Variant report

Variant	rs5027472
Chromosome Location	chr5:60623038-60623039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
2	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
3	chr5:60621987..60625726-chr5:60627235..60630400,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10939900	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939901	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939902	0.90[ASN][1000 genomes]
rs11750589	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12187112	0.85[ASN][1000 genomes]
rs12188627	0.84[ASN][1000 genomes]
rs12189001	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12518479	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12520628	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13158675	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13162358	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13169711	0.91[ASN][1000 genomes]
rs13170135	0.88[ASN][1000 genomes]
rs13178686	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13181015	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13188327	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28610339	0.90[ASN][1000 genomes]
rs34739794	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35262187	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4276369	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392578	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4484384	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4604142	0.91[ASN][1000 genomes]
rs56035042	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60529601	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60886975	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62368660	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6449528	0.91[ASN][1000 genomes]
rs6449529	0.91[ASN][1000 genomes]
rs6449530	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6449531	0.90[ASN][1000 genomes]
rs6449532	0.90[ASN][1000 genomes]
rs6449533	0.90[ASN][1000 genomes]
rs6860608	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6877610	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6881765	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6885005	0.90[ASN][1000 genomes]
rs6894675	0.90[ASN][1000 genomes]
rs7700289	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7701440	0.95[ASN][1000 genomes]
rs7709645	0.90[ASN][1000 genomes]
rs7714712	0.90[ASN][1000 genomes]
rs7722810	0.80[ASN][1000 genomes]
rs7724551	0.88[ASN][1000 genomes]
rs7727824	0.90[ASN][1000 genomes]
rs7734879	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60615800-60624200	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:60615800-60624600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:60616000-60624600	Weak transcription	Fetal Stomach	stomach
4	chr5:60616200-60625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:60616400-60624400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:60616400-60625000	Weak transcription	Gastric	stomach
7	chr5:60616600-60624000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:60616600-60624000	Weak transcription	Left Ventricle	heart
9	chr5:60616800-60624400	Weak transcription	Fetal Heart	heart
10	chr5:60616800-60625800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:60617000-60626200	Weak transcription	Esophagus	oesophagus
12	chr5:60617400-60624200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:60617400-60625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:60619200-60623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:60619200-60623600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:60619200-60623600	Weak transcription	Hela-S3	cervix
17	chr5:60619200-60623600	Weak transcription	NHEK	skin
18	chr5:60619200-60624000	Weak transcription	Lung	lung
19	chr5:60619200-60624400	Weak transcription	Fetal Brain Male	brain
20	chr5:60619200-60624600	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:60619200-60624600	Weak transcription	Right Atrium	heart
22	chr5:60619200-60624600	Weak transcription	Spleen	Spleen
23	chr5:60619200-60625600	Weak transcription	Aorta	Aorta
24	chr5:60619400-60623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:60619400-60623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:60619400-60623200	Weak transcription	HMEC	breast
27	chr5:60619400-60623200	Weak transcription	NHDF-Ad	bronchial
28	chr5:60619400-60623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:60619400-60623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:60619400-60623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:60619400-60624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:60619400-60624800	Weak transcription	Fetal Kidney	kidney
33	chr5:60619400-60626200	Weak transcription	Small Intestine	intestine
34	chr5:60619600-60623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:60619800-60623800	Weak transcription	Fetal Intestine Large	intestine
36	chr5:60619800-60624000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:60620000-60623200	Weak transcription	HSMM	muscle
38	chr5:60620000-60623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:60620000-60623800	Weak transcription	Fetal Intestine Small	intestine
40	chr5:60620000-60624000	Weak transcription	Fetal Lung	lung
41	chr5:60620000-60624600	Weak transcription	Colonic Mucosa	Colon
42	chr5:60620200-60623400	Weak transcription	A549	lung
43	chr5:60620400-60623600	Weak transcription	Stomach Mucosa	stomach
44	chr5:60620400-60624200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:60620400-60624400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:60620600-60624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:60621000-60623200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:60621200-60623200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:60621200-60623600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:60622000-60623800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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