Variant report

Variant	rs28530644
Chromosome Location	chr4:106885498-106885499
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	chr4:106884758..106886311-chr4:106892717..106894485,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10032388	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11097903	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13134201	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28397037	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28408688	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420290	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28453940	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28459481	0.91[EUR][1000 genomes]
rs28480231	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28560134	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28588830	0.91[EUR][1000 genomes]
rs28597911	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28676291	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680557	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680976	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4571330	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4616758	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4627867	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4643812	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4699201	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4699203	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4699204	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4699205	0.91[EUR][1000 genomes]
rs6826402	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6843517	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6855132	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73836924	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73836926	0.96[EUR][1000 genomes]
rs73836933	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73836936	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7663474	0.87[EUR][1000 genomes]
rs7672530	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9790337	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9990974	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106843600-106888400	Weak transcription	Pancreas	Pancrea
2	chr4:106854400-106886800	Weak transcription	GM12878-XiMat	blood
3	chr4:106864800-106886600	Weak transcription	Fetal Kidney	kidney
4	chr4:106868200-106886600	Weak transcription	Fetal Lung	lung
5	chr4:106868400-106892000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:106872200-106888400	Weak transcription	Lung	lung
7	chr4:106873000-106888400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:106878000-106887000	Weak transcription	Psoas Muscle	Psoas
9	chr4:106878000-106888400	Weak transcription	Ovary	ovary
10	chr4:106878600-106887000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:106879000-106887200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:106879000-106888200	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:106879200-106888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:106879800-106886600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:106881000-106890400	Weak transcription	Small Intestine	intestine
16	chr4:106884600-106885600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:106884600-106885600	Enhancers	HMEC	breast
18	chr4:106884600-106885600	Enhancers	HSMM	muscle
19	chr4:106884800-106885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:106884800-106885600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:106884800-106888400	Weak transcription	Right Atrium	heart
22	chr4:106885000-106885600	Enhancers	Fetal Intestine Large	intestine
23	chr4:106885000-106885600	Enhancers	HSMMtube	muscle
24	chr4:106885000-106888200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:106885200-106886400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:106885200-106886600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:106885200-106886800	Weak transcription	Placenta	Placenta
28	chr4:106885200-106887000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:106885400-106885600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:106885400-106885600	Enhancers	Fetal Intestine Small	intestine
31	chr4:106885400-106885600	Enhancers	K562	blood
32	chr4:106885400-106886400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:106885400-106886400	Enhancers	NHEK	skin
34	chr4:106885400-106886600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:106885400-106886600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:106885400-106886600	Weak transcription	Fetal Heart	heart
37	chr4:106885400-106886600	Weak transcription	Hela-S3	cervix
38	chr4:106885400-106886600	Weak transcription	NHDF-Ad	bronchial
39	chr4:106885400-106886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:106885400-106887000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:106885400-106887000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:106885400-106887000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:106885400-106887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:106885400-106888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:106885400-106888400	Weak transcription	Left Ventricle	heart
46	chr4:106885400-106888400	Weak transcription	Right Ventricle	heart
47	chr4:106885400-106909800	Weak transcription	Aorta	Aorta

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