Variant report

Variant	rs62093901
Chromosome Location	chr18:29512261-29512262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29509835..29512655-chr18:29521511..29523719,2	MCF-7	breast:
2	chr18:29506087..29508444-chr18:29510343..29513453,3	MCF-7	breast:
3	chr18:29511145..29516088-chr18:29521483..29523975,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263823	Chromatin interaction
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11081717	0.85[ASN][1000 genomes]
rs11081718	0.86[ASN][1000 genomes]
rs11081719	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11081720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11081722	0.93[ASN][1000 genomes]
rs11081723	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081724	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659244	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11660557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11661525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11662697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11665424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11877256	0.95[ASN][1000 genomes]
rs12604691	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12605636	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12606354	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12606379	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12606882	0.95[ASN][1000 genomes]
rs12606962	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12608051	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17741796	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17741967	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17742014	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17742105	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17804129	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291239	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28654480	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34180462	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35275842	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3737373	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3737374	0.89[ASN][1000 genomes]
rs3810001	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925536	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539674	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4545895	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55706254	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56303347	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58098304	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62093860	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093866	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093867	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62093868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62093869	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62093873	0.95[ASN][1000 genomes]
rs62093900	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62093903	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62095508	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095510	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095543	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095544	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095545	0.88[ASN][1000 genomes]
rs62095546	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095547	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095548	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506947	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7226615	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7226713	0.92[ASN][1000 genomes]
rs7228817	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7233234	0.92[ASN][1000 genomes]
rs7234341	0.96[ASN][1000 genomes]
rs7234798	0.93[ASN][1000 genomes]
rs7237879	0.90[ASN][1000 genomes]
rs7239629	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72930222	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9635917	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
2	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
5	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
6	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
7	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:29479600-29518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:29480600-29519400	Weak transcription	Spleen	Spleen
10	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:29484400-29520800	Weak transcription	Fetal Brain Female	brain
14	chr18:29484800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:29488000-29519600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:29490400-29519000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:29492600-29519600	Weak transcription	Ovary	ovary
18	chr18:29493000-29521600	Weak transcription	Aorta	Aorta
19	chr18:29493400-29521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:29494000-29518400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:29496200-29512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:29496600-29521400	Weak transcription	NHEK	skin
23	chr18:29500600-29521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:29500800-29512800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr18:29502800-29519400	Weak transcription	GM12878-XiMat	blood
26	chr18:29503000-29518800	Weak transcription	Right Ventricle	heart
27	chr18:29504600-29513800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:29504600-29516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:29505200-29521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:29505800-29512800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:29506000-29516800	Strong transcription	Fetal Thymus	thymus
32	chr18:29506200-29512600	Strong transcription	Dnd41	blood
33	chr18:29506400-29512600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:29506800-29521600	Weak transcription	A549	lung
35	chr18:29508000-29515400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:29508000-29515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr18:29508200-29512400	Weak transcription	Colonic Mucosa	Colon
38	chr18:29508400-29515600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr18:29508800-29518600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr18:29508800-29520400	Weak transcription	Brain Germinal Matrix	brain
41	chr18:29509000-29519400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:29509200-29520800	Weak transcription	Fetal Lung	lung
43	chr18:29509400-29521000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr18:29509600-29514200	Weak transcription	Esophagus	oesophagus
45	chr18:29509600-29514600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:29509600-29515400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:29509600-29517200	Weak transcription	Left Ventricle	heart
48	chr18:29509600-29519400	Weak transcription	Gastric	stomach
49	chr18:29509600-29519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:29509600-29520800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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