Variant report

Variant	rs57129742
Chromosome Location	chr1:59430793-59430794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59246920..59249651-chr1:59428751..59431071,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17118526	1.00[AMR][1000 genomes]
rs4647011	1.00[AMR][1000 genomes]
rs4647013	1.00[AMR][1000 genomes]
rs4647019	1.00[AMR][1000 genomes]
rs58010530	1.00[AMR][1000 genomes]
rs59100869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59165416	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078118	1.00[AMR][1000 genomes]
rs74078124	1.00[AMR][1000 genomes]
rs74078128	1.00[AMR][1000 genomes]
rs74078130	1.00[AMR][1000 genomes]
rs74078639	1.00[AMR][1000 genomes]
rs7527545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59416800-59431600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:59424200-59431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:59430000-59432400	Enhancers	Stomach Mucosa	stomach
4	chr1:59430000-59432600	Enhancers	Gastric	stomach
5	chr1:59430000-59433600	Enhancers	GM12878-XiMat	blood
6	chr1:59430000-59434000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:59430000-59435000	Enhancers	Dnd41	blood
8	chr1:59430000-59435200	Enhancers	Pancreas	Pancrea
9	chr1:59430000-59436000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:59430200-59431000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:59430200-59432000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:59430200-59432000	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:59430200-59433800	Enhancers	Primary B cells from cord blood	blood
14	chr1:59430200-59434000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:59430200-59434400	Enhancers	Esophagus	oesophagus
16	chr1:59430200-59435000	Enhancers	Fetal Intestine Large	intestine
17	chr1:59430200-59435000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:59430200-59435800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:59430400-59430800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:59430400-59431000	Enhancers	Adipose Nuclei	Adipose
21	chr1:59430400-59431000	Enhancers	Placenta	Placenta
22	chr1:59430400-59431000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:59430400-59431000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:59430400-59431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:59430400-59431400	Enhancers	Liver	Liver
26	chr1:59430400-59431400	Weak transcription	Fetal Thymus	thymus
27	chr1:59430400-59431600	Weak transcription	Spleen	Spleen
28	chr1:59430400-59434400	Enhancers	Psoas Muscle	Psoas
29	chr1:59430400-59435000	Enhancers	Primary T cells from cord blood	blood
30	chr1:59430600-59430800	Weak transcription	Fetal Intestine Small	intestine
31	chr1:59430600-59431000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:59430600-59431000	Enhancers	HepG2	liver
33	chr1:59430600-59431800	Weak transcription	Lung	lung
34	chr1:59430600-59434000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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