Variant report

Variant	rs72750768
Chromosome Location	chr5:43135084-43135085
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	chr5:43134921..43137750-chr5:43153839..43155505,2	MCF-7	breast:
2	chr5:43134040..43135764-chr5:43139091..43141451,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10050724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745619	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11748652	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12110174	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514198	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12514283	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522830	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12522938	1.00[ASN][1000 genomes]
rs17303015	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1845485	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186274	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55714804	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55735646	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740753	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55780226	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967719	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56003146	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081223	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871615	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72748871	1.00[ASN][1000 genomes]
rs72748894	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752504	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752507	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752511	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
2	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
5	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
7	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
10	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
11	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
14	chr5:43124400-43138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
17	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:43124600-43137400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:43124600-43138600	Strong transcription	Fetal Intestine Large	intestine
20	chr5:43126000-43137400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:43126200-43136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:43126600-43137200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:43126600-43137400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:43127600-43178000	Strong transcription	Dnd41	blood
26	chr5:43128000-43151400	Weak transcription	Right Ventricle	heart
27	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
28	chr5:43128200-43151000	Weak transcription	Ovary	ovary
29	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:43128400-43137000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:43128400-43137000	Weak transcription	HepG2	liver
33	chr5:43128400-43137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:43128400-43140000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:43128400-43151600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
38	chr5:43128600-43140200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:43129000-43136800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:43129200-43136200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:43129600-43142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:43129600-43142800	Weak transcription	NHLF	lung
46	chr5:43129800-43141600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:43130200-43140000	Weak transcription	Lung	lung
48	chr5:43130200-43156200	Weak transcription	Gastric	stomach
49	chr5:43131000-43137200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:43131000-43159800	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