Variant report

Variant	rs28374283
Chromosome Location	chr4:120180856-120180857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120135683..120138360-chr4:120179744..120182686,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10001498	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050184	1.00[EUR][1000 genomes]
rs34084107	1.00[EUR][1000 genomes]
rs57153990	1.00[EUR][1000 genomes]
rs60058568	1.00[EUR][1000 genomes]
rs72912496	1.00[EUR][1000 genomes]
rs72914405	1.00[EUR][1000 genomes]
rs72914408	1.00[EUR][1000 genomes]
rs72914420	1.00[EUR][1000 genomes]
rs72914448	1.00[EUR][1000 genomes]
rs72914449	1.00[EUR][1000 genomes]
rs72914466	1.00[EUR][1000 genomes]
rs72916519	1.00[EUR][1000 genomes]
rs72920606	1.00[EUR][1000 genomes]
rs7668448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682413	0.94[AFR][1000 genomes];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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	esv2763386	chr4:120143861-120186968	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
5	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:120155600-120186000	Weak transcription	Fetal Heart	heart
7	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:120159800-120188400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:120165800-120187000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:120166000-120183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:120166400-120187200	Weak transcription	Fetal Kidney	kidney
17	chr4:120166400-120189800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
19	chr4:120167000-120182200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:120167000-120184000	Strong transcription	Liver	Liver
21	chr4:120167000-120194400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:120167800-120192400	Weak transcription	Psoas Muscle	Psoas
23	chr4:120170600-120182800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:120170600-120185600	Weak transcription	Stomach Mucosa	stomach
25	chr4:120170600-120192600	Weak transcription	Fetal Thymus	thymus
26	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:120173400-120195200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:120174200-120191800	Weak transcription	Fetal Lung	lung
29	chr4:120174200-120192600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:120174400-120191600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:120175400-120189400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:120175600-120184000	Strong transcription	Adipose Nuclei	Adipose
34	chr4:120175600-120195200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr4:120176000-120186000	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:120176000-120186800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:120176400-120184400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:120176800-120192200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:120176800-120193400	Strong transcription	NHDF-Ad	bronchial
40	chr4:120176800-120194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:120176800-120200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:120176800-120202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:120177000-120191600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:120177000-120192600	Weak transcription	Gastric	stomach
45	chr4:120177000-120194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:120177000-120195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:120177000-120205600	Weak transcription	Aorta	Aorta
48	chr4:120177000-120206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:120177000-120213600	Weak transcription	Lung	lung
50	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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