Variant report

Variant	rs73234683
Chromosome Location	chr13:80066666-80066667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80066505..80068962-chr13:80069682..80071575,2	MCF-7	breast:
2	chr13:80054534..80056612-chr13:80065501..80067277,2	MCF-7	breast:
3	chr13:80063503..80065640-chr13:80065674..80068573,2	MCF-7	breast:
4	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:

Variant related genes	Relation type
ENSG00000232132	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11549502	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11838769	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11839222	0.89[AMR][1000 genomes]
rs17431002	0.84[EUR][1000 genomes]
rs4884132	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4885641	0.84[EUR][1000 genomes]
rs67435118	0.85[AMR][1000 genomes]
rs7321672	0.89[AMR][1000 genomes]
rs73234690	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73235960	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7399942	0.81[EUR][1000 genomes]
rs7983288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7983516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7990729	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7991663	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992646	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8000301	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9530926	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530928	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530932	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530933	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530935	0.81[EUR][1000 genomes]
rs9530936	0.84[EUR][1000 genomes]
rs9545119	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9545126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545127	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545130	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545140	0.81[EUR][1000 genomes]
rs9545141	0.81[EUR][1000 genomes]
rs9545143	0.84[EUR][1000 genomes]
rs9545144	0.81[EUR][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
2	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
3	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
4	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr13:80061200-80071200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:80063400-80067000	Enhancers	Fetal Heart	heart
8	chr13:80063400-80077200	Weak transcription	K562	blood
9	chr13:80063600-80066800	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:80063600-80067600	Enhancers	Duodenum Mucosa	Duodenum
11	chr13:80063800-80066800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr13:80064000-80066800	Enhancers	Stomach Mucosa	stomach
13	chr13:80064200-80066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:80064200-80066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:80064200-80067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:80064400-80066800	Enhancers	Fetal Stomach	stomach
17	chr13:80064400-80066800	Weak transcription	GM12878-XiMat	blood
18	chr13:80064600-80067000	Enhancers	Colon Smooth Muscle	Colon
19	chr13:80064600-80067200	Enhancers	NH-A	brain
20	chr13:80064600-80067400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:80064600-80069000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:80064600-80069000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:80064800-80067000	Enhancers	NHDF-Ad	bronchial
24	chr13:80064800-80067200	Enhancers	HSMM	muscle
25	chr13:80064800-80069000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:80064800-80069000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr13:80064800-80069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
29	chr13:80065000-80067000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:80065000-80067800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr13:80065000-80068400	Flanking Active TSS	Dnd41	blood
32	chr13:80065000-80068800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:80065200-80067600	Enhancers	Adipose Nuclei	Adipose
34	chr13:80065200-80067800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:80065400-80067000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:80065400-80067200	Flanking Active TSS	Hela-S3	cervix
37	chr13:80065400-80068000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr13:80065400-80068400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:80065600-80066800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr13:80065600-80067000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:80065600-80067000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr13:80065800-80066800	Weak transcription	Liver	Liver
43	chr13:80065800-80067000	Enhancers	Brain Anterior Caudate	brain
44	chr13:80065800-80067600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:80065800-80067600	Enhancers	Fetal Lung	lung
46	chr13:80065800-80068000	Enhancers	Primary T cells from cord blood	blood
47	chr13:80066000-80067000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:80066000-80067200	Enhancers	Osteobl	bone
49	chr13:80066000-80067800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr13:80066000-80068000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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