Variant report

Variant	rs4532444
Chromosome Location	chr6:56688442-56688443
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	chr6:56679539..56681152-chr6:56687972..56690917,2	MCF-7	breast:
2	chr6:56674708..56676996-chr6:56685905..56688829,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10498812	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10498813	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11756551	0.89[EUR][1000 genomes]
rs13190854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13192540	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13192931	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13194625	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13194904	0.91[EUR][1000 genomes]
rs13195601	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13198204	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13198597	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13200166	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13200559	0.88[EUR][1000 genomes]
rs13200768	0.91[EUR][1000 genomes]
rs13200868	0.85[EUR][1000 genomes]
rs13201639	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13201733	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13203148	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13203327	0.89[EUR][1000 genomes]
rs13203681	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13204466	0.91[EUR][1000 genomes]
rs13205667	0.88[EUR][1000 genomes]
rs13207768	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13208409	0.85[EUR][1000 genomes]
rs13211879	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13214893	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13215883	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13218913	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13220618	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13220628	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13220851	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1610156	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1610157	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16888171	0.91[EUR][1000 genomes]
rs16888184	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16888186	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17684730	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17684748	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17684772	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17684784	0.91[EUR][1000 genomes]
rs17684802	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17684878	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17684884	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17684941	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17751966	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17751977	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752002	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752046	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752106	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17752213	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1903332	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28360570	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34083827	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34171958	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34228698	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34359353	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34425815	0.91[EUR][1000 genomes]
rs34500949	0.88[EUR][1000 genomes]
rs34520435	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34612783	0.91[EUR][1000 genomes]
rs34614087	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34640766	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34866877	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34896026	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34966024	0.86[EUR][1000 genomes]
rs35073881	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35080938	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35081015	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35225175	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35242294	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35251663	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35407078	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35439100	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35440408	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35440822	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35461301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35566812	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35609883	0.91[EUR][1000 genomes]
rs35642890	0.91[EUR][1000 genomes]
rs35696739	0.91[EUR][1000 genomes]
rs35828379	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35851452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35873865	0.91[EUR][1000 genomes]
rs35886823	0.91[EUR][1000 genomes]
rs35986172	0.85[EUR][1000 genomes]
rs36022925	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36037734	0.91[EUR][1000 genomes]
rs36094082	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4299824	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4348308	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4371846	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4415160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4457154	0.91[EUR][1000 genomes]
rs4587171	0.89[EUR][1000 genomes]
rs56037312	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56368885	0.86[EUR][1000 genomes]
rs58980183	0.86[EUR][1000 genomes]
rs59432342	0.91[EUR][1000 genomes]
rs61601344	0.91[EUR][1000 genomes]
rs62411366	0.86[EUR][1000 genomes]
rs62411367	0.88[EUR][1000 genomes]
rs62411372	0.91[EUR][1000 genomes]
rs62411375	0.91[EUR][1000 genomes]
rs62411376	0.91[EUR][1000 genomes]
rs6904535	0.88[EUR][1000 genomes]
rs6905603	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6910414	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6914293	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6918949	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6928104	0.85[EUR][1000 genomes]
rs6930172	0.82[AFR][1000 genomes]
rs6934714	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71564854	0.91[EUR][1000 genomes]
rs71564855	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71564856	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71564861	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71564863	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7758867	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7761501	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7761729	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7766565	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7771085	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7775182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1034418	chr6:56651245-56700449	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56674200-56692400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:56674200-56703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:56679800-56693400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:56679800-56693400	Weak transcription	NH-A	brain
5	chr6:56680000-56689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:56680600-56690400	Weak transcription	HSMMtube	muscle
7	chr6:56681400-56692600	Weak transcription	Osteobl	bone
8	chr6:56681400-56702200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:56681400-56702200	Weak transcription	NHDF-Ad	bronchial
10	chr6:56681600-56702400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:56683000-56692600	Weak transcription	Right Ventricle	heart
12	chr6:56684000-56689200	Weak transcription	HUVEC	blood vessel
13	chr6:56684000-56690600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:56684000-56703800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:56684200-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:56685200-56690400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:56685600-56700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:56686200-56689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:56686200-56690400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:56686200-56690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:56686200-56696200	Weak transcription	HSMM	muscle
22	chr6:56686400-56690000	Weak transcription	Fetal Stomach	stomach
23	chr6:56686400-56690400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:56686400-56690400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:56686400-56692600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:56686400-56692600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:56686400-56692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:56686400-56692800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:56686400-56693000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:56686400-56695800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:56686400-56698800	Weak transcription	Left Ventricle	heart
32	chr6:56686600-56690400	Weak transcription	Fetal Heart	heart
33	chr6:56686600-56692600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:56686800-56690400	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:56686800-56690600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:56687200-56690400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:56687200-56690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:56687200-56690400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:56687200-56690400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:56687200-56692600	Weak transcription	Brain Angular Gyrus	brain
41	chr6:56687200-56692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:56687200-56692600	Weak transcription	A549	lung
43	chr6:56687200-56702600	Weak transcription	NHLF	lung
44	chr6:56687400-56690400	Weak transcription	Brain Anterior Caudate	brain
45	chr6:56687400-56690600	Weak transcription	Psoas Muscle	Psoas
46	chr6:56687400-56692600	Weak transcription	Brain Substantia Nigra	brain
47	chr6:56688000-56688600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr6:56688200-56689600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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