Variant report

Variant	rs73683973
Chromosome Location	chr7:28119429-28119430
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	chr7:28118986..28120814-chr7:28123517..28125115,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57516014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	1.00[AMR][1000 genomes]
rs60912742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474284	1.00[AMR][1000 genomes]
rs6975894	1.00[AMR][1000 genomes]
rs73302940	1.00[AMR][1000 genomes]
rs73683932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683933	1.00[AMR][1000 genomes]
rs73683935	1.00[AMR][1000 genomes]
rs73683936	1.00[AMR][1000 genomes]
rs73683937	1.00[AMR][1000 genomes]
rs73683938	1.00[AMR][1000 genomes]
rs73683940	1.00[AMR][1000 genomes]
rs73683941	1.00[AMR][1000 genomes]
rs73683943	1.00[AMR][1000 genomes]
rs73683949	1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs7794172	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28094600-28128600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:28102400-28120600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:28102400-28122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:28102400-28123000	Weak transcription	Hela-S3	cervix
5	chr7:28102400-28176400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:28108800-28134600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:28109800-28124200	Weak transcription	Pancreas	Pancrea
8	chr7:28109800-28128000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:28110800-28122600	Weak transcription	HSMMtube	muscle
10	chr7:28110800-28133800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:28113200-28120600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:28113400-28120200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:28113400-28120400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:28113400-28120400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:28113400-28120800	Weak transcription	Spleen	Spleen
16	chr7:28114200-28119800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:28115600-28121000	Enhancers	Colon Smooth Muscle	Colon
18	chr7:28116000-28119800	Weak transcription	Left Ventricle	heart
19	chr7:28116000-28120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:28116200-28120400	Weak transcription	Osteobl	bone
21	chr7:28117200-28130800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:28117400-28119800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:28117400-28119800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:28117600-28143400	Weak transcription	Aorta	Aorta
25	chr7:28117800-28120000	Weak transcription	Placenta	Placenta
26	chr7:28118000-28120200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:28118000-28120400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:28118000-28120400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:28118000-28120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:28118000-28120600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:28118000-28122400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:28118000-28122800	Weak transcription	Fetal Lung	lung
33	chr7:28118000-28122800	Weak transcription	Fetal Stomach	stomach
34	chr7:28118000-28122800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:28118000-28122800	Weak transcription	HSMM	muscle
36	chr7:28118000-28123200	Weak transcription	Brain Substantia Nigra	brain
37	chr7:28118000-28123200	Weak transcription	Fetal Kidney	kidney
38	chr7:28118000-28124000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:28118000-28127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:28118000-28128800	Weak transcription	NHLF	lung
41	chr7:28118000-28136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:28118200-28119800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:28118200-28119800	Weak transcription	Fetal Heart	heart
44	chr7:28118200-28120400	Weak transcription	Ovary	ovary
45	chr7:28118200-28123000	Weak transcription	NHDF-Ad	bronchial
46	chr7:28118400-28119600	Strong transcription	Primary B cells from cord blood	blood
47	chr7:28118400-28120000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:28118400-28120400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:28118400-28120400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:28118400-28120400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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