Variant report

Variant	rs1294671
Chromosome Location	chr4:106657151-106657152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10017111	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10023798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10032269	1.00[JPT][hapmap]
rs10516520	1.00[JPT][hapmap]
rs10516521	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10516524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097896	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721732	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11721842	1.00[JPT][hapmap]
rs11730825	1.00[JPT][hapmap]
rs1294668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1294672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447097	1.00[JPT][hapmap]
rs17035915	1.00[JPT][hapmap]
rs17035936	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17035939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17035951	1.00[JPT][hapmap]
rs17259503	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs17259931	1.00[JPT][hapmap]
rs17260120	1.00[JPT][hapmap]
rs17260183	1.00[JPT][hapmap]
rs17260856	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17261786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17262443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17262457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17263714	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17264527	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17325276	1.00[JPT][hapmap]
rs1862081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1982346	0.88[ASN][1000 genomes]
rs2080788	1.00[YRI][hapmap]
rs2098571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2112047	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2112049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2193855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2193856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2193857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2216516	0.94[ASN][1000 genomes]
rs2256746	0.94[ASN][1000 genomes]
rs2305212	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2544396	1.00[YRI][hapmap]
rs2544399	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544401	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2544402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2544403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544414	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544417	0.82[GIH][hapmap];0.94[ASN][1000 genomes]
rs2544418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2544422	1.00[YRI][hapmap]
rs2544424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2544426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2544429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544430	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553451	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553452	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2553464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553467	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553469	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553471	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866781	1.00[CEU][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3796923	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3943980	0.94[ASN][1000 genomes]
rs4324546	1.00[JPT][hapmap]
rs4324547	1.00[JPT][hapmap]
rs4326019	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4407508	1.00[JPT][hapmap]
rs4588463	1.00[JPT][hapmap]
rs56843185	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833345	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs73837092	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73837096	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73839004	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839008	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839010	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7676226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681991	1.00[JPT][hapmap]
rs7687176	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7698817	1.00[JPT][hapmap]
rs961472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs961473	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 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	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
3	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:106631400-106658800	Weak transcription	A549	lung
7	chr4:106634000-106693200	Weak transcription	K562	blood
8	chr4:106635600-106658400	Weak transcription	Osteobl	bone
9	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
10	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
14	chr4:106645400-106658800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:106648000-106669800	Weak transcription	HSMM	muscle
16	chr4:106648200-106658800	Weak transcription	Fetal Brain Male	brain
17	chr4:106652200-106657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:106654400-106659600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:106654600-106660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr4:106655600-106657800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr4:106655600-106658000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr4:106655600-106659400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr4:106655600-106659800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr4:106655800-106657200	ZNF genes & repeats	Fetal Brain Female	brain
25	chr4:106655800-106658400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:106655800-106659400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr4:106656000-106658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:106656200-106657200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr4:106656200-106657600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:106656200-106658400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:106656200-106659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr4:106656200-106659400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr4:106656400-106659400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:106656600-106659600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:106656800-106657200	ZNF genes & repeats	Dnd41	blood
36	chr4:106656800-106657200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr4:106657000-106657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:106657000-106658000	Weak transcription	Adipose Nuclei	Adipose
39	chr4:106657000-106658600	Weak transcription	Aorta	Aorta
40	chr4:106657000-106658800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:106657000-106658800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:106657000-106658800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:106657000-106658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:106657000-106659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:106657000-106659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:106657000-106659000	Weak transcription	Esophagus	oesophagus
47	chr4:106657000-106659000	Weak transcription	Fetal Stomach	stomach
48	chr4:106657000-106660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:106657000-106660800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:106657000-106660800	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links