Variant report

Variant	rs72740234
Chromosome Location	chr1:193178277-193178278
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	chr1:193167996..193169859-chr1:193176055..193178338,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12405438	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12405461	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12411221	0.88[AMR][1000 genomes]
rs41302543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722414	0.88[AMR][1000 genomes];0.92[EUR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
2	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
4	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
5	chr1:193156600-193180200	Weak transcription	NH-A	brain
6	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:193159800-193185000	Weak transcription	Fetal Brain Male	brain
8	chr1:193160200-193180200	Weak transcription	HSMMtube	muscle
9	chr1:193162000-193186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:193162000-193186200	Weak transcription	Placenta	Placenta
11	chr1:193162200-193180400	Weak transcription	NHLF	lung
12	chr1:193162200-193183000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:193162200-193186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:193162400-193186000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:193163000-193180000	Weak transcription	Hela-S3	cervix
16	chr1:193166800-193181400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:193167800-193210400	Weak transcription	Ovary	ovary
18	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
19	chr1:193168800-193184800	Weak transcription	Fetal Stomach	stomach
20	chr1:193169000-193190800	Weak transcription	Brain Anterior Caudate	brain
21	chr1:193169400-193186400	Weak transcription	Left Ventricle	heart
22	chr1:193170000-193186200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:193170800-193178400	Weak transcription	HepG2	liver
26	chr1:193172600-193185600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:193172800-193180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:193172800-193186200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:193173400-193186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:193173600-193181000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:193174000-193183000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:193174200-193178800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr1:193174600-193178400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:193174600-193180200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:193174800-193180400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:193174800-193186000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:193175600-193178600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:193175600-193182600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:193175600-193183000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:193175800-193180000	Weak transcription	HMEC	breast
41	chr1:193175800-193180200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:193175800-193180200	Weak transcription	NHDF-Ad	bronchial
43	chr1:193175800-193185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:193176200-193182000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:193176400-193178800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:193176400-193180000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:193176400-193180000	Weak transcription	Dnd41	blood
48	chr1:193176400-193180200	Weak transcription	NHEK	skin
49	chr1:193176400-193180200	Weak transcription	Osteobl	bone
50	chr1:193176600-193180000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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