Variant report

Variant	rs28453819
Chromosome Location	chr4:26939596-26939597
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	chr4:26930423..26932416-chr4:26938011..26939754,2	K562	blood:
2	chr4:26929049..26932416-chr4:26937175..26939754,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10001152	1.00[AMR][1000 genomes]
rs10003072	1.00[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]
rs11944899	1.00[AMR][1000 genomes]
rs13434414	1.00[AMR][1000 genomes]
rs28368519	1.00[AMR][1000 genomes]
rs28371138	1.00[AMR][1000 genomes]
rs28445792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28447383	1.00[AMR][1000 genomes]
rs28493450	1.00[AMR][1000 genomes]
rs28626184	1.00[AMR][1000 genomes]
rs28638023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647178	1.00[AMR][1000 genomes]
rs28653517	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667144	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688827	1.00[AMR][1000 genomes]
rs28690636	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	1.00[AMR][1000 genomes]
rs73811398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813250	1.00[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	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:26918400-26939800	Weak transcription	Fetal Heart	heart
4	chr4:26922800-26941400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:26923000-26940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:26923000-26942400	Weak transcription	Fetal Brain Male	brain
7	chr4:26923000-26942400	Weak transcription	Left Ventricle	heart
8	chr4:26923200-26941400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:26923200-26942400	Weak transcription	Brain Angular Gyrus	brain
10	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
12	chr4:26923400-26954400	Weak transcription	HSMM	muscle
13	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:26923800-26943800	Weak transcription	Fetal Lung	lung
15	chr4:26924400-26940200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:26924400-26940600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:26924600-26940000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:26933000-26942400	Weak transcription	Right Atrium	heart
20	chr4:26934800-26940800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:26936000-26940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr4:26936000-26940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:26936000-26944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:26936400-26939600	Enhancers	Primary B cells from cord blood	blood
25	chr4:26936400-26939600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:26936800-26939600	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:26937400-26941400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:26937800-26939600	Enhancers	Stomach Mucosa	stomach
29	chr4:26937800-26942200	Enhancers	K562	blood
30	chr4:26938000-26939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:26938000-26945000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:26938400-26940400	Weak transcription	Primary T cells from cord blood	blood
33	chr4:26938400-26941600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:26938600-26969000	Weak transcription	Gastric	stomach
35	chr4:26938800-26941600	Weak transcription	Lung	lung
36	chr4:26938800-26942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:26938800-26945000	Weak transcription	Psoas Muscle	Psoas
38	chr4:26938800-26965600	Weak transcription	NHLF	lung
39	chr4:26939000-26940200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:26939000-26941600	Weak transcription	Spleen	Spleen
41	chr4:26939000-26954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:26939200-26940000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:26939200-26940200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:26939200-26940200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:26939200-26940200	Weak transcription	Ovary	ovary
46	chr4:26939200-26940600	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr4:26939200-26941400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:26939200-26948000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:26939200-26949200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea

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