Variant report

Variant	rs56104704
Chromosome Location	chr5:112605168-112605169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs55967427	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
2	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
5	chr5:112600400-112605200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:112600800-112607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:112600800-112607600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:112600800-112608000	Enhancers	Ovary	ovary
9	chr5:112600800-112610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112600800-112610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:112601000-112606200	Enhancers	Right Atrium	heart
12	chr5:112601000-112612400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:112601200-112605800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:112601400-112611200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:112602200-112606600	Weak transcription	Fetal Lung	lung
16	chr5:112602200-112616600	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:112602600-112609800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:112603000-112606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112603000-112606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:112603000-112607800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:112603000-112608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:112603000-112611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:112603000-112616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:112603200-112605200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:112603200-112610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:112603400-112608000	Enhancers	HMEC	breast
27	chr5:112603400-112608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:112603400-112608200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:112603800-112612200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:112604000-112606000	Weak transcription	Left Ventricle	heart
31	chr5:112604000-112606800	Weak transcription	Esophagus	oesophagus
32	chr5:112604000-112607200	Enhancers	NHEK	skin
33	chr5:112604000-112607600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:112604200-112609600	Weak transcription	Right Ventricle	heart
35	chr5:112604200-112610400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:112604200-112610600	Weak transcription	Psoas Muscle	Psoas
37	chr5:112604400-112607000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:112604400-112607400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:112604400-112612600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:112604600-112605600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:112604600-112612600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:112604800-112605400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:112604800-112605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:112604800-112605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:112604800-112605800	Enhancers	Brain Germinal Matrix	brain
46	chr5:112604800-112605800	Enhancers	Dnd41	blood
47	chr5:112604800-112606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:112604800-112606400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:112605000-112605400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:112605000-112605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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