Variant report

Variant	rs862349
Chromosome Location	chr16:69464120-69464121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69456784..69460368-chr16:69461100..69464514,6	K562	blood:
2	chr16:69456892..69460806-chr16:69461558..69466422,8	MCF-7	breast:
3	chr16:69462068..69464563-chr16:69470368..69472006,2	K562	blood:
4	chr16:69457624..69459821-chr16:69462057..69465052,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103018	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11075720	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153058	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs246140	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs246142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs246143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs246144	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs246148	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3743670	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4783708	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499227	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185800	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7206737	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8064195	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69459200-69464400	Weak transcription	Small Intestine	intestine
2	chr16:69459200-69464600	Weak transcription	Pancreas	Pancrea
3	chr16:69459200-69464800	Weak transcription	Lung	lung
4	chr16:69459200-69478000	Weak transcription	Aorta	Aorta
5	chr16:69459400-69469800	Weak transcription	Stomach Mucosa	stomach
6	chr16:69459400-69477800	Weak transcription	Right Ventricle	heart
7	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr16:69459800-69464800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:69459800-69465000	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:69459800-69465600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:69459800-69467800	Weak transcription	Fetal Heart	heart
13	chr16:69459800-69468400	Weak transcription	Psoas Muscle	Psoas
14	chr16:69459800-69469200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:69459800-69469600	Weak transcription	Gastric	stomach
16	chr16:69459800-69469800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:69459800-69473200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:69459800-69477000	Weak transcription	HSMMtube	muscle
19	chr16:69459800-69478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:69460000-69467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:69460200-69468000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:69460600-69464200	Genic enhancers	HepG2	liver
23	chr16:69460800-69465000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:69460800-69466600	Strong transcription	NH-A	brain
25	chr16:69460800-69466800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:69460800-69467000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:69460800-69467000	Strong transcription	Fetal Stomach	stomach
28	chr16:69460800-69467000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:69460800-69467600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:69460800-69467800	Strong transcription	Fetal Intestine Large	intestine
31	chr16:69460800-69468000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:69460800-69468000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:69460800-69468000	Strong transcription	Thymus	Thymus
34	chr16:69460800-69468200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:69460800-69468200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr16:69460800-69470000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:69461000-69467000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:69461000-69467000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:69461000-69467800	Strong transcription	Fetal Thymus	thymus
40	chr16:69461000-69468000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:69461000-69468400	Strong transcription	A549	lung
42	chr16:69461000-69469400	Strong transcription	Placenta	Placenta
43	chr16:69461200-69464400	Strong transcription	HUVEC	blood vessel
44	chr16:69461200-69466000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:69461200-69466200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:69461200-69467200	Strong transcription	Liver	Liver
47	chr16:69461200-69468200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:69461200-69468400	Strong transcription	HSMM	muscle
49	chr16:69461200-69468600	Strong transcription	Dnd41	blood
50	chr16:69461200-69470400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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