652400-121670800	Weak transcription	Right Ventricle	heart
13	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:121653200-121671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:121653200-121672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:121656000-121670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:121658800-121670600	Weak transcription	Aorta	Aorta
18	chr4:121658800-121671400	Weak transcription	Left Ventricle	heart
19	chr4:121661600-121670800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:121662400-121673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:121663000-121670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:121663000-121672000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:121664000-121671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:121665800-121671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:121668200-121671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:121668400-121690400	Weak transcription	Osteobl	bone
27	chr4:121668600-121673600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr4:121669200-121672200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr4:121669400-121670000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr4:121669400-121672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:121669600-121670800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:121669600-121670800	Enhancers	Fetal Thymus	thymus
33	chr4:121669600-121671000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:121669600-121671200	Strong transcription	Fetal Intestine Small	intestine
35	chr4:121669800-121670000	Enhancers	Rectal Mucosa Donor 29	rectum

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