Variant report

Variant	rs74076324
Chromosome Location	chr1:56962494-56962495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10888966	1.00[EUR][1000 genomes]
rs17114018	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58527246	1.00[EUR][1000 genomes]
rs60328132	1.00[EUR][1000 genomes]
rs60902969	1.00[EUR][1000 genomes]
rs6670641	1.00[EUR][1000 genomes]
rs74076306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
3	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:56957800-56963800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:56957800-56963800	Weak transcription	Small Intestine	intestine
7	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
9	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:56958200-56963000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:56958200-56963400	Strong transcription	Fetal Muscle Leg	muscle
13	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56958400-56968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:56958600-56962800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr1:56958600-56968000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:56958800-56964000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:56958800-56971600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:56959000-56966200	Strong transcription	HSMM	muscle
20	chr1:56959200-56962600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:56959200-56962600	Strong transcription	Colon Smooth Muscle	Colon
22	chr1:56959200-56962800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:56959200-56968000	Strong transcription	Osteobl	bone
24	chr1:56959200-56968400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:56959200-56969000	Genic enhancers	Liver	Liver
26	chr1:56959400-56962600	Strong transcription	Aorta	Aorta
27	chr1:56959400-56963200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:56959400-56972000	Strong transcription	Fetal Stomach	stomach
29	chr1:56959600-56963400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:56959600-56963600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:56959600-56967200	Weak transcription	Fetal Brain Male	brain
32	chr1:56959800-56962600	Strong transcription	Fetal Thymus	thymus
33	chr1:56959800-56962800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:56959800-56963600	Strong transcription	NHLF	lung
35	chr1:56959800-56972800	Weak transcription	Dnd41	blood
36	chr1:56960000-56962600	Genic enhancers	Left Ventricle	heart
37	chr1:56960000-56964200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:56960400-56967200	Weak transcription	K562	blood
39	chr1:56960800-56962600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr1:56960800-56962800	Strong transcription	Fetal Kidney	kidney
41	chr1:56960800-56963000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:56960800-56976000	Genic enhancers	HepG2	liver
43	chr1:56961000-56962600	Strong transcription	Fetal Intestine Small	intestine
44	chr1:56961000-56962600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:56961000-56963000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:56961000-56963000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:56961000-56963600	Strong transcription	Thymus	Thymus
48	chr1:56961000-56964200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:56961200-56963000	Strong transcription	A549	lung
50	chr1:56961200-56963600	Strong transcription	Fetal Intestine Large	intestine

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