Variant report

Variant	rs246148
Chromosome Location	chr16:69466819-69466820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69457470..69459151-chr16:69466076..69468637,2	K562	blood:

Variant related genes	Relation type
ENSG00000103018	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11075720	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153058	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246132	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs246138	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246140	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246142	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246143	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246144	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743670	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4783708	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499227	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7185800	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206737	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064195	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs862349	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs246148	RP11-140H17.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69459200-69478000	Weak transcription	Aorta	Aorta
2	chr16:69459400-69469800	Weak transcription	Stomach Mucosa	stomach
3	chr16:69459400-69477800	Weak transcription	Right Ventricle	heart
4	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:69459800-69467800	Weak transcription	Fetal Heart	heart
7	chr16:69459800-69468400	Weak transcription	Psoas Muscle	Psoas
8	chr16:69459800-69469200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:69459800-69469600	Weak transcription	Gastric	stomach
10	chr16:69459800-69469800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:69459800-69473200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:69459800-69477000	Weak transcription	HSMMtube	muscle
13	chr16:69459800-69478800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:69460000-69467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:69460200-69468000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:69460800-69467000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:69460800-69467000	Strong transcription	Fetal Stomach	stomach
18	chr16:69460800-69467000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:69460800-69467600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr16:69460800-69467800	Strong transcription	Fetal Intestine Large	intestine
21	chr16:69460800-69468000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr16:69460800-69468000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr16:69460800-69468000	Strong transcription	Thymus	Thymus
24	chr16:69460800-69468200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:69460800-69468200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr16:69460800-69470000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:69461000-69467000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:69461000-69467000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:69461000-69467800	Strong transcription	Fetal Thymus	thymus
30	chr16:69461000-69468000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:69461000-69468400	Strong transcription	A549	lung
32	chr16:69461000-69469400	Strong transcription	Placenta	Placenta
33	chr16:69461200-69467200	Strong transcription	Liver	Liver
34	chr16:69461200-69468200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:69461200-69468400	Strong transcription	HSMM	muscle
36	chr16:69461200-69468600	Strong transcription	Dnd41	blood
37	chr16:69461200-69470400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:69461400-69467600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:69461400-69467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr16:69461400-69468200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr16:69461400-69468600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:69461600-69467600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:69461600-69468000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:69461800-69468000	Strong transcription	Adipose Nuclei	Adipose
45	chr16:69462000-69467600	Strong transcription	Primary T cells from cord blood	blood
46	chr16:69462400-69468000	Strong transcription	NHDF-Ad	bronchial
47	chr16:69463000-69467800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:69463000-69467800	Strong transcription	Fetal Muscle Leg	muscle
49	chr16:69463000-69469200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:69463000-69473200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links