Variant report

Variant	rs6419615
Chromosome Location	chr2:47152291-47152292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47151428..47156852-chr2:47167376..47169782,7	MCF-7	breast:
2	chr2:47151389..47153725-chr2:47165504..47168993,3	K562	blood:
3	chr2:47152234..47154718-chr2:47163994..47166479,3	MCF-7	breast:
4	chr2:47152236..47154946-chr2:47158648..47161233,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1051317	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12621059	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082562	0.89[YRI][hapmap]
rs2117168	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62140549	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6544941	0.88[EUR][1000 genomes]
rs6753628	0.89[YRI][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47153000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:47144200-47153200	Weak transcription	Fetal Stomach	stomach
3	chr2:47144200-47153800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:47144200-47154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:47144200-47155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:47144200-47157200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
8	chr2:47144400-47153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:47144400-47153000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:47144400-47154400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:47144600-47153000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:47144600-47153000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
14	chr2:47144800-47153200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:47144800-47153400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
17	chr2:47145200-47153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:47145200-47153400	Weak transcription	Fetal Heart	heart
19	chr2:47145800-47153400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:47146200-47153200	Weak transcription	K562	blood
22	chr2:47147000-47153400	Weak transcription	Primary B cells from cord blood	blood
23	chr2:47147200-47153200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:47147200-47153200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:47148600-47152800	Enhancers	Fetal Thymus	thymus
26	chr2:47149200-47153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:47149600-47153600	Enhancers	Dnd41	blood
28	chr2:47149800-47153400	Enhancers	Thymus	Thymus
29	chr2:47150400-47153200	Weak transcription	NH-A	brain
30	chr2:47150600-47153000	Weak transcription	HMEC	breast
31	chr2:47150600-47153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:47150600-47153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:47150600-47156600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:47150800-47152600	Enhancers	Placenta	Placenta
37	chr2:47150800-47152800	Weak transcription	Hela-S3	cervix
38	chr2:47150800-47152800	Weak transcription	NHEK	skin
39	chr2:47150800-47153200	Weak transcription	Osteobl	bone
40	chr2:47150800-47157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:47151000-47153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:47151000-47153200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
44	chr2:47151400-47153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:47151600-47153200	Weak transcription	HepG2	liver
46	chr2:47151600-47153800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr2:47151800-47153800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:47152000-47153800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:47152200-47153000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:47152200-47153200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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