Variant report

Variant	rs28703679
Chromosome Location	chr4:76899574-76899575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10222911	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050176	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10856871	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11097192	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12500200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12511861	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554015	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001275	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001284	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1910907	1.00[ASN][1000 genomes]
rs2869461	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733236	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859412	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55964684	0.85[ASN][1000 genomes]
rs56039229	0.85[ASN][1000 genomes]
rs56316945	0.85[ASN][1000 genomes]
rs58909712	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59559903	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61279846	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6532084	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66477189	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67210456	1.00[ASN][1000 genomes]
rs67297326	1.00[ASN][1000 genomes]
rs67413521	0.85[ASN][1000 genomes]
rs67687266	0.88[ASN][1000 genomes]
rs6828744	1.00[ASN][1000 genomes]
rs6834291	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6847716	1.00[ASN][1000 genomes]
rs6857358	0.97[ASN][1000 genomes]
rs72651387	1.00[ASN][1000 genomes]
rs7349626	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7670156	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7671125	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696286	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:76867800-76900000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:76867800-76903800	Strong transcription	Fetal Thymus	thymus
5	chr4:76868000-76899800	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:76868000-76903000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:76868000-76903000	Strong transcription	Stomach Smooth Muscle	stomach
8	chr4:76868000-76903800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr4:76868200-76903400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:76868200-76903600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:76868400-76903600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:76868400-76903800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:76868400-76903800	Strong transcription	Placenta	Placenta
14	chr4:76869200-76900200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:76872200-76902800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:76883800-76899800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr4:76883800-76903000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:76884000-76902800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:76884200-76899600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr4:76884200-76899800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:76884200-76902800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:76884200-76903800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr4:76884600-76899800	Strong transcription	NH-A	brain
24	chr4:76884600-76899800	Strong transcription	Osteobl	bone
25	chr4:76884600-76902800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:76884600-76902800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:76884600-76902800	Strong transcription	Adipose Nuclei	Adipose
28	chr4:76884600-76903400	Strong transcription	HMEC	breast
29	chr4:76884600-76903400	Strong transcription	HSMM	muscle
30	chr4:76884600-76903600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:76884600-76903600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:76884600-76903800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:76884800-76899800	Strong transcription	HepG2	liver
34	chr4:76884800-76900000	Strong transcription	Brain Hippocampus Middle	brain
35	chr4:76884800-76900000	Strong transcription	Left Ventricle	heart
36	chr4:76884800-76900800	Strong transcription	K562	blood
37	chr4:76884800-76902200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:76884800-76902600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:76884800-76903600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:76884800-76903600	Strong transcription	NHEK	skin
41	chr4:76885000-76903000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr4:76885200-76902600	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:76885200-76903800	Strong transcription	Fetal Intestine Large	intestine
44	chr4:76885400-76902600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr4:76885400-76903600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:76887000-76902600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:76887000-76903800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:76887200-76903400	Strong transcription	Dnd41	blood
49	chr4:76887200-76903600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:76887200-76903800	Strong transcription	H9 Cell Line	embryonic stem cell

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