Variant report

Variant	rs16866491
Chromosome Location	chr3:191060021-191060022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:
2	chr3:191059991..191062232-chr3:191093910..191095757,2	MCF-7	breast:
3	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12636442	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12636482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018996	0.94[ASN][1000 genomes]
rs293799	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs293843	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs293847	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs297370	0.92[ASN][1000 genomes]
rs366693	0.92[ASN][1000 genomes]
rs3796221	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3796222	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs485788	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs510014	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56772293	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs574206	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs58266557	0.96[ASN][1000 genomes]
rs61177977	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6789446	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs695879	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73888563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv461049	chr3:191059322-191069984	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv592819	chr3:191059322-191069984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
3	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas
4	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:191050600-191060400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:191051200-191060200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:191051400-191060200	Weak transcription	Brain Anterior Caudate	brain
8	chr3:191051400-191060200	Weak transcription	Right Ventricle	heart
9	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:191055600-191062000	Enhancers	HepG2	liver
12	chr3:191056000-191061000	Enhancers	Liver	Liver
13	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
14	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:191057600-191060400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:191057600-191060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:191057600-191060400	Weak transcription	Primary B cells from cord blood	blood
20	chr3:191057600-191060800	Weak transcription	NH-A	brain
21	chr3:191057800-191060200	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:191057800-191060400	Weak transcription	NHDF-Ad	bronchial
23	chr3:191057800-191060800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:191057800-191061600	Weak transcription	K562	blood
25	chr3:191057800-191061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
27	chr3:191058000-191060600	Weak transcription	NHEK	skin
28	chr3:191058200-191060800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:191058400-191061400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:191058600-191061000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:191058600-191061000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:191058600-191061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:191058800-191060400	Weak transcription	Pancreas	Pancrea
34	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
35	chr3:191059000-191060400	Weak transcription	Left Ventricle	heart
36	chr3:191059000-191060400	Weak transcription	Ovary	ovary
37	chr3:191059200-191060600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:191059200-191061000	Enhancers	A549	lung
39	chr3:191059200-191061400	Enhancers	HUVEC	blood vessel
40	chr3:191059200-191061600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:191059200-191061800	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:191059200-191062200	Enhancers	Osteobl	bone
45	chr3:191059200-191063400	Enhancers	Adipose Nuclei	Adipose
46	chr3:191059400-191061000	Enhancers	Right Atrium	heart
47	chr3:191059400-191061200	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:191059400-191062000	Enhancers	NHLF	lung
49	chr3:191059400-191062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:191059400-191063600	Enhancers	Fetal Heart	heart

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