Variant report

Variant	rs16831149
Chromosome Location	chr3:159976271-159976272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159973891..159976854-chr3:159989375..159990947,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10936199	0.94[ASW][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs11929258	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2275150	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2278848	1.00[JPT][hapmap]
rs3773370	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4679879	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs4679880	0.94[ASW][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs56804721	1.00[ASN][1000 genomes]
rs57843971	0.94[AFR][1000 genomes]
rs61269120	0.90[AFR][1000 genomes]
rs6441310	1.00[ASN][1000 genomes]
rs6764227	1.00[ASN][1000 genomes]
rs6767102	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6773856	1.00[CHD][hapmap]
rs6778728	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs6791567	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6808628	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73154538	0.90[ASN][1000 genomes]
rs73875248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877699	chr3:159820488-159976271	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
5	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159971400-160035800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:159971800-159977000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:159971800-159986200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:159971800-160009600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:159972400-159984800	Weak transcription	Ovary	ovary
6	chr3:159972600-160009400	Weak transcription	Fetal Stomach	stomach
7	chr3:159972800-159977000	Weak transcription	Left Ventricle	heart
8	chr3:159972800-159999000	Weak transcription	Aorta	Aorta
9	chr3:159973200-159984200	Weak transcription	Thymus	Thymus
10	chr3:159973400-159994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:159973600-159977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:159974000-159977000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:159974000-159984400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:159974200-159976400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:159974200-159978200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:159974200-159992000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:159974200-160038000	Weak transcription	Fetal Brain Male	brain
18	chr3:159974400-159984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:159974600-159991600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:159974600-159992200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:159974600-159999600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:159974800-159984600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:159974800-160014400	Weak transcription	HSMM	muscle
24	chr3:159975000-159991600	Weak transcription	Dnd41	blood
25	chr3:159975000-160025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:159975000-160028000	Weak transcription	Brain Anterior Caudate	brain
27	chr3:159975000-160034200	Weak transcription	Fetal Intestine Large	intestine
28	chr3:159975200-159980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:159975200-159994400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:159975200-160036000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:159975400-159976400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:159975400-159977400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:159975400-159993800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:159975600-159976400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:159975600-159976600	Strong transcription	Primary B cells from cord blood	blood
36	chr3:159975600-159977400	Weak transcription	Osteobl	bone
37	chr3:159975600-160009600	Weak transcription	Fetal Intestine Small	intestine
38	chr3:159975600-160046600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:159975800-159976400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:159975800-159977200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:159975800-159977800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:159976000-159977000	Weak transcription	Liver	Liver
43	chr3:159976000-159977000	Strong transcription	Fetal Thymus	thymus
44	chr3:159976200-159976600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:159976200-159977600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:159976200-160039000	Weak transcription	Brain Cingulate Gyrus	brain

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