Variant report

Variant	rs73811398
Chromosome Location	chr4:26888747-26888748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10001152	1.00[AMR][1000 genomes]
rs10003072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10004586	1.00[AMR][1000 genomes]
rs10029816	1.00[AMR][1000 genomes]
rs10031739	1.00[AMR][1000 genomes]
rs10213141	1.00[AMR][1000 genomes]
rs10213530	1.00[AMR][1000 genomes]
rs13434414	1.00[AMR][1000 genomes]
rs28368519	1.00[AMR][1000 genomes]
rs28445792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28447383	1.00[AMR][1000 genomes]
rs28453819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28626184	1.00[AMR][1000 genomes]
rs28638023	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647178	1.00[AMR][1000 genomes]
rs28653517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688827	1.00[AMR][1000 genomes]
rs28690636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28733863	1.00[AMR][1000 genomes]
rs28819422	1.00[AMR][1000 genomes]
rs28850050	1.00[AMR][1000 genomes]
rs4422408	1.00[AMR][1000 genomes]
rs56169951	1.00[AMR][1000 genomes]
rs6821940	1.00[AMR][1000 genomes]
rs6848664	1.00[AMR][1000 genomes]
rs73811393	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813253	1.00[AMR][1000 genomes]
rs9990447	1.00[AMR][1000 genomes]
rs9997247	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26875600-26904600	Weak transcription	Brain Anterior Caudate	brain
2	chr4:26880600-26902400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:26880600-26921600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:26881800-26896200	Weak transcription	HMEC	breast
5	chr4:26882000-26897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:26882200-26889000	Weak transcription	K562	blood
7	chr4:26883400-26892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:26885400-26889200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr4:26885400-26889200	Flanking Active TSS	Dnd41	blood
10	chr4:26885800-26890800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:26885800-26903600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:26886000-26894400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:26886000-26896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:26886400-26890600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:26886600-26899400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:26886600-26921600	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:26887000-26889000	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:26887000-26889200	Enhancers	Brain Substantia Nigra	brain
19	chr4:26887000-26891000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:26887200-26888800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:26887600-26888800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr4:26887600-26889200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:26887800-26888800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:26887800-26889200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:26887800-26889200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:26887800-26889200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:26887800-26889800	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr4:26888000-26889200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr4:26888000-26889200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:26888000-26889200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr4:26888000-26889200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr4:26888000-26889200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:26888200-26889200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:26888200-26889200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:26888200-26889800	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:26888200-26891600	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:26888400-26889000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:26888400-26889200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:26888400-26889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:26888400-26889400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:26888400-26891200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:26888400-26901600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:26888600-26889000	Enhancers	Primary B cells from cord blood	blood
44	chr4:26888600-26889000	Weak transcription	Thymus	Thymus
45	chr4:26888600-26889200	Active TSS	Primary T cells fromperipheralblood	blood
46	chr4:26888600-26889200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:26888600-26889200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:26888600-26889200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:26888600-26889200	Enhancers	GM12878-XiMat	blood
50	chr4:26888600-26890600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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