Variant report

Variant	rs6687307
Chromosome Location	chr1:56920014-56920015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10888972	0.90[EUR][1000 genomes]
rs11206815	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1261410	0.90[EUR][1000 genomes]
rs1889145	0.85[EUR][1000 genomes]
rs1964940	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2184104	0.85[EUR][1000 genomes]
rs2780292	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6421497	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6588633	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6684929	0.85[EUR][1000 genomes]
rs6693179	0.85[EUR][1000 genomes]
rs6698602	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7365290	0.90[EUR][1000 genomes]
rs7365293	0.90[EUR][1000 genomes]
rs7368386	0.90[EUR][1000 genomes]
rs7513178	0.90[EUR][1000 genomes]
rs7513411	0.90[EUR][1000 genomes]
rs7525346	0.90[EUR][1000 genomes]
rs7527084	0.90[EUR][1000 genomes]
rs7535319	0.90[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56912800-56922400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:56912800-56923400	Weak transcription	Spleen	Spleen
4	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
5	chr1:56915000-56922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:56915200-56922400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:56915200-56935800	Weak transcription	NHLF	lung
8	chr1:56916200-56922200	Weak transcription	Lung	lung
9	chr1:56916400-56921200	Weak transcription	Hela-S3	cervix
10	chr1:56916600-56920200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:56916800-56920600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:56917600-56921400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:56918000-56922200	Weak transcription	Small Intestine	intestine
14	chr1:56918000-56922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:56918200-56922000	Weak transcription	A549	lung
16	chr1:56918600-56926600	Weak transcription	Fetal Thymus	thymus
17	chr1:56919000-56923200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:56919200-56927200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:56919200-56930000	Weak transcription	NHDF-Ad	bronchial
20	chr1:56919600-56921400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:56919600-56922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:56919600-56922000	Weak transcription	HepG2	liver
23	chr1:56919600-56922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:56919600-56922200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:56919600-56922200	Weak transcription	Right Atrium	heart
26	chr1:56919600-56922200	Weak transcription	Right Ventricle	heart
27	chr1:56919600-56922400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:56919600-56922600	Weak transcription	Fetal Heart	heart
29	chr1:56919600-56922800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:56919600-56923400	Weak transcription	Left Ventricle	heart
31	chr1:56919600-56923600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:56919800-56922400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:56919800-56922400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:56919800-56922600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:56919800-56923200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:56919800-56926600	Weak transcription	Liver	Liver
37	chr1:56919800-56927000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:56919800-56934200	Weak transcription	Fetal Stomach	stomach

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