Variant report

Variant	rs12523284
Chromosome Location	chr5:112627126-112627127
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	chr5:112608585..112610553-chr5:112626855..112628809,2	MCF-7	breast:
2	chr5:112616654..112618757-chr5:112626610..112628435,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10077020	0.85[AMR][1000 genomes]
rs10428666	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10519343	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10519345	0.92[ASN][1000 genomes]
rs10519346	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11241197	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740045	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740190	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740233	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740318	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740353	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740443	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741794	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741937	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743052	0.90[ASN][1000 genomes]
rs11744606	0.95[ASN][1000 genomes]
rs11746532	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746791	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746821	0.92[ASN][1000 genomes]
rs11748058	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11748465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748503	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11748524	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749864	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186466	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188069	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188070	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188230	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12514091	0.85[AMR][1000 genomes]
rs12518849	0.92[ASN][1000 genomes]
rs12521391	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12522683	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12522862	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12523027	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360719	0.88[AMR][1000 genomes]
rs1443683	0.85[AMR][1000 genomes]
rs17135454	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135463	0.89[EUR][1000 genomes]
rs17135488	0.92[ASN][1000 genomes]
rs17135506	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135507	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135514	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17135515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135517	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135519	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17135520	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135526	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135531	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135534	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17135535	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17135542	0.82[ASN][1000 genomes]
rs17135543	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135546	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17164185	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1838208	0.86[AMR][1000 genomes]
rs1845289	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850410	0.95[EUR][1000 genomes]
rs1997521	0.90[ASN][1000 genomes]
rs2068923	0.85[AMR][1000 genomes]
rs2091803	0.85[ASN][1000 genomes]
rs2091804	0.85[ASN][1000 genomes]
rs34271294	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4632792	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705549	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4705806	0.90[ASN][1000 genomes]
rs4705807	0.92[ASN][1000 genomes]
rs4705808	0.92[ASN][1000 genomes]
rs4705809	0.92[ASN][1000 genomes]
rs4705810	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705811	0.86[ASN][1000 genomes]
rs56294433	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56362568	0.81[ASN][1000 genomes]
rs59107004	0.90[ASN][1000 genomes]
rs59222257	0.90[ASN][1000 genomes]
rs60087454	0.90[ASN][1000 genomes]
rs60437559	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62374372	0.81[AMR][1000 genomes]
rs6594695	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6594696	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6594697	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66893265	0.90[ASN][1000 genomes]
rs67063423	0.90[ASN][1000 genomes]
rs67373655	0.90[ASN][1000 genomes]
rs67550282	0.90[ASN][1000 genomes]
rs68069850	0.90[ASN][1000 genomes]
rs6879761	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6887565	0.95[ASN][1000 genomes]
rs6888602	0.95[ASN][1000 genomes]
rs73244759	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73244767	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73244770	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73244772	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73244779	0.90[ASN][1000 genomes]
rs73246604	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73246629	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246648	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73246657	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73246677	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73246681	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703865	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7724707	0.89[ASN][1000 genomes]
rs7724717	0.89[ASN][1000 genomes]
rs7724936	0.92[ASN][1000 genomes]
rs971370	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs971371	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs971373	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs977997	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112608000-112628200	Weak transcription	HMEC	breast
2	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112617800-112628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:112618400-112628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:112618400-112628200	Weak transcription	Fetal Kidney	kidney
7	chr5:112618400-112628200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:112618400-112628400	Weak transcription	Fetal Stomach	stomach
9	chr5:112619000-112628600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:112619000-112628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:112620000-112628200	Weak transcription	Brain Anterior Caudate	brain
12	chr5:112620000-112628200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:112624000-112628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:112624000-112628600	Weak transcription	Esophagus	oesophagus
15	chr5:112624000-112628800	Weak transcription	Gastric	stomach
16	chr5:112625200-112627200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:112625200-112627200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:112625200-112628200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:112625400-112627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:112625400-112628800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:112626000-112628200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:112626400-112628000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:112626400-112628200	Enhancers	HUVEC	blood vessel
24	chr5:112626600-112627200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:112626600-112627400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:112626800-112627200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:112626800-112627200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:112626800-112627200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:112626800-112627200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:112626800-112627200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:112626800-112627200	Enhancers	NHEK	skin
32	chr5:112626800-112627400	Enhancers	Right Atrium	heart
33	chr5:112626800-112627400	Enhancers	Right Ventricle	heart
34	chr5:112626800-112627600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:112626800-112627600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:112626800-112627600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:112626800-112627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:112626800-112628400	Enhancers	Liver	Liver
39	chr5:112626800-112628600	Enhancers	Fetal Heart	heart
40	chr5:112626800-112631400	Active TSS	Ovary	ovary
41	chr5:112627000-112627200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:112627000-112627200	Enhancers	Adipose Nuclei	Adipose
43	chr5:112627000-112627200	Enhancers	Aorta	Aorta
44	chr5:112627000-112627200	Enhancers	Lung	lung
45	chr5:112627000-112627200	Active TSS	Psoas Muscle	Psoas
46	chr5:112627000-112627400	Flanking Active TSS	Left Ventricle	heart
47	chr5:112627000-112627600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:112627000-112627600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:112627000-112628400	Enhancers	Fetal Muscle Leg	muscle
50	chr5:112627000-112629000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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