Variant report

Variant	rs539954071
Chromosome Location	chr1:94711967-94711968
allele	A/G
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	STAT3	chr1:94711361-94711978	MCF10A-Er-Src	breast:	n/a	chr1:94711794-94711815
2	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr1:94711799-94713976	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:94710307-94712948	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94701840..94705805-chr1:94711160..94713439,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231363	TF binding region
ENSG00000137962	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3376734	chr1:94711789-94714337	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94703600-94712000	Weak transcription	HSMM	muscle
2	chr1:94709000-94712200	Enhancers	Liver	Liver
3	chr1:94709800-94712400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:94709800-94712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:94709800-94713600	Active TSS	Right Atrium	heart
6	chr1:94710000-94713600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:94710600-94712200	Active TSS	Adipose Nuclei	Adipose
8	chr1:94710600-94712200	Enhancers	HepG2	liver
9	chr1:94711000-94712400	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
12	chr1:94711200-94712200	Active TSS	Fetal Muscle Leg	muscle
13	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
14	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
15	chr1:94711400-94712200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr1:94711400-94712200	Active TSS	Fetal Stomach	stomach
17	chr1:94711400-94712200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:94711600-94712200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:94711600-94712200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:94711600-94712200	Active TSS	HSMMtube	muscle
23	chr1:94711600-94713400	Active TSS	NHEK	skin
24	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:94711600-94713600	Active TSS	A549	lung
27	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
28	chr1:94711600-94713600	Active TSS	Osteobl	bone
29	chr1:94711800-94712000	Active TSS	Fetal Muscle Trunk	muscle
30	chr1:94711800-94712200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr1:94711800-94712200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:94711800-94712200	Active TSS	NHLF	lung
33	chr1:94711800-94712800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:94711800-94713200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:94711800-94713400	Active TSS	HMEC	breast
36	chr1:94711800-94713400	Active TSS	HUVEC	blood vessel
37	chr1:94711800-94713400	Active TSS	NH-A	brain
38	chr1:94711800-94713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:94711800-94713600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:94711800-94713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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