Variant report

Variant	rs2148505
Chromosome Location	chr14:70240985-70240986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70240748..70243756-chr14:70261523..70264919,3	MCF-7	breast:
2	chr14:70046299..70047841-chr14:70240558..70242484,2	K562	blood:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130926	0.86[ASN][1000 genomes]
rs10136529	0.91[EUR][1000 genomes]
rs10142027	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142031	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142686	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10143223	0.89[ASN][1000 genomes]
rs10151895	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459536	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621916	0.85[ASN][1000 genomes]
rs11622580	0.91[ASN][1000 genomes]
rs11622925	0.86[ASN][1000 genomes]
rs11624523	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624532	0.88[ASN][1000 genomes]
rs11625731	0.91[ASN][1000 genomes]
rs11625932	0.93[ASN][1000 genomes]
rs11629054	0.82[ASN][1000 genomes]
rs12431573	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13313388	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17328	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1953399	0.93[ASN][1000 genomes]
rs1953400	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148503	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332167	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28404963	0.91[ASN][1000 genomes]
rs28437822	0.94[ASN][1000 genomes]
rs28490548	0.92[EUR][1000 genomes]
rs2877595	0.91[ASN][1000 genomes]
rs2877598	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28847646	0.88[ASN][1000 genomes]
rs3104	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784152	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784153	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809399	0.86[ASN][1000 genomes]
rs4646285	0.86[ASN][1000 genomes]
rs4646286	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646297	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899311	0.90[ASN][1000 genomes]
rs4899313	0.93[ASN][1000 genomes]
rs4902752	0.91[ASN][1000 genomes]
rs4902753	0.91[ASN][1000 genomes]
rs4902755	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902756	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902757	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55724465	0.94[ASN][1000 genomes]
rs55987626	0.86[ASN][1000 genomes]
rs56074637	0.86[ASN][1000 genomes]
rs56140822	0.80[ASN][1000 genomes]
rs57492222	0.93[ASN][1000 genomes]
rs58582364	0.94[ASN][1000 genomes]
rs59172911	0.91[ASN][1000 genomes]
rs60442313	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61356864	0.84[ASN][1000 genomes]
rs6573905	0.91[ASN][1000 genomes]
rs6573906	0.91[ASN][1000 genomes]
rs6573907	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573908	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573909	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7142868	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152290	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7153496	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153985	0.91[ASN][1000 genomes]
rs7154439	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7160953	0.91[ASN][1000 genomes]
rs7161476	0.91[ASN][1000 genomes]
rs72725718	0.91[ASN][1000 genomes]
rs72725724	0.85[ASN][1000 genomes]
rs72725740	0.94[ASN][1000 genomes]
rs72725743	0.94[ASN][1000 genomes]
rs72725745	0.94[ASN][1000 genomes]
rs8005609	0.93[EUR][1000 genomes]
rs8010836	0.91[ASN][1000 genomes]
rs8011311	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8013598	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014236	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8021735	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9944036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70235400-70241200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70235400-70248200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:70235600-70244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:70235600-70246200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:70235600-70247000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:70235800-70241200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:70235800-70241400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:70235800-70244200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:70235800-70244400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:70235800-70246200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:70235800-70246400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:70235800-70246600	Strong transcription	HSMMtube	muscle
13	chr14:70235800-70246800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr14:70235800-70248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:70235800-70249200	Strong transcription	HSMM	muscle
16	chr14:70236000-70242000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:70236000-70245400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr14:70236000-70247000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:70236000-70247600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:70236000-70248800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:70236400-70242400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:70236400-70246400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:70236400-70248800	Strong transcription	Primary B cells from cord blood	blood
24	chr14:70236600-70241000	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr14:70236600-70241000	Strong transcription	K562	blood
26	chr14:70236600-70241000	Strong transcription	NHEK	skin
27	chr14:70236600-70241200	Strong transcription	Colonic Mucosa	Colon
28	chr14:70236600-70241400	Strong transcription	Brain Germinal Matrix	brain
29	chr14:70236600-70241800	Strong transcription	Aorta	Aorta
30	chr14:70236600-70244800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:70236600-70246000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr14:70236600-70247200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:70236600-70248200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:70236600-70248200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:70236600-70248200	Strong transcription	HMEC	breast
36	chr14:70236600-70248400	Strong transcription	Fetal Lung	lung
37	chr14:70236600-70249400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:70236800-70241000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:70236800-70241800	Strong transcription	Spleen	Spleen
40	chr14:70236800-70242800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:70236800-70242800	Strong transcription	Fetal Thymus	thymus
42	chr14:70236800-70245400	Strong transcription	NHDF-Ad	bronchial
43	chr14:70236800-70246200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:70236800-70246200	Strong transcription	Fetal Muscle Leg	muscle
45	chr14:70236800-70246400	Strong transcription	Fetal Stomach	stomach
46	chr14:70236800-70246600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:70236800-70247200	Strong transcription	NH-A	brain
48	chr14:70236800-70247800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:70236800-70248000	Weak transcription	Right Atrium	heart
50	chr14:70236800-70248200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links