Variant report

Variant	rs1573362
Chromosome Location	chr18:45455641-45455642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
2	chr18:45412211..45417305-chr18:45454331..45458060,5	MCF-7	breast:
3	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
4	chr18:45455170..45457899-chr18:45935970..45938603,2	K562	blood:

Variant related genes	Relation type
ENSG00000184828	Chromatin interaction
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10445485	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10502890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853560	0.83[CEU][hapmap]
rs11082638	0.85[CEU][hapmap]
rs11082639	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs11082641	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11659463	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12457664	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12458238	0.86[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12604337	0.80[EUR][1000 genomes]
rs12605333	0.83[EUR][1000 genomes]
rs12968107	0.82[CEU][hapmap]
rs12968493	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969725	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539872	0.85[CEU][hapmap]
rs1573363	0.83[CEU][hapmap]
rs1613672	0.80[CEU][hapmap]
rs1631576	0.82[CEU][hapmap]
rs17741998	0.83[CEU][hapmap]
rs1787176	0.80[CEU][hapmap]
rs1787186	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs1787193	0.80[CEU][hapmap]
rs1787194	0.80[CEU][hapmap]
rs1787196	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1787198	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1787199	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1792655	0.80[CEU][hapmap]
rs1792658	0.83[YRI][hapmap]
rs1792666	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]
rs1792667	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792668	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792669	0.83[CEU][hapmap]
rs1792670	0.85[CEU][hapmap]
rs1792671	0.80[CEU][hapmap]
rs1792674	0.85[CEU][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792675	0.80[CEU][hapmap]
rs1792684	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs1792686	0.81[CEU][hapmap];0.95[YRI][hapmap]
rs1792687	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792689	1.00[YRI][hapmap]
rs1942158	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2000708	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2000709	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs2012555	0.85[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2096933	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs3813068	0.89[CEU][hapmap]
rs4939672	0.83[EUR][1000 genomes]
rs4940102	0.86[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4940109	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs4940110	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs57620563	0.99[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6507790	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6507791	0.83[CEU][hapmap]
rs7228393	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7231538	0.82[CEU][hapmap]
rs7233129	0.83[CEU][hapmap]
rs7236177	0.85[CEU][hapmap]
rs7243502	0.82[EUR][1000 genomes]
rs729112	0.85[CEU][hapmap]
rs747952	0.83[CEU][hapmap]
rs747953	0.83[CEU][hapmap]
rs765213	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs8095519	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs8097580	0.84[CEU][hapmap]
rs8097912	0.83[CEU][hapmap]
rs8097925	0.82[EUR][1000 genomes]
rs8099127	0.83[CEU][hapmap]
rs948601	0.83[EUR][1000 genomes]
rs948602	0.86[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs948603	0.82[CEU][hapmap]
rs948604	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs9946556	0.80[CEU][hapmap]
rs9955626	0.83[CEU][hapmap]
rs9966964	0.82[CEU][hapmap]

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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
3	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
4	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
5	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:45444800-45456000	Weak transcription	Lung	lung
8	chr18:45446200-45455800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
10	chr18:45450000-45456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:45451600-45456000	Enhancers	Fetal Heart	heart
12	chr18:45452000-45456000	Enhancers	Brain Hippocampus Middle	brain
13	chr18:45452200-45456000	Enhancers	Brain Substantia Nigra	brain
14	chr18:45452400-45455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:45452400-45455800	Enhancers	Brain Anterior Caudate	brain
16	chr18:45452400-45455800	Enhancers	Fetal Intestine Small	intestine
17	chr18:45452400-45456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:45452600-45456000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:45452800-45456000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:45453000-45455800	Enhancers	Brain Angular Gyrus	brain
21	chr18:45453400-45455800	Weak transcription	Aorta	Aorta
22	chr18:45453400-45455800	Enhancers	Liver	Liver
23	chr18:45453600-45456000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr18:45453600-45458200	Active TSS	GM12878-XiMat	blood
25	chr18:45453800-45455800	Weak transcription	Psoas Muscle	Psoas
26	chr18:45453800-45456200	Weak transcription	Gastric	stomach
27	chr18:45454000-45456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:45454000-45456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:45454400-45455800	Enhancers	Primary B cells from cord blood	blood
30	chr18:45454400-45455800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr18:45454400-45456000	Enhancers	Brain Cingulate Gyrus	brain
32	chr18:45454400-45456200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr18:45454400-45456400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr18:45454400-45456400	Flanking Active TSS	Dnd41	blood
35	chr18:45454600-45455800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:45454600-45455800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr18:45454600-45455800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:45454600-45456000	Enhancers	Primary B cells from peripheral blood	blood
39	chr18:45454600-45456200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:45454600-45456200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:45454600-45456400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr18:45454600-45456400	Flanking Active TSS	HUVEC	blood vessel
43	chr18:45454600-45458000	Active TSS	Ovary	ovary
44	chr18:45454600-45458200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:45454600-45458400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr18:45454600-45458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:45454600-45458600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:45454600-45458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:45454800-45455800	Enhancers	Brain Germinal Matrix	brain
50	chr18:45454800-45456000	Enhancers	Primary neutrophils fromperipheralblood	blood

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