Variant report

Variant	rs28362430
Chromosome Location	chr2:10579300-10579301
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
2	chr2:10578009..10580589-chr2:10689123..10691393,2	K562	blood:
3	chr2:10211139..10213662-chr2:10577265..10580581,3	K562	blood:
4	chr2:10576627..10579490-chr2:10637993..10639882,2	K562	blood:
5	chr2:10576992..10579344-chr2:10785593..10787982,2	K562	blood:
6	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
7	chr2:10578985..10581205-chr2:10807616..10809942,2	K562	blood:
8	chr2:10222153..10224864-chr2:10577181..10579965,2	K562	blood:
9	chr2:10167700..10169244-chr2:10577457..10579553,2	K562	blood:
10	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:
11	chr2:10260358..10263740-chr2:10578829..10581439,6	K562	blood:
12	chr2:10578985..10580934-chr2:10807616..10809807,2	K562	blood:
13	chr2:10574850..10580139-chr2:10582463..10585343,4	MCF-7	breast:
14	chr2:10444615..10447130-chr2:10577332..10580177,3	K562	blood:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28362370	1.00[AMR][1000 genomes]
rs28362389	1.00[AMR][1000 genomes]
rs28362391	1.00[AMR][1000 genomes]
rs28362392	1.00[AMR][1000 genomes]
rs28362395	1.00[AMR][1000 genomes]
rs28362400	1.00[AMR][1000 genomes]
rs28362424	1.00[AMR][1000 genomes]
rs28362425	1.00[AMR][1000 genomes]
rs28362431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56853887	1.00[AMR][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	chr2:10568800-10579400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:10568800-10579800	Weak transcription	Left Ventricle	heart
5	chr2:10572800-10579400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:10572800-10579400	Weak transcription	HSMM	muscle
7	chr2:10572800-10579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:10573000-10579400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:10573000-10579400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:10573000-10579400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:10573000-10579600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:10573000-10579600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:10573000-10579800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:10573000-10579800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:10573000-10579800	Weak transcription	Right Ventricle	heart
16	chr2:10573000-10580000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
18	chr2:10573200-10579400	Weak transcription	Pancreas	Pancrea
19	chr2:10573400-10579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:10573400-10579400	Weak transcription	HMEC	breast
21	chr2:10573400-10579600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:10573400-10579800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:10573600-10579800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:10573600-10580200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:10573600-10580800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:10573800-10579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:10573800-10579800	Weak transcription	Fetal Kidney	kidney
28	chr2:10573800-10580200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:10574400-10581600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:10574600-10579600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10574800-10579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:10575000-10579800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:10575000-10580200	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:10575200-10579400	Weak transcription	Primary B cells from cord blood	blood
36	chr2:10575200-10579400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:10575200-10579400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:10575200-10579400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:10575200-10579600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:10575200-10579600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:10575200-10579600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:10575200-10579600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:10575200-10579800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:10575200-10579800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:10575200-10579800	Weak transcription	Colonic Mucosa	Colon
46	chr2:10575200-10580000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:10575200-10580000	Weak transcription	Fetal Brain Male	brain
48	chr2:10575200-10580000	Weak transcription	Hela-S3	cervix
49	chr2:10575200-10580400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:10575200-10581600	Weak transcription	Psoas Muscle	Psoas

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