Variant report

Variant	rs28362429
Chromosome Location	chr2:10579573-10579574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10578009..10580589-chr2:10689123..10691393,2	K562	blood:
2	chr2:10211139..10213662-chr2:10577265..10580581,3	K562	blood:
3	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
4	chr2:10578985..10581205-chr2:10807616..10809942,2	K562	blood:
5	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:
6	chr2:10222153..10224864-chr2:10577181..10579965,2	K562	blood:
7	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
8	chr2:10260358..10263740-chr2:10578829..10581439,6	K562	blood:
9	chr2:10578985..10580934-chr2:10807616..10809807,2	K562	blood:
10	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
11	chr2:10444615..10447130-chr2:10577332..10580177,3	K562	blood:
12	chr2:10273861..10275654-chr2:10579400..10581613,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000233502	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28362390	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58248202	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	49 gene(s)	inside rSNPs	diseases
4	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10567200-10579800	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:10568600-10579800	Weak transcription	Aorta	Aorta
3	chr2:10568800-10579800	Weak transcription	Left Ventricle	heart
4	chr2:10572800-10579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:10573000-10579600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:10573000-10579600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10573000-10579800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:10573000-10579800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:10573000-10579800	Weak transcription	Right Ventricle	heart
10	chr2:10573000-10580000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
12	chr2:10573400-10579600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:10573400-10579800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:10573600-10579800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:10573600-10580200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:10573600-10580800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:10573800-10579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:10573800-10579800	Weak transcription	Fetal Kidney	kidney
19	chr2:10573800-10580200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:10574400-10581600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:10574600-10579600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10574800-10579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:10575000-10579800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:10575000-10580200	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:10575200-10579600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:10575200-10579600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:10575200-10579600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:10575200-10579600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:10575200-10579800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:10575200-10579800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:10575200-10579800	Weak transcription	Colonic Mucosa	Colon
33	chr2:10575200-10580000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:10575200-10580000	Weak transcription	Fetal Brain Male	brain
35	chr2:10575200-10580000	Weak transcription	Hela-S3	cervix
36	chr2:10575200-10580400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:10575200-10581600	Weak transcription	Psoas Muscle	Psoas
38	chr2:10575400-10579600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:10575400-10579800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:10575400-10579800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:10575400-10580400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:10575600-10579600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:10575600-10579800	Weak transcription	Stomach Mucosa	stomach
44	chr2:10575800-10580000	Weak transcription	Fetal Lung	lung
45	chr2:10575800-10581600	Weak transcription	Fetal Heart	heart
46	chr2:10576000-10579800	Weak transcription	Small Intestine	intestine
47	chr2:10576200-10579800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:10577400-10579800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:10577400-10580000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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