Variant report

Variant	rs72913075
Chromosome Location	chr18:44468799-44468800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44468278..44470904-chr18:44471891..44475725,3	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs55633240	1.00[EUR][1000 genomes]
rs55650860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877804	0.94[EUR][1000 genomes]
rs55929919	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003577	0.94[EUR][1000 genomes]
rs56010507	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56050035	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101223	0.94[EUR][1000 genomes]
rs56109213	0.94[EUR][1000 genomes]
rs56119924	1.00[EUR][1000 genomes]
rs56138442	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142565	1.00[EUR][1000 genomes]
rs56148866	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163470	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272937	0.94[EUR][1000 genomes]
rs56297904	0.94[EUR][1000 genomes]
rs56299848	0.94[EUR][1000 genomes]
rs61743415	1.00[EUR][1000 genomes]
rs61743594	1.00[EUR][1000 genomes]
rs72903234	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903239	0.94[EUR][1000 genomes]
rs72903243	0.94[EUR][1000 genomes]
rs72903245	0.94[EUR][1000 genomes]
rs72903247	0.94[EUR][1000 genomes]
rs72903249	0.94[EUR][1000 genomes]
rs72903269	0.94[EUR][1000 genomes]
rs72903273	0.94[EUR][1000 genomes]
rs72903277	0.94[EUR][1000 genomes]
rs72903280	0.94[EUR][1000 genomes]
rs72903291	0.94[EUR][1000 genomes]
rs72903295	0.94[EUR][1000 genomes]
rs72903391	0.80[EUR][1000 genomes]
rs72905218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905234	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905239	0.87[EUR][1000 genomes]
rs72905257	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905263	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905286	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905296	0.80[EUR][1000 genomes]
rs72905301	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905420	0.94[EUR][1000 genomes]
rs72905424	0.94[EUR][1000 genomes]
rs72905425	0.94[EUR][1000 genomes]
rs72905429	0.94[EUR][1000 genomes]
rs72905435	0.94[EUR][1000 genomes]
rs72905443	0.94[EUR][1000 genomes]
rs72905444	0.94[EUR][1000 genomes]
rs72905446	0.94[EUR][1000 genomes]
rs72905450	0.94[EUR][1000 genomes]
rs72905454	0.88[EUR][1000 genomes]
rs72905460	0.94[EUR][1000 genomes]
rs72905499	0.94[EUR][1000 genomes]
rs72907111	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907120	0.87[EUR][1000 genomes]
rs72907122	0.87[EUR][1000 genomes]
rs72907125	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907140	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907146	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907148	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907151	0.87[EUR][1000 genomes]
rs72907152	0.87[EUR][1000 genomes]
rs72907162	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907165	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907174	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907220	0.94[EUR][1000 genomes]
rs72907225	0.94[EUR][1000 genomes]
rs72907230	0.94[EUR][1000 genomes]
rs72909104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909181	0.93[EUR][1000 genomes]
rs72909200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913049	1.00[EUR][1000 genomes]
rs72913052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913066	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913087	1.00[EUR][1000 genomes]
rs72915064	1.00[EUR][1000 genomes]
rs72915071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917111	1.00[EUR][1000 genomes]
rs72917116	1.00[EUR][1000 genomes]
rs72917122	1.00[EUR][1000 genomes]
rs72917167	1.00[EUR][1000 genomes]
rs72917200	1.00[EUR][1000 genomes]
rs72917202	1.00[EUR][1000 genomes]
rs72919218	1.00[EUR][1000 genomes]
rs72919221	1.00[EUR][1000 genomes]
rs72919226	1.00[EUR][1000 genomes]
rs72919229	1.00[EUR][1000 genomes]
rs72919238	1.00[EUR][1000 genomes]
rs72919241	1.00[EUR][1000 genomes]
rs72919260	1.00[EUR][1000 genomes]
rs72919265	1.00[EUR][1000 genomes]
rs72919273	1.00[EUR][1000 genomes]
rs72919278	1.00[EUR][1000 genomes]
rs72919289	1.00[EUR][1000 genomes]
rs72919290	1.00[EUR][1000 genomes]
rs72919296	1.00[EUR][1000 genomes]
rs72921303	1.00[EUR][1000 genomes]
rs72921305	1.00[EUR][1000 genomes]
rs72921319	1.00[EUR][1000 genomes]
rs8083773	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44458800-44468800	Weak transcription	Hela-S3	cervix
2	chr18:44459200-44469000	Weak transcription	NHDF-Ad	bronchial
3	chr18:44464800-44471200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:44466800-44471400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr18:44467000-44470800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr18:44467000-44471200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr18:44467000-44471200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr18:44467000-44471200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:44467000-44473400	Weak transcription	Stomach Mucosa	stomach
10	chr18:44467200-44470400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr18:44467200-44470800	ZNF genes & repeats	Fetal Kidney	kidney
12	chr18:44467200-44471000	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr18:44467800-44469200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:44467800-44470800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr18:44467800-44471000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr18:44467800-44471000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr18:44467800-44471000	ZNF genes & repeats	Dnd41	blood
18	chr18:44468000-44471000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr18:44468200-44469000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:44468200-44469400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
21	chr18:44468200-44470000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr18:44468200-44470200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:44468200-44471000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:44468200-44471000	ZNF genes & repeats	GM12878-XiMat	blood
25	chr18:44468200-44471200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:44468400-44468800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:44468400-44469000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:44468400-44469000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:44468400-44469000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:44468400-44469000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:44468400-44469000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:44468400-44469000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr18:44468400-44469000	ZNF genes & repeats	Fetal Thymus	thymus
34	chr18:44468400-44469000	ZNF genes & repeats	Lung	lung
35	chr18:44468400-44469000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr18:44468400-44469000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr18:44468400-44469000	ZNF genes & repeats	Thymus	Thymus
38	chr18:44468400-44469000	ZNF genes & repeats	HMEC	breast
39	chr18:44468400-44469200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:44468400-44469200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr18:44468400-44469200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
42	chr18:44468400-44469600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr18:44468400-44469600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:44468400-44469600	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr18:44468400-44469600	ZNF genes & repeats	Liver	Liver
46	chr18:44468400-44469600	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr18:44468400-44469600	ZNF genes & repeats	Psoas Muscle	Psoas
48	chr18:44468400-44469600	ZNF genes & repeats	Small Intestine	intestine
49	chr18:44468400-44469600	ZNF genes & repeats	A549	lung
50	chr18:44468400-44469800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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