Variant report

Variant	rs3766216
Chromosome Location	chr1:47159203-47159204
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	chr1:47153374..47156939-chr1:47157123..47159935,3	K562	blood:
2	chr1:47157744..47160542-chr1:47181134..47183864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159658	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11211305	1.00[CHB][hapmap]
rs12095096	1.00[CHB][hapmap]
rs12096548	1.00[CHB][hapmap]
rs17102361	0.80[AMR][1000 genomes]
rs17102441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102456	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102469	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102487	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17408791	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17415726	0.80[AMR][1000 genomes]
rs17448585	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17448613	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17448647	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3737735	1.00[CHB][hapmap]
rs3766238	1.00[CHB][hapmap]
rs3766239	1.00[CHB][hapmap]
rs4660955	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6703563	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47138200-47159400	Strong transcription	Placenta	Placenta
2	chr1:47138400-47159400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:47139000-47159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:47139200-47159400	Strong transcription	Brain Germinal Matrix	brain
5	chr1:47139200-47159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:47139400-47159600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:47139600-47159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:47142000-47159400	Strong transcription	K562	blood
10	chr1:47142000-47159800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:47142600-47159400	Strong transcription	NHEK	skin
12	chr1:47142800-47159600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:47142800-47159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:47143200-47159400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:47143200-47159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:47143200-47159800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:47143600-47159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:47143800-47159400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:47143800-47159400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:47143800-47159800	Strong transcription	Primary T cells from cord blood	blood
21	chr1:47143800-47171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:47144600-47159600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:47148400-47159400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:47148800-47159400	Strong transcription	Hela-S3	cervix
25	chr1:47153200-47159400	Genic enhancers	Fetal Thymus	thymus
26	chr1:47153400-47159600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:47153600-47159400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:47153600-47159600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:47154000-47159400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:47154000-47159400	Strong transcription	Liver	Liver
31	chr1:47154000-47159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:47154000-47159800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:47154000-47161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:47155600-47161000	Weak transcription	Fetal Brain Male	brain
36	chr1:47155600-47169000	Weak transcription	Stomach Mucosa	stomach
37	chr1:47155800-47159400	Strong transcription	HSMM	muscle
38	chr1:47156200-47159400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:47156200-47160800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:47156600-47161000	Weak transcription	NHDF-Ad	bronchial
41	chr1:47157000-47159400	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:47157200-47159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:47157200-47159800	Strong transcription	Dnd41	blood
44	chr1:47157200-47161000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:47157400-47159400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:47157400-47159600	Enhancers	Fetal Heart	heart
47	chr1:47157600-47159400	Enhancers	Brain Hippocampus Middle	brain
48	chr1:47157600-47160800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:47157600-47160800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:47157600-47160800	Weak transcription	Brain Substantia Nigra	brain

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