Variant report

Variant	rs16957299
Chromosome Location	chr17:46550362-46550363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46549355..46551508-chr17:46558983..46560720,2	K562	blood:
2	chr17:46541136..46543467-chr17:46547633..46550633,3	K562	blood:
3	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:
4	chr17:46549229..46552170-chr17:46578852..46580866,2	MCF-7	breast:
5	chr17:46547456..46550556-chr17:46552123..46556741,6	K562	blood:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514944	1.00[GIH][hapmap];1.00[LWK][hapmap]
rs1396869	0.81[ASN][1000 genomes]
rs16942817	1.00[ASW][hapmap]
rs16955960	1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.87[AFR][1000 genomes]
rs16956501	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs16957085	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17623518	1.00[GIH][hapmap];0.88[MKK][hapmap];0.87[AFR][1000 genomes]
rs2175156	0.87[AFR][1000 genomes]
rs2271264	0.88[ASN][1000 genomes]
rs34463696	0.90[ASN][1000 genomes]
rs3760513	0.81[CHB][hapmap]
rs3809744	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs55751709	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs55765969	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56011283	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56103412	0.84[ASN][1000 genomes]
rs56311919	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56371910	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs72827869	0.83[ASN][1000 genomes]
rs72827873	0.88[ASN][1000 genomes]
rs72827897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8844	1.00[ASW][hapmap]
rs9899997	0.93[CHB][hapmap];1.00[GIH][hapmap];0.84[ASN][1000 genomes]
rs9907565	0.92[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9913716	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46547400-46551600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:46547600-46550600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr17:46547600-46550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr17:46547800-46550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr17:46547800-46550800	Enhancers	NHDF-Ad	bronchial
6	chr17:46547800-46551000	Enhancers	HMEC	breast
7	chr17:46548200-46550800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr17:46548200-46551000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:46548400-46550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr17:46548400-46550600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:46548400-46550800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:46548600-46550600	Enhancers	K562	blood
13	chr17:46548600-46550600	Enhancers	NHLF	lung
14	chr17:46548600-46550800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr17:46548600-46550800	Enhancers	NHEK	skin
16	chr17:46548800-46550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:46548800-46550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46549000-46550400	Enhancers	GM12878-XiMat	blood
19	chr17:46549000-46550600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:46549000-46550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:46549200-46550600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr17:46549200-46550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:46549200-46550600	Bivalent Enhancer	Fetal Kidney	kidney
24	chr17:46549200-46550800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:46549200-46550800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:46549200-46550800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr17:46549400-46550400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr17:46549400-46550600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:46549400-46550600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr17:46549400-46550800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:46549400-46550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:46549400-46550800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:46549400-46550800	Enhancers	NH-A	brain
34	chr17:46549400-46551000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:46549400-46551000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:46549600-46550400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:46549600-46550800	Enhancers	A549	lung
38	chr17:46549600-46550800	Enhancers	Osteobl	bone
39	chr17:46549800-46550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr17:46549800-46550400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:46549800-46550600	Enhancers	HSMMtube	muscle
42	chr17:46549800-46550800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:46549800-46550800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:46549800-46550800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:46550000-46550400	Enhancers	Primary hematopoietic stem cells	blood
46	chr17:46550000-46550600	Bivalent Enhancer	Hela-S3	cervix
47	chr17:46550000-46550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:46550200-46550600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr17:46550200-46551400	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links