Variant report

Variant	rs72717743
Chromosome Location	chr14:55849103-55849104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55827842..55829684-chr14:55847193..55849641,2	MCF-7	breast:
2	chr14:55847857..55850141-chr14:56058173..56060941,2	MCF-7	breast:
3	chr14:55845918..55850716-chr14:55877074..55879382,5	K562	blood:
4	chr14:55842441..55844954-chr14:55847953..55850798,4	K562	blood:

Variant related genes	Relation type
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17742621	0.94[AFR][1000 genomes]
rs35342573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67626275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715735	0.86[EUR][1000 genomes]
rs72715743	1.00[AMR][1000 genomes]
rs72715749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715763	1.00[AMR][1000 genomes]
rs72715765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717708	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717713	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717766	0.83[AMR][1000 genomes]
rs72717777	0.86[EUR][1000 genomes]
rs72718831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718856	1.00[AMR][1000 genomes];1.00[EUR][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	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
8	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:55832000-55849600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:55832000-55850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:55832400-55857800	Strong transcription	Liver	Liver
14	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
15	chr14:55838200-55850400	Weak transcription	Stomach Mucosa	stomach
16	chr14:55838600-55849200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:55838600-55853600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:55839400-55859200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:55839600-55858600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr14:55840200-55858800	Strong transcription	Primary B cells from cord blood	blood
21	chr14:55840400-55856600	Strong transcription	Fetal Intestine Large	intestine
22	chr14:55840400-55856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:55840600-55849400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:55840600-55849600	Strong transcription	Fetal Lung	lung
25	chr14:55840600-55851800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:55840600-55854200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr14:55841000-55849400	Strong transcription	Adipose Nuclei	Adipose
28	chr14:55841000-55859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:55841800-55855000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:55842000-55850600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:55842000-55856200	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:55842200-55849200	Strong transcription	Brain Germinal Matrix	brain
33	chr14:55842200-55852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:55842200-55856400	Strong transcription	Placenta	Placenta
35	chr14:55842400-55852000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:55842400-55852400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:55842400-55852600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:55842400-55854200	Strong transcription	Brain Hippocampus Middle	brain
39	chr14:55842400-55855400	Strong transcription	Fetal Stomach	stomach
40	chr14:55842600-55849600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:55842600-55849800	Strong transcription	Left Ventricle	heart
42	chr14:55842600-55852600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:55842600-55853400	Strong transcription	Lung	lung
44	chr14:55842800-55849200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:55842800-55849600	Strong transcription	Dnd41	blood
46	chr14:55842800-55850000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:55842800-55850800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:55842800-55850800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr14:55842800-55851400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:55842800-55852200	Strong transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links