Variant report

Variant	rs55967427
Chromosome Location	chr5:112603395-112603396
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	chr5:112543815..112546269-chr5:112600639..112603401,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10213689	1.00[ASN][1000 genomes]
rs10213826	1.00[ASN][1000 genomes]
rs10519339	1.00[ASN][1000 genomes]
rs10519340	1.00[ASN][1000 genomes]
rs10519342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	1.00[ASN][1000 genomes]
rs11958840	1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410005	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57948635	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	1.00[ASN][1000 genomes]
rs59673184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60727695	1.00[ASN][1000 genomes]
rs61643643	1.00[ASN][1000 genomes]
rs61692685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[ASN][1000 genomes]
rs6859436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859619	1.00[ASN][1000 genomes]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	1.00[ASN][1000 genomes]
rs73244742	1.00[ASN][1000 genomes]
rs73244743	1.00[ASN][1000 genomes]
rs73244754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244756	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7723474	1.00[ASN][1000 genomes]
rs9326885	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
3	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:112598800-112603800	Enhancers	Liver	Liver
6	chr5:112599800-112604800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112600200-112604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:112600200-112605000	Weak transcription	NH-A	brain
9	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
10	chr5:112600400-112605200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:112600800-112605000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:112600800-112607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:112600800-112607600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:112600800-112608000	Enhancers	Ovary	ovary
15	chr5:112600800-112610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:112600800-112610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:112601000-112603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:112601000-112604000	Enhancers	Fetal Heart	heart
19	chr5:112601000-112606200	Enhancers	Right Atrium	heart
20	chr5:112601000-112612400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:112601200-112603800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:112601200-112605000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:112601200-112605800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112601400-112611200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:112602000-112603400	Enhancers	Adipose Nuclei	Adipose
26	chr5:112602000-112603600	Enhancers	Psoas Muscle	Psoas
27	chr5:112602000-112605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:112602200-112604000	Enhancers	Esophagus	oesophagus
29	chr5:112602200-112604000	Enhancers	Left Ventricle	heart
30	chr5:112602200-112604000	Flanking Active TSS	NHEK	skin
31	chr5:112602200-112604200	Enhancers	Right Ventricle	heart
32	chr5:112602200-112606600	Weak transcription	Fetal Lung	lung
33	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:112602400-112603400	Flanking Active TSS	HMEC	breast
35	chr5:112602400-112604400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:112602400-112604400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:112602600-112603400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:112602600-112609800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:112602800-112604000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:112602800-112604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:112603000-112604600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:112603000-112604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:112603000-112606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112603000-112606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:112603000-112607800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:112603000-112608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:112603000-112611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:112603200-112603400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:112603200-112603600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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