Variant report

Variant	rs73193830
Chromosome Location	chr7:105478976-105478977
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	chr7:105467716..105469978-chr7:105478235..105481087,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12672355	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12673582	0.98[EUR][1000 genomes]
rs2158896	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2190449	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730109	1.00[EUR][1000 genomes]
rs4730111	0.98[EUR][1000 genomes]
rs4730112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59968213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60969020	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73193826	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73193837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73193838	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs997438	0.98[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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
3	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:105469000-105479200	Weak transcription	Right Atrium	heart
5	chr7:105471600-105479200	Weak transcription	Fetal Thymus	thymus
6	chr7:105471600-105479800	Weak transcription	Gastric	stomach
7	chr7:105471800-105483600	Weak transcription	Pancreas	Pancrea
8	chr7:105471800-105484000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:105472400-105479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:105472400-105489800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:105472600-105479000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
13	chr7:105473200-105479000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:105473200-105490000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:105473400-105484400	Weak transcription	Hela-S3	cervix
16	chr7:105473600-105479200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:105473800-105479200	Weak transcription	A549	lung
18	chr7:105473800-105480400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:105473800-105481000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:105477400-105480000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:105477600-105480800	Enhancers	Fetal Brain Male	brain
22	chr7:105477800-105479400	Enhancers	Adipose Nuclei	Adipose
23	chr7:105477800-105480000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:105478000-105479000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:105478000-105479000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr7:105478000-105479200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:105478000-105479200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr7:105478000-105479200	Flanking Active TSS	Fetal Brain Female	brain
29	chr7:105478000-105479400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:105478000-105479400	Enhancers	Brain Angular Gyrus	brain
31	chr7:105478000-105479600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:105478000-105479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:105478000-105479600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:105478000-105480000	Enhancers	Brain Substantia Nigra	brain
35	chr7:105478000-105480000	Enhancers	Fetal Heart	heart
36	chr7:105478000-105480000	Enhancers	Left Ventricle	heart
37	chr7:105478000-105480000	Enhancers	Right Ventricle	heart
38	chr7:105478000-105480400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:105478000-105481000	Enhancers	Lung	lung
40	chr7:105478000-105481800	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:105478000-105482200	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:105478200-105479000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:105478200-105479000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:105478200-105479000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:105478200-105479400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:105478200-105479400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:105478200-105479400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:105478200-105479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:105478200-105479600	Enhancers	HSMM	muscle
50	chr7:105478200-105480000	Enhancers	Rectal Mucosa Donor 31	rectum

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