Variant report

Variant	rs72717745
Chromosome Location	chr14:55851705-55851706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55839764..55841295-chr14:55849699..55852190,2	MCF-7	breast:
2	chr14:55851517..55854050-chr14:55862955..55864558,2	K562	blood:
3	chr14:55737565..55739457-chr14:55849984..55852206,2	K562	blood:
4	chr14:55851134..55854346-chr14:55857455..55859971,3	K562	blood:
5	chr14:55851233..55853002-chr14:55877358..55880266,2	MCF-7	breast:
6	chr14:55851395..55854155-chr14:55863478..55865665,2	MCF-7	breast:
7	chr14:55737565..55739561-chr14:55849984..55852206,3	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17671923	1.00[ASN][1000 genomes]
rs17672376	1.00[ASN][1000 genomes]
rs17672950	1.00[ASN][1000 genomes]
rs17673930	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17675052	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740413	1.00[ASN][1000 genomes]
rs17741681	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17741825	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17742621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35070799	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41299199	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60505634	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717724	0.83[AFR][1000 genomes]
rs72717751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717752	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717758	0.88[AFR][1000 genomes]
rs72717759	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
3	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:55832400-55857800	Strong transcription	Liver	Liver
10	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
11	chr14:55838600-55853600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
15	chr14:55840400-55856600	Strong transcription	Fetal Intestine Large	intestine
16	chr14:55840400-55856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:55840600-55851800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:55840600-55854200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:55841800-55855000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:55842000-55856200	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:55842200-55852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:55842200-55856400	Strong transcription	Placenta	Placenta
24	chr14:55842400-55852000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:55842400-55852400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:55842400-55852600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:55842400-55854200	Strong transcription	Brain Hippocampus Middle	brain
28	chr14:55842400-55855400	Strong transcription	Fetal Stomach	stomach
29	chr14:55842600-55852600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:55842600-55853400	Strong transcription	Lung	lung
31	chr14:55842800-55852200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:55842800-55853200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:55843000-55852400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:55843200-55852600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:55843400-55853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:55843600-55855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:55844000-55854800	Weak transcription	Fetal Brain Male	brain
38	chr14:55845000-55855200	Strong transcription	Fetal Intestine Small	intestine
39	chr14:55846000-55854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:55846800-55851800	Strong transcription	Gastric	stomach
41	chr14:55847200-55855400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:55847200-55856800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:55847400-55852400	Weak transcription	NHEK	skin
44	chr14:55848200-55852000	Weak transcription	GM12878-XiMat	blood
45	chr14:55848400-55852000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr14:55848600-55852600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:55848600-55856200	Strong transcription	HepG2	liver
48	chr14:55848600-55876600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:55848800-55852600	Weak transcription	Fetal Kidney	kidney
50	chr14:55848800-55854800	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links