Variant report

Variant	rs73835537
Chromosome Location	chr3:50596467-50596468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50594854..50596766-chr3:50606531..50608188,2	MCF-7	breast:
2	chr3:50595775..50597292-chr3:50644098..50646592,2	MCF-7	breast:
3	chr3:50483163..50485721-chr3:50593817..50596620,2	MCF-7	breast:
4	chr3:50594685..50598509-chr3:50599030..50605276,6	K562	blood:
5	chr3:50593486..50596662-chr3:50604941..50607206,3	MCF-7	breast:
6	chr3:50595096..50597845-chr3:50598806..50601050,2	MCF-7	breast:
7	chr3:50587657..50590560-chr3:50595008..50597465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088543	Chromatin interaction
ENSG00000114735	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1038415	1.00[EUR][1000 genomes]
rs107457	1.00[EUR][1000 genomes]
rs1552255	1.00[EUR][1000 genomes]
rs1552256	1.00[EUR][1000 genomes]
rs17051012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051404	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1843073	1.00[EUR][1000 genomes]
rs2232251	1.00[EUR][1000 genomes]
rs2355337	1.00[EUR][1000 genomes]
rs2459450	1.00[EUR][1000 genomes]
rs2675781	1.00[EUR][1000 genomes]
rs2675785	1.00[EUR][1000 genomes]
rs2675833	1.00[EUR][1000 genomes]
rs407164	1.00[EUR][1000 genomes]
rs421689	1.00[EUR][1000 genomes]
rs4234694	1.00[EUR][1000 genomes]
rs4234695	1.00[EUR][1000 genomes]
rs4267639	1.00[EUR][1000 genomes]
rs4340700	1.00[EUR][1000 genomes]
rs4560294	1.00[AMR][1000 genomes]
rs4688704	1.00[EUR][1000 genomes]
rs55723661	1.00[AMR][1000 genomes]
rs55852678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56198179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56341000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56413944	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57077411	1.00[AMR][1000 genomes]
rs57155820	1.00[AMR][1000 genomes]
rs57756789	1.00[EUR][1000 genomes]
rs57867785	1.00[AMR][1000 genomes]
rs57987466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58231937	1.00[AMR][1000 genomes]
rs58854038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58911362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59337835	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59340349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59486246	1.00[AMR][1000 genomes]
rs60132317	1.00[EUR][1000 genomes]
rs60455882	1.00[EUR][1000 genomes]
rs609678	1.00[EUR][1000 genomes]
rs61032466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61455710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621975	1.00[EUR][1000 genomes]
rs628865	1.00[EUR][1000 genomes]
rs6446223	1.00[EUR][1000 genomes]
rs650473	1.00[EUR][1000 genomes]
rs665943	1.00[EUR][1000 genomes]
rs6768539	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833231	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833239	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833242	1.00[AMR][1000 genomes]
rs73833247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833248	1.00[AMR][1000 genomes]
rs73833404	1.00[AMR][1000 genomes]
rs73833406	1.00[AMR][1000 genomes]
rs73833886	1.00[AMR][1000 genomes]
rs73833935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835518	1.00[EUR][1000 genomes]
rs73835533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936714	1.00[EUR][1000 genomes]
rs9840476	1.00[EUR][1000 genomes]
rs9857033	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50583600-50603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:50586000-50597200	Weak transcription	Right Atrium	heart
3	chr3:50587600-50603800	Weak transcription	Brain Anterior Caudate	brain
4	chr3:50588400-50603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:50589600-50604000	Weak transcription	Fetal Lung	lung
6	chr3:50592600-50597200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:50592800-50604000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:50593200-50597000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:50593400-50601400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:50593400-50602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:50593600-50604000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:50593800-50604200	Weak transcription	Brain Germinal Matrix	brain
13	chr3:50594200-50604000	Weak transcription	Pancreas	Pancrea
14	chr3:50594600-50597400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:50594600-50604000	Weak transcription	Brain Substantia Nigra	brain
16	chr3:50594800-50601000	Weak transcription	Fetal Brain Female	brain
17	chr3:50594800-50604000	Weak transcription	Adipose Nuclei	Adipose
18	chr3:50595600-50604000	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:50595800-50596800	Weak transcription	Right Ventricle	heart
20	chr3:50595800-50597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:50595800-50597000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:50595800-50597000	Weak transcription	Left Ventricle	heart
23	chr3:50595800-50599000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:50595800-50600000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:50595800-50603200	Strong transcription	Fetal Stomach	stomach
26	chr3:50595800-50604200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:50595800-50604400	Weak transcription	Primary T cells from cord blood	blood
28	chr3:50596000-50597000	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr3:50596000-50597000	Strong transcription	Ovary	ovary
30	chr3:50596000-50598400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr3:50596200-50596600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:50596200-50596800	Strong transcription	Brain Angular Gyrus	brain
33	chr3:50596200-50597400	Strong transcription	Fetal Intestine Small	intestine
34	chr3:50596200-50598200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:50596200-50604200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:50596400-50596600	Genic enhancers	Fetal Muscle Leg	muscle
37	chr3:50596400-50596600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:50596400-50596800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:50596400-50596800	Weak transcription	Gastric	stomach
40	chr3:50596400-50597200	Weak transcription	Spleen	Spleen
41	chr3:50596400-50599000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:50596400-50603800	Weak transcription	Fetal Heart	heart

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