Variant report

Variant	rs12918548
Chromosome Location	chr16:69739231-69739232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69734561..69737941-chr16:69738671..69742586,5	MCF-7	breast:
2	chr16:69738078..69740268-chr16:69746571..69749474,3	K562	blood:
3	chr16:69738931..69740863-chr16:69751048..69753277,2	K562	blood:

Variant related genes	Relation type
ENSG00000260772	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11075729	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11640319	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921782	0.81[ASN][1000 genomes]
rs12924052	0.81[ASN][1000 genomes]
rs12933210	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437134	0.81[AFR][1000 genomes]
rs1469908	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1837016	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017448	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161630	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2917670	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2917671	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2917677	0.81[AFR][1000 genomes]
rs2917678	0.81[ASN][1000 genomes]
rs2965749	0.81[ASN][1000 genomes]
rs3848278	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45488899	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4633710	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55780735	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499241	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499244	0.81[AFR][1000 genomes]
rs7187634	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7189878	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7191292	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192380	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7192543	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7205551	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7359336	0.83[AFR][1000 genomes]
rs8045432	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8049728	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8055756	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8061052	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938213	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv906822	chr16:69711533-69745145	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69708800-69739600	Strong transcription	Placenta	Placenta
2	chr16:69709000-69739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:69709400-69755400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:69722800-69739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:69726000-69755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:69726600-69759800	Weak transcription	Psoas Muscle	Psoas
7	chr16:69726800-69747600	Weak transcription	Fetal Heart	heart
8	chr16:69728200-69746200	Weak transcription	Stomach Mucosa	stomach
9	chr16:69728200-69758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:69728400-69740200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:69728400-69744200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:69728400-69748800	Weak transcription	Gastric	stomach
13	chr16:69728400-69759200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:69728600-69752000	Weak transcription	Fetal Brain Male	brain
15	chr16:69729200-69739800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:69729200-69745000	Weak transcription	Spleen	Spleen
17	chr16:69729400-69741400	Weak transcription	Lung	lung
18	chr16:69729400-69741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:69729400-69743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:69729400-69744800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:69729400-69745000	Weak transcription	Pancreas	Pancrea
22	chr16:69729400-69760000	Weak transcription	Brain Germinal Matrix	brain
23	chr16:69729400-69760000	Weak transcription	Ovary	ovary
24	chr16:69729600-69740800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:69729600-69745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:69729800-69746200	Weak transcription	Aorta	Aorta
27	chr16:69729800-69746200	Weak transcription	Left Ventricle	heart
28	chr16:69729800-69748800	Weak transcription	Esophagus	oesophagus
29	chr16:69730000-69739400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:69730000-69740600	Weak transcription	Small Intestine	intestine
31	chr16:69730000-69743400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:69730000-69743400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:69730000-69743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:69730000-69745200	Weak transcription	Thymus	Thymus
35	chr16:69730000-69745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:69730000-69759000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:69730200-69742600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:69730200-69743400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:69730200-69743400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:69730200-69746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:69730400-69740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:69730400-69741800	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:69730400-69744800	Weak transcription	Colonic Mucosa	Colon
44	chr16:69730400-69747000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:69730600-69743600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr16:69730600-69759800	Weak transcription	Fetal Brain Female	brain
47	chr16:69730800-69744600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:69730800-69759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr16:69731000-69746000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:69731600-69743600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links