Variant report

Variant	rs73571462
Chromosome Location	chr8:48634622-48634623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48436683..48438383-chr8:48633840..48636736,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs17287584	1.00[AMR][1000 genomes]
rs56807775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.89[AFR][1000 genomes]
rs57659543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.89[AFR][1000 genomes]
rs73565260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577390	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178070	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48612000-48647400	Weak transcription	NH-A	brain
7	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:48613600-48636600	Weak transcription	NHDF-Ad	bronchial
9	chr8:48613600-48647200	Weak transcription	A549	lung
10	chr8:48618000-48638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:48624200-48641600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:48624800-48635600	Weak transcription	K562	blood
20	chr8:48626200-48638400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
22	chr8:48626400-48634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:48626600-48639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:48626600-48646400	Weak transcription	Osteobl	bone
25	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:48626800-48636800	Weak transcription	NHLF	lung
28	chr8:48626800-48638400	Weak transcription	Fetal Thymus	thymus
29	chr8:48626800-48644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:48627000-48636800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:48627000-48636800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:48627000-48638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:48627000-48641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:48627000-48646200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:48627000-48646800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:48627000-48647000	Weak transcription	Fetal Kidney	kidney
37	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:48627400-48636600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:48627400-48641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:48627400-48641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:48627600-48636600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:48627800-48642800	Weak transcription	GM12878-XiMat	blood
44	chr8:48629600-48636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:48629800-48636800	Weak transcription	Dnd41	blood
46	chr8:48629800-48641400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:48630200-48641200	Weak transcription	Right Ventricle	heart
48	chr8:48630400-48636800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:48630400-48636800	Weak transcription	HepG2	liver
50	chr8:48630600-48636800	Weak transcription	Thymus	Thymus

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