Variant report

Variant	rs55913143
Chromosome Location	chr1:10606787-10606788
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	chr1:10591516..10593262-chr1:10606474..10609056,2	K562	blood:
2	chr1:10586788..10588823-chr1:10605231..10607555,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12117392	0.99[EUR][1000 genomes]
rs12120962	0.99[EUR][1000 genomes]
rs12127400	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139169	0.95[EUR][1000 genomes]
rs17035189	0.99[ASN][1000 genomes]
rs6676491	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696891	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7512495	0.97[EUR][1000 genomes]
rs7548453	0.99[ASN][1000 genomes]
rs7555790	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660218	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
3	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
4	chr1:10591400-10609000	Weak transcription	Small Intestine	intestine
5	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:10599800-10608400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:10599800-10610000	Weak transcription	Stomach Mucosa	stomach
11	chr1:10600000-10608200	Weak transcription	Fetal Brain Male	brain
12	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
16	chr1:10600200-10615800	Weak transcription	HSMM	muscle
17	chr1:10601000-10607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:10601000-10613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:10601200-10613400	Weak transcription	Osteobl	bone
20	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:10601400-10610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10601400-10611000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:10601400-10611000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:10601400-10615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:10601600-10607000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10601600-10607000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:10601800-10610000	Weak transcription	Fetal Lung	lung
28	chr1:10601800-10610000	Weak transcription	A549	lung
29	chr1:10601800-10610000	Weak transcription	HUVEC	blood vessel
30	chr1:10601800-10613200	Weak transcription	K562	blood
31	chr1:10601800-10613400	Weak transcription	Right Ventricle	heart
32	chr1:10602000-10606800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:10602000-10606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10602000-10607000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:10602000-10607000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:10602000-10607000	Weak transcription	Left Ventricle	heart
37	chr1:10602000-10607000	Weak transcription	Right Atrium	heart
38	chr1:10602000-10607200	Weak transcription	Pancreas	Pancrea
39	chr1:10602000-10608400	Weak transcription	Fetal Heart	heart
40	chr1:10602000-10609800	Weak transcription	Colonic Mucosa	Colon
41	chr1:10602000-10610000	Weak transcription	Gastric	stomach
42	chr1:10602000-10610200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:10602000-10610200	Weak transcription	HepG2	liver
44	chr1:10602000-10610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:10602000-10610800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:10602000-10610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:10602000-10611400	Weak transcription	Ovary	ovary
48	chr1:10602000-10612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:10602000-10612800	Weak transcription	Fetal Thymus	thymus
50	chr1:10602000-10613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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