Variant report

Variant	rs73028838
Chromosome Location	chr1:167013003-167013004
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:167012456..167017091-chr1:167019887..167022128,4	K562	blood:
2	chr1:166844981..166846791-chr1:167011977..167013580,2	MCF-7	breast:
3	chr1:166807506..166810186-chr1:167012787..167014455,2	MCF-7	breast:
4	chr1:167012979..167014978-chr1:167017542..167019812,2	K562	blood:

Variant related genes	Relation type
ENSG00000227907	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16858259	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41269700	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55728917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55778013	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55874020	0.94[EUR][1000 genomes]
rs56114212	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56190430	0.88[AMR][1000 genomes]
rs56252399	0.84[EUR][1000 genomes]
rs56259579	0.94[EUR][1000 genomes]
rs57274627	0.84[EUR][1000 genomes]
rs59862115	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6699306	0.94[EUR][1000 genomes]
rs73026741	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73026777	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73026802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73028882	0.94[EUR][1000 genomes]
rs73028886	0.94[EUR][1000 genomes]
rs73028893	0.89[EUR][1000 genomes]
rs73028896	0.94[EUR][1000 genomes]
rs74119526	0.93[AMR][1000 genomes];1.00[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	nsv1004148	chr1:166951869-167016311	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2750815	chr1:166953866-167180342	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv519114	chr1:167003539-167015184	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:167012200-167013800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:167012600-167013200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr1:167012800-167013200	Active TSS	Primary T cells fromperipheralblood	blood
4	chr1:167012800-167013200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr1:167012800-167013200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr1:167012800-167013400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:167012800-167013400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr1:167012800-167013400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:167012800-167013800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:167012800-167013800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:167012800-167013800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:167012800-167013800	Active TSS	Stomach Mucosa	stomach
13	chr1:167012800-167014000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:167012800-167014200	Flanking Active TSS	Dnd41	blood
15	chr1:167013000-167013200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:167013000-167013200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:167013000-167013200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:167013000-167013200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:167013000-167013200	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr1:167013000-167013200	Enhancers	Brain Substantia Nigra	brain
21	chr1:167013000-167013200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr1:167013000-167013200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:167013000-167013200	Flanking Active TSS	Fetal Heart	heart
24	chr1:167013000-167013200	Flanking Active TSS	Fetal Kidney	kidney
25	chr1:167013000-167013200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:167013000-167013200	Enhancers	Placenta	Placenta
27	chr1:167013000-167013200	Active TSS	Fetal Stomach	stomach
28	chr1:167013000-167013200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:167013000-167013200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:167013000-167013200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:167013000-167013200	Active TSS	Thymus	Thymus
32	chr1:167013000-167013200	Bivalent Enhancer	HSMMtube	muscle
33	chr1:167013000-167013200	Enhancers	Osteobl	bone
34	chr1:167013000-167013400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:167013000-167013400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:167013000-167013400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:167013000-167013400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:167013000-167013400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:167013000-167013400	Flanking Active TSS	Liver	Liver
40	chr1:167013000-167013400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:167013000-167013400	Active TSS	Colonic Mucosa	Colon
42	chr1:167013000-167013400	Active TSS	Fetal Brain Male	brain
43	chr1:167013000-167013400	Active TSS	Lung	lung
44	chr1:167013000-167013400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr1:167013000-167013400	Active TSS	Right Ventricle	heart
46	chr1:167013000-167013400	Bivalent/Poised TSS	A549	lung
47	chr1:167013000-167013400	Flanking Active TSS	GM12878-XiMat	blood
48	chr1:167013000-167013400	Flanking Active TSS	NHEK	skin
49	chr1:167013000-167013600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:167013000-167013600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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