Variant report

Variant	rs57667302
Chromosome Location	chr1:119709632-119709633
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	chr1:119702764..119704743-chr1:119708062..119710551,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17023092	1.00[AMR][1000 genomes]
rs17023108	1.00[AMR][1000 genomes]
rs17023118	1.00[AMR][1000 genomes]
rs17023129	1.00[AMR][1000 genomes]
rs17023211	1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs56083438	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60375409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112264	1.00[AMR][1000 genomes]
rs74112272	1.00[AMR][1000 genomes]
rs74112284	1.00[AMR][1000 genomes]
rs74112509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112512	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114807	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114822	0.94[AFR][1000 genomes];1.00[AMR][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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119684400-119724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:119685000-119732400	Weak transcription	NHEK	skin
3	chr1:119685200-119722600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:119690000-119723600	Weak transcription	Small Intestine	intestine
5	chr1:119698000-119731600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:119698200-119716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:119700600-119710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:119700600-119721000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:119700600-119721000	Weak transcription	Right Ventricle	heart
10	chr1:119702000-119715400	Weak transcription	Brain Germinal Matrix	brain
11	chr1:119702000-119738200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:119702200-119711200	Weak transcription	Aorta	Aorta
13	chr1:119702200-119720800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:119702200-119721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:119702200-119721000	Weak transcription	Spleen	Spleen
16	chr1:119702200-119721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:119702200-119721600	Weak transcription	Gastric	stomach
18	chr1:119702200-119721800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:119702200-119722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:119702200-119725600	Weak transcription	Pancreas	Pancrea
21	chr1:119702400-119711200	Weak transcription	Thymus	Thymus
22	chr1:119702400-119712400	Weak transcription	HepG2	liver
23	chr1:119702400-119719800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:119702400-119720600	Weak transcription	Placenta	Placenta
25	chr1:119702400-119721000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:119702400-119726200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:119702400-119729200	Weak transcription	Fetal Lung	lung
28	chr1:119702400-119731600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:119702600-119721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:119702600-119726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:119702800-119713800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:119702800-119713800	Weak transcription	Lung	lung
33	chr1:119702800-119716400	Weak transcription	GM12878-XiMat	blood
34	chr1:119702800-119721000	Weak transcription	Esophagus	oesophagus
35	chr1:119702800-119740800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:119703200-119714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:119703200-119721200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:119703400-119713800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:119703400-119721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:119703400-119734000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:119703800-119712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:119703800-119715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:119703800-119720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:119703800-119724800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:119704000-119715200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:119704200-119713800	Weak transcription	Liver	Liver
47	chr1:119704200-119716600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:119704200-119720600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:119704200-119721400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:119704200-119721600	Weak transcription	Muscle Satellite Cultured Cells	--

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