Variant report

Variant	rs57299160
Chromosome Location	chr1:75231080-75231081
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	chr1:75230355..75233919-chr1:75236315..75238196,3	K562	blood:
2	chr1:71544757..71547243-chr1:75230448..75232270,2	K562	blood:

Variant related genes	Relation type
ENSG00000229956	Chromatin interaction
ENSG00000132485	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11538281	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095826	1.00[EUR][1000 genomes]
rs17095828	1.00[EUR][1000 genomes]
rs17095873	1.00[EUR][1000 genomes]
rs28557039	0.87[AFR][1000 genomes]
rs41532045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56801414	1.00[EUR][1000 genomes]
rs56984812	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57413593	1.00[EUR][1000 genomes]
rs57891038	1.00[EUR][1000 genomes]
rs58387974	1.00[EUR][1000 genomes]
rs60099743	1.00[EUR][1000 genomes]
rs60307267	1.00[EUR][1000 genomes]
rs60486335	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61741065	0.89[AFR][1000 genomes]
rs6702642	1.00[EUR][1000 genomes]
rs72968192	1.00[EUR][1000 genomes]
rs72968194	1.00[EUR][1000 genomes]
rs72970024	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970030	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970039	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970040	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970042	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970049	0.83[AFR][1000 genomes]
rs72973608	0.85[AFR][1000 genomes]
rs72973615	0.85[AFR][1000 genomes]
rs72973623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973658	1.00[EUR][1000 genomes]
rs74093752	1.00[EUR][1000 genomes]
rs74095148	1.00[EUR][1000 genomes]
rs74095166	1.00[EUR][1000 genomes]
rs74095179	1.00[EUR][1000 genomes]
rs74095180	1.00[EUR][1000 genomes]
rs74095181	1.00[EUR][1000 genomes]
rs74095182	1.00[EUR][1000 genomes]
rs74095183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:75201400-75231800	Strong transcription	Dnd41	blood
3	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
5	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
9	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
11	chr1:75206200-75232800	Weak transcription	NHLF	lung
12	chr1:75206800-75233600	Weak transcription	Gastric	stomach
13	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
15	chr1:75214400-75232200	Strong transcription	Liver	Liver
16	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
18	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:75219800-75232600	Weak transcription	K562	blood
21	chr1:75221400-75231800	Weak transcription	NHDF-Ad	bronchial
22	chr1:75221400-75232400	Weak transcription	NHEK	skin
23	chr1:75221400-75238000	Weak transcription	A549	lung
24	chr1:75221600-75234600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:75223000-75231200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:75223000-75231200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:75223000-75232600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:75223000-75232800	Weak transcription	Esophagus	oesophagus
31	chr1:75223000-75235200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:75223200-75231400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:75223200-75231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:75223200-75232200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:75223200-75232600	Weak transcription	Fetal Brain Female	brain
36	chr1:75223200-75232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:75223200-75233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:75223600-75232800	Weak transcription	Thymus	Thymus
39	chr1:75223600-75235200	Weak transcription	Spleen	Spleen
40	chr1:75223800-75232800	Weak transcription	HepG2	liver
41	chr1:75223800-75233600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:75224000-75232600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:75224200-75233000	Weak transcription	Fetal Lung	lung
44	chr1:75224400-75231200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:75224600-75232800	Weak transcription	Osteobl	bone
46	chr1:75224800-75231200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:75225000-75231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:75225000-75235000	Weak transcription	Fetal Kidney	kidney
49	chr1:75225400-75232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:75225600-75232800	Weak transcription	Brain Hippocampus Middle	brain

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