Variant report

Variant	rs13178686
Chromosome Location	chr5:60704813-60704814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60627830..60629557-chr5:60703709..60705242,2	K562	blood:
2	chr5:60704554..60708458-chr5:60711463..60715174,4	MCF-7	breast:
3	chr5:60628057..60629795-chr5:60703139..60705242,2	K562	blood:
4	chr5:60456910..60459732-chr5:60703515..60707130,5	MCF-7	breast:
5	chr5:60626312..60629944-chr5:60702524..60707105,7	MCF-7	breast:
6	chr5:60701139..60703224-chr5:60703240..60705056,2	MCF-7	breast:
7	chr5:60703951..60706510-chr5:60708254..60709801,2	MCF-7	breast:
8	chr5:60627607..60631817-chr5:60701781..60706248,8	MCF-7	breast:

No data

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

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10041978	0.86[ASN][1000 genomes]
rs1045352	0.80[ASN][1000 genomes]
rs10939897	0.91[CEU][hapmap]
rs10939900	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939901	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939902	0.99[ASN][1000 genomes]
rs10939903	0.86[ASN][1000 genomes]
rs10939905	0.80[ASN][1000 genomes]
rs11742658	0.80[ASN][1000 genomes]
rs11743711	0.88[ASN][1000 genomes]
rs11747564	0.80[ASN][1000 genomes]
rs11749200	0.80[ASN][1000 genomes]
rs11750589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11950318	0.84[ASN][1000 genomes]
rs11952146	0.80[ASN][1000 genomes]
rs11954430	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11960587	0.92[CEU][hapmap]
rs12187112	0.94[ASN][1000 genomes]
rs12188627	0.93[ASN][1000 genomes]
rs12189001	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520628	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522647	0.86[ASN][1000 genomes]
rs13154581	0.92[CEU][hapmap]
rs13154663	0.85[CEU][hapmap]
rs13156100	0.80[ASN][1000 genomes]
rs13156118	0.92[CEU][hapmap]
rs13157657	0.82[ASN][1000 genomes]
rs13157831	0.80[ASN][1000 genomes]
rs13158675	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160801	0.82[ASN][1000 genomes]
rs13162358	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163970	0.82[ASN][1000 genomes]
rs13169711	1.00[ASN][1000 genomes]
rs13170135	0.98[ASN][1000 genomes]
rs13170262	0.82[ASN][1000 genomes]
rs13171497	0.80[ASN][1000 genomes]
rs13171757	0.88[ASN][1000 genomes]
rs13172080	0.82[ASN][1000 genomes]
rs13172084	0.80[ASN][1000 genomes]
rs13179091	0.80[ASN][1000 genomes]
rs13181015	0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13185068	0.80[ASN][1000 genomes]
rs13186194	0.85[ASN][1000 genomes]
rs13188327	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13188685	0.80[ASN][1000 genomes]
rs1348716	0.82[ASN][1000 genomes]
rs1374043	0.82[ASN][1000 genomes]
rs1445976	0.80[ASN][1000 genomes]
rs1445979	0.86[ASN][1000 genomes]
rs1445980	0.80[ASN][1000 genomes]
rs1445981	0.80[ASN][1000 genomes]
rs1477355	0.86[ASN][1000 genomes]
rs1986252	0.82[ASN][1000 genomes]
rs2034239	0.80[ASN][1000 genomes]
rs2053693	0.80[ASN][1000 genomes]
rs2053694	0.80[ASN][1000 genomes]
rs2276987	0.80[ASN][1000 genomes]
rs28610339	0.99[ASN][1000 genomes]
rs34739794	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35262187	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276369	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392578	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484384	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544785	0.86[CEU][hapmap]
rs4604142	1.00[ASN][1000 genomes]
rs5027472	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55838118	0.80[ASN][1000 genomes]
rs56035042	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60529601	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62368660	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449528	1.00[ASN][1000 genomes]
rs6449529	1.00[ASN][1000 genomes]
rs6449530	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449531	0.99[ASN][1000 genomes]
rs6449532	0.99[ASN][1000 genomes]
rs6449533	0.99[ASN][1000 genomes]
rs6449535	0.86[ASN][1000 genomes]
rs66775554	0.80[ASN][1000 genomes]
rs6860608	0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6865624	0.80[ASN][1000 genomes]
rs6870349	0.85[CEU][hapmap]
rs6874264	0.80[ASN][1000 genomes]
rs6877610	0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879809	0.80[ASN][1000 genomes]
rs6881765	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885005	0.99[ASN][1000 genomes]
rs6890351	0.80[ASN][1000 genomes]
rs6894675	0.99[ASN][1000 genomes]
rs6895046	0.82[ASN][1000 genomes]
rs7443602	0.80[ASN][1000 genomes]
rs7700289	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701440	0.95[ASN][1000 genomes]
rs7709645	0.99[ASN][1000 genomes]
rs7714457	0.82[ASN][1000 genomes]
rs7714712	0.99[ASN][1000 genomes]
rs7717082	0.82[ASN][1000 genomes]
rs7719647	0.82[ASN][1000 genomes]
rs7722810	0.87[ASN][1000 genomes]
rs7724551	0.98[ASN][1000 genomes]
rs7727824	0.99[ASN][1000 genomes]
rs7734879	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60682000-60709800	Weak transcription	Left Ventricle	heart
2	chr5:60682600-60712400	Weak transcription	Esophagus	oesophagus
3	chr5:60687400-60705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60687600-60711800	Weak transcription	Aorta	Aorta
5	chr5:60690800-60705800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:60690800-60706800	Weak transcription	Gastric	stomach
7	chr5:60694000-60705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:60698000-60725400	Weak transcription	Spleen	Spleen
9	chr5:60699400-60705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:60699400-60706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60700600-60705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:60702000-60705000	Weak transcription	Stomach Mucosa	stomach
13	chr5:60703200-60706000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:60703400-60705400	Enhancers	Fetal Heart	heart
15	chr5:60703400-60706000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:60703600-60705000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:60703600-60705000	Enhancers	HSMMtube	muscle
18	chr5:60703600-60705000	Enhancers	NH-A	brain
19	chr5:60703600-60705000	Enhancers	NHLF	lung
20	chr5:60703600-60705600	Enhancers	Fetal Brain Male	brain
21	chr5:60703600-60706000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:60703600-60706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:60703600-60706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:60703600-60706200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:60703600-60708800	Enhancers	Brain Substantia Nigra	brain
26	chr5:60703800-60705000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:60703800-60705800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:60704000-60705000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr5:60704000-60705200	Enhancers	Fetal Stomach	stomach
30	chr5:60704000-60705800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:60704000-60706000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:60704000-60706000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:60704000-60706200	Enhancers	Placenta	Placenta
34	chr5:60704200-60705000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:60704200-60705000	Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:60704200-60705000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr5:60704200-60705000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:60704200-60705000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:60704200-60705000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:60704200-60705000	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr5:60704200-60705000	Active TSS	HepG2	liver
42	chr5:60704200-60705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:60704200-60705200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:60704200-60705200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:60704200-60705200	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:60704200-60705200	Active TSS	Right Atrium	heart
47	chr5:60704200-60705400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr5:60704200-60705400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr5:60704200-60705600	Weak transcription	Small Intestine	intestine
50	chr5:60704400-60705000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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