Variant report

Variant	rs7146748
Chromosome Location	chr14:55747086-55747087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55744665..55747736-chr14:55876454..55880183,3	MCF-7	breast:
2	chr14:55738364..55741080-chr14:55745206..55748486,4	MCF-7	breast:
3	chr14:55742882..55744479-chr14:55746766..55748710,2	K562	blood:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10131913	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131926	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10139083	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10139337	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10139678	0.92[EUR][1000 genomes]
rs10140801	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10140869	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10141483	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141552	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142547	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142803	0.83[ASN][1000 genomes]
rs10142823	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10143136	0.83[ASN][1000 genomes]
rs10144345	0.83[EUR][1000 genomes]
rs10145203	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10146637	0.83[ASN][1000 genomes]
rs10149420	0.83[EUR][1000 genomes]
rs10150699	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10467798	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1109170	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158034	0.82[ASN][1000 genomes]
rs11547116	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625001	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625423	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11625968	0.84[ASN][1000 genomes]
rs11628437	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11848456	0.83[ASN][1000 genomes]
rs11848575	0.83[ASN][1000 genomes]
rs12050099	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13379169	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128440	0.82[EUR][1000 genomes]
rs17740551	0.82[ASN][1000 genomes]
rs17740741	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1815581	0.80[EUR][1000 genomes]
rs1952087	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2009291	0.82[EUR][1000 genomes]
rs2075601	0.80[AMR][1000 genomes]
rs2075602	0.80[AMR][1000 genomes]
rs2182797	0.84[ASN][1000 genomes]
rs2341621	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2341622	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28504448	0.81[EUR][1000 genomes]
rs28568813	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28631821	0.83[EUR][1000 genomes]
rs28716725	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783650	0.83[EUR][1000 genomes]
rs3825616	0.82[EUR][1000 genomes]
rs4366639	0.90[EUR][1000 genomes]
rs4496026	0.90[EUR][1000 genomes]
rs4519260	0.82[AMR][1000 genomes]
rs4597235	0.83[EUR][1000 genomes]
rs56270323	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56949365	0.89[EUR][1000 genomes]
rs58260073	0.94[EUR][1000 genomes]
rs58458194	0.81[ASN][1000 genomes]
rs59629906	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59871474	0.92[EUR][1000 genomes]
rs60248556	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61210954	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573009	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573010	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573012	0.85[AMR][1000 genomes]
rs6573014	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573017	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66464079	0.81[ASN][1000 genomes]
rs66486619	0.81[EUR][1000 genomes]
rs66696758	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67386901	0.82[ASN][1000 genomes]
rs67514154	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67822108	0.83[ASN][1000 genomes]
rs68046603	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140628	0.81[ASN][1000 genomes]
rs7142857	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7144292	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7146752	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148171	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153110	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7153612	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7153645	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154889	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7155954	0.82[ASN][1000 genomes]
rs7158768	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158861	0.82[EUR][1000 genomes]
rs7159144	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7159808	0.80[AMR][1000 genomes]
rs72715769	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004787	0.80[AMR][1000 genomes]
rs8006525	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8011288	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018110	0.84[AMR][1000 genomes]
rs8021583	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022041	0.81[EUR][1000 genomes]
rs8022225	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323284	0.83[EUR][1000 genomes]
rs943590	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs946059	0.83[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7146748	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55739000-55751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:55739000-55755600	Weak transcription	Gastric	stomach
3	chr14:55739200-55768400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:55740000-55751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:55740000-55751400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:55740000-55770600	Weak transcription	Colonic Mucosa	Colon
7	chr14:55740200-55754200	Weak transcription	Hela-S3	cervix
8	chr14:55740600-55751400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:55740800-55750800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:55740800-55751400	Weak transcription	Placenta	Placenta
11	chr14:55740800-55752000	Weak transcription	Esophagus	oesophagus
12	chr14:55741000-55764600	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:55741000-55773200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:55741200-55749000	Weak transcription	Right Atrium	heart
15	chr14:55741200-55754000	Weak transcription	Fetal Brain Male	brain
16	chr14:55741800-55750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:55741800-55752400	Weak transcription	A549	lung
18	chr14:55741800-55763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:55741800-55763800	Weak transcription	NHEK	skin
20	chr14:55741800-55764600	Weak transcription	HMEC	breast
21	chr14:55742000-55752200	Weak transcription	Fetal Lung	lung
22	chr14:55742000-55765400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:55742200-55749800	Weak transcription	Fetal Kidney	kidney
24	chr14:55742200-55751600	Weak transcription	Osteobl	bone
25	chr14:55742200-55754000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:55742200-55754200	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:55742200-55754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:55742400-55747800	Weak transcription	Right Ventricle	heart
29	chr14:55742600-55754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:55742800-55752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:55742800-55754200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:55743000-55747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:55744000-55767800	Weak transcription	K562	blood
34	chr14:55744400-55752000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:55744800-55748800	Weak transcription	Left Ventricle	heart
36	chr14:55744800-55754600	Weak transcription	HepG2	liver
37	chr14:55744800-55757800	Weak transcription	Fetal Intestine Large	intestine
38	chr14:55744800-55764800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:55744800-55765400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:55744800-55767800	Weak transcription	Pancreas	Pancrea
41	chr14:55745000-55747200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:55745000-55748000	Weak transcription	Fetal Heart	heart
43	chr14:55745000-55748200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:55745000-55749000	Weak transcription	Ovary	ovary
45	chr14:55745000-55752000	Weak transcription	Spleen	Spleen
46	chr14:55745000-55761000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:55745000-55764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:55745000-55768400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:55745000-55774000	Weak transcription	Liver	Liver
50	chr14:55745200-55747800	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links