Variant report

Variant	rs56222754
Chromosome Location	chr16:71491806-71491807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
2	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
3	chr16:71490795..71493045-chr16:71503672..71506458,2	K562	blood:
4	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
5	chr16:71486185..71488004-chr16:71489030..71491841,2	K562	blood:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000247324	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10468265	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866859	1.00[ASN][1000 genomes]
rs12918320	0.81[EUR][1000 genomes]
rs13336809	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972266	1.00[ASN][1000 genomes]
rs16972805	1.00[ASN][1000 genomes]
rs16972808	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973000	1.00[ASN][1000 genomes]
rs16973112	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973190	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973286	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1804984	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2052873	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821244	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59364668	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61171207	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499521	0.83[EUR][1000 genomes]
rs7188021	1.00[ASN][1000 genomes]
rs7197127	1.00[ASN][1000 genomes]
rs72791971	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791974	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72795864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795867	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72795869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795881	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797728	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8044168	1.00[ASN][1000 genomes]
rs8049040	1.00[ASN][1000 genomes]
rs8050135	1.00[ASN][1000 genomes]
rs8051439	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056735	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940485	1.00[ASN][1000 genomes]
rs9989376	0.89[EUR][1000 genomes]
rs9989377	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56222754	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71481600-71493000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
3	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
4	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:71486800-71494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:71487200-71493800	Weak transcription	Fetal Brain Male	brain
7	chr16:71487200-71494200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:71487200-71494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:71487200-71495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:71487200-71495400	Weak transcription	Stomach Mucosa	stomach
11	chr16:71487600-71494800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71487600-71494800	Weak transcription	K562	blood
13	chr16:71487800-71493800	Weak transcription	Dnd41	blood
14	chr16:71487800-71494600	Weak transcription	Hela-S3	cervix
15	chr16:71487800-71494800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:71488000-71494400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:71488000-71494800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:71488000-71495000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:71488000-71495400	Weak transcription	Fetal Thymus	thymus
20	chr16:71488200-71495400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:71488600-71495400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:71489000-71493800	Weak transcription	HMEC	breast
23	chr16:71489000-71495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:71489000-71495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:71489200-71493800	Weak transcription	HepG2	liver
26	chr16:71489200-71495200	Weak transcription	Thymus	Thymus
27	chr16:71489400-71495200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:71489600-71492200	Strong transcription	Fetal Stomach	stomach
29	chr16:71489600-71495400	Weak transcription	Small Intestine	intestine
30	chr16:71489800-71495400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:71490000-71492200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:71490000-71493200	Weak transcription	NH-A	brain
33	chr16:71490200-71494000	Weak transcription	NHEK	skin
34	chr16:71490200-71494200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr16:71490200-71494800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr16:71490200-71495200	Weak transcription	Fetal Kidney	kidney
37	chr16:71490400-71493600	Weak transcription	Osteobl	bone
38	chr16:71490400-71493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:71490400-71494400	Weak transcription	Primary B cells from cord blood	blood
40	chr16:71490400-71494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:71490400-71495200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:71490400-71495400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr16:71490400-71495400	Weak transcription	Placenta	Placenta
44	chr16:71490600-71492600	Strong transcription	Ovary	ovary
45	chr16:71490600-71493400	Weak transcription	GM12878-XiMat	blood
46	chr16:71490600-71494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:71490600-71494600	Weak transcription	Adipose Nuclei	Adipose
48	chr16:71490600-71494600	Weak transcription	A549	lung
49	chr16:71490600-71494800	Weak transcription	Primary T cells from cord blood	blood
50	chr16:71490600-71495000	Weak transcription	Primary B cells from peripheral blood	blood

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