Variant report

Variant	rs4930415
Chromosome Location	chr11:66983141-66983142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11227699	0.90[MEX][hapmap]
rs12279818	0.86[ASN][1000 genomes]
rs12285097	1.00[ASN][1000 genomes]
rs12417116	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12417770	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12418591	1.00[EUR][1000 genomes]
rs12419315	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420479	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420763	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421018	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573536	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs17148080	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148183	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs2066494	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4084238	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567468	0.86[ASN][1000 genomes]
rs4930198	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4930411	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58815002	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61525626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61731786	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61759803	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61759806	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7396248	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs887316	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv972951	chr11:66980475-66986736	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 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	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
2	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
3	chr11:66945800-66984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:66948200-66986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66951200-66986600	Weak transcription	Fetal Brain Male	brain
6	chr11:66954000-66984800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:66954600-66993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
9	chr11:66962200-66999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66962600-66995000	Weak transcription	Psoas Muscle	Psoas
11	chr11:66964400-66989400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:66966400-66989400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:66970400-66988800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:66971400-66989200	Strong transcription	Placenta	Placenta
17	chr11:66972400-66989600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:66972600-66987800	Strong transcription	Fetal Stomach	stomach
19	chr11:66972600-66989000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:66972800-66987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:66972800-66988400	Strong transcription	Fetal Intestine Large	intestine
22	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:66973000-66989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:66973400-66988200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:66973800-66987800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:66974400-66988000	Strong transcription	HepG2	liver
28	chr11:66974400-66988200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:66974400-66989000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:66974600-66989400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:66974600-66993000	Strong transcription	Dnd41	blood
32	chr11:66974600-66993200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:66974600-66993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:66974800-66997600	Strong transcription	Fetal Thymus	thymus
35	chr11:66975000-66983800	Strong transcription	Left Ventricle	heart
36	chr11:66975000-66989400	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:66975000-66993200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:66975400-66983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66975400-66984800	Weak transcription	Gastric	stomach
40	chr11:66976400-66993000	Strong transcription	Osteobl	bone
41	chr11:66976600-66986200	Weak transcription	Right Ventricle	heart
42	chr11:66977400-66989200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:66977600-66983800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:66977800-66983200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:66977800-66984800	Weak transcription	Esophagus	oesophagus
46	chr11:66978600-66984800	Weak transcription	Lung	lung
47	chr11:66979600-66985000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:66979600-66986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:66979800-66983400	Weak transcription	Brain Germinal Matrix	brain
50	chr11:66980200-66988000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links