Variant report

Variant	rs55750909
Chromosome Location	chr1:86053765-86053766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:86053479-86053897	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr1:86053697-86053787	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:86053680-86053823	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:86053525-86053928	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:86053466-86054136	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr1:86053560-86053812	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr1:86053613-86053793	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr1:86053615-86053883	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF143	chr1:86053613-86053777	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86051548..86054747-chr1:86058941..86061467,3	K562	blood:

Variant related genes	Relation type
ENSG00000199934	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12566318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55679600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6659670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9658584	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86050600-86054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:86051000-86062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:86051200-86054400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:86052200-86054000	Enhancers	Fetal Brain Male	brain
7	chr1:86052200-86055000	Weak transcription	Osteobl	bone
8	chr1:86053200-86053800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:86053200-86053800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:86053200-86054000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:86053200-86054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:86053200-86054200	Enhancers	Left Ventricle	heart
13	chr1:86053200-86054400	Enhancers	Fetal Heart	heart
14	chr1:86053400-86053800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:86053400-86053800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:86053400-86054000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:86053400-86054000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:86053400-86054000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:86053400-86054000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:86053400-86054000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:86053400-86054000	Enhancers	A549	lung
22	chr1:86053400-86054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:86053400-86054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:86053600-86053800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:86053600-86053800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:86053600-86053800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:86053600-86053800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:86053600-86053800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:86053600-86053800	Enhancers	Adipose Nuclei	Adipose
30	chr1:86053600-86053800	Enhancers	HSMMtube	muscle
31	chr1:86053600-86053800	Enhancers	NH-A	brain
32	chr1:86053600-86053800	Enhancers	NHDF-Ad	bronchial
33	chr1:86053600-86054000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:86053600-86054000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr1:86053600-86054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:86053600-86054000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:86053600-86054000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:86053600-86054000	Enhancers	Fetal Lung	lung
39	chr1:86053600-86054000	Enhancers	Fetal Stomach	stomach
40	chr1:86053600-86054000	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:86053600-86054000	Enhancers	NHLF	lung
42	chr1:86053600-86054200	Enhancers	Fetal Brain Female	brain
43	chr1:86053600-86054200	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:86053600-86054200	Enhancers	Fetal Muscle Leg	muscle
45	chr1:86053600-86054200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:86053600-86054200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:86053600-86054800	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr1:86053600-86055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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