Variant report

Variant	rs73246681
Chromosome Location	chr5:112629638-112629639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10077020	0.85[AMR][1000 genomes]
rs10428666	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10519343	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10519345	0.92[ASN][1000 genomes]
rs10519346	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11241197	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740045	0.80[AFR][1000 genomes];0.85[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	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741937	0.96[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	0.90[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	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11748465	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748503	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11748524	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749864	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186466	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188069	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188070	0.84[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	0.90[AMR][1000 genomes]
rs12518849	0.92[ASN][1000 genomes]
rs12521391	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12522683	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12522862	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12523027	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523284	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[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	0.91[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	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135531	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	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135546	0.91[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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850410	0.81[AMR][1000 genomes];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	0.84[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	0.84[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]
rs6877524	0.80[AMR][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	0.80[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	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246648	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73246657	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73246677	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7703865	0.84[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	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs971371	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs971373	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs977997	0.81[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112626800-112631400	Active TSS	Ovary	ovary
2	chr5:112627200-112631200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112627400-112631000	Active TSS	Psoas Muscle	Psoas
4	chr5:112628200-112629800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr5:112628200-112630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:112628200-112630800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr5:112628200-112631000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:112628200-112631000	Active TSS	Brain Hippocampus Middle	brain
9	chr5:112628200-112631000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:112628200-112631000	Active TSS	Brain Substantia Nigra	brain
11	chr5:112628200-112631000	Active TSS	Right Atrium	heart
12	chr5:112628200-112631000	Active TSS	Stomach Smooth Muscle	stomach
13	chr5:112628200-112631200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:112628200-112631200	Active TSS	NHDF-Ad	bronchial
15	chr5:112628400-112629800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112628400-112629800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:112628400-112631000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:112628400-112631000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:112628400-112631000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:112628400-112631200	Active TSS	Fetal Muscle Trunk	muscle
21	chr5:112628400-112631200	Active TSS	Left Ventricle	heart
22	chr5:112628600-112629800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr5:112628600-112630200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:112628600-112630600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:112628600-112630600	Active TSS	Lung	lung
26	chr5:112628600-112630800	Active TSS	Brain Angular Gyrus	brain
27	chr5:112628600-112630800	Active TSS	Esophagus	oesophagus
28	chr5:112628600-112630800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr5:112628600-112631000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:112628600-112631000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr5:112628600-112631000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:112628600-112631200	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:112628600-112631400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:112628800-112629800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112628800-112629800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr5:112628800-112630200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:112628800-112631000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:112628800-112631200	Active TSS	Gastric	stomach
39	chr5:112629000-112629800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
40	chr5:112629000-112629800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr5:112629000-112629800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr5:112629000-112629800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:112629000-112629800	Bivalent/Poised TSS	Fetal Lung	lung
44	chr5:112629000-112629800	Flanking Active TSS	Osteobl	bone
45	chr5:112629000-112630200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr5:112629000-112630200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr5:112629000-112630600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:112629000-112630800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr5:112629000-112630800	Active TSS	NHEK	skin
50	chr5:112629000-112631000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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