Variant report

Variant	rs28620599
Chromosome Location	chr4:6943608-6943609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6916306..6918370-chr4:6943424..6946324,3	K562	blood:
2	chr4:6908111..6910785-chr4:6941101..6945265,3	MCF-7	breast:
3	chr4:6911457..6914297-chr4:6942387..6944279,2	K562	blood:
4	chr4:6942348..6944791-chr4:6958193..6960563,2	MCF-7	breast:
5	chr4:6940421..6944056-chr4:6949146..6952385,3	K562	blood:
6	chr4:6939325..6941725-chr4:6942990..6944855,2	K562	blood:
7	chr4:6941935..6944212-chr4:6988372..6991479,3	K562	blood:
8	chr4:6916306..6917914-chr4:6943424..6945236,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10007838	1.00[AMR][1000 genomes]
rs10020561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025944	1.00[AMR][1000 genomes]
rs10026013	1.00[AMR][1000 genomes]
rs13435398	1.00[AMR][1000 genomes]
rs13435488	1.00[AMR][1000 genomes]
rs28385367	1.00[AFR][1000 genomes]
rs28412715	1.00[AMR][1000 genomes]
rs28461523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28546580	1.00[AMR][1000 genomes]
rs28629411	1.00[AMR][1000 genomes]
rs28631659	1.00[AMR][1000 genomes]
rs28757648	1.00[AMR][1000 genomes]
rs73086431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088550	1.00[AMR][1000 genomes]
rs9291119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994021	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6934400-6946400	Enhancers	Placenta	Placenta
3	chr4:6939000-6945600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:6939000-6946800	Enhancers	Adipose Nuclei	Adipose
5	chr4:6939200-6943800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:6939200-6946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:6939200-6947000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:6939200-6947200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:6939200-6948000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:6939400-6943800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:6939400-6944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:6939400-6945600	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:6939600-6947000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:6939800-6945000	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:6940600-6946400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:6940800-6944000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:6941000-6944000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:6941200-6945400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:6941200-6945800	Enhancers	Spleen	Spleen
20	chr4:6941400-6943800	Genic enhancers	Fetal Intestine Small	intestine
21	chr4:6941400-6944000	Enhancers	K562	blood
22	chr4:6941400-6946400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:6941400-6946400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:6941400-6947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:6941600-6944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:6941600-6944200	Enhancers	Colonic Mucosa	Colon
27	chr4:6941600-6944600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:6941600-6945000	Enhancers	Fetal Muscle Leg	muscle
29	chr4:6941600-6945800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr4:6941600-6946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:6941600-6947000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:6941800-6945400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:6941800-6947000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:6941800-6947000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:6941800-6947800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:6942000-6944000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:6942000-6944600	Enhancers	Brain Hippocampus Middle	brain
38	chr4:6942000-6944600	Enhancers	Colon Smooth Muscle	Colon
39	chr4:6942000-6945200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:6942000-6946000	Weak transcription	Dnd41	blood
41	chr4:6942000-6946600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:6942000-6948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:6942200-6944200	Enhancers	Hela-S3	cervix
44	chr4:6942200-6945400	Enhancers	Right Atrium	heart
45	chr4:6942200-6945600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:6942200-6945600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr4:6942200-6947400	Enhancers	Fetal Intestine Large	intestine
48	chr4:6942400-6943800	Enhancers	Brain Substantia Nigra	brain
49	chr4:6942400-6944200	Weak transcription	Right Ventricle	heart
50	chr4:6942400-6944800	Enhancers	Rectal Mucosa Donor 31	rectum

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