Variant report

Variant	rs1687948
Chromosome Location	chr1:94711651-94711652
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	STAT3	chr1:94711510-94711944	MCF10A-Er-Src	breast:	n/a	chr1:94711794-94711815
2	POLR2A	chr1:94710437-94711876	HUVEC	blood vessel:	n/a	n/a
3	STAT3	chr1:94711361-94711978	MCF10A-Er-Src	breast:	n/a	chr1:94711794-94711815
4	STAT3	chr1:94711148-94711931	MCF10A-Er-Src	breast:	n/a	chr1:94711794-94711815
5	POLR2A	chr1:94710886-94713722	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:94711220-94713680	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:94710334-94714607	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:94710993-94713638	HUVEC	blood vessel:	n/a	n/a
9	STAT3	chr1:94711510-94711940	MCF10A-Er-Src	breast:	n/a	chr1:94711794-94711815
10	MYC	chr1:94711365-94711700	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:94710879-94711777	HCT-116	colon:	n/a	n/a
12	POLR2A	chr1:94710704-94713682	HUVEC	blood vessel:	n/a	n/a
13	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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10782977	1.00[AFR][1000 genomes]
rs10782978	1.00[AFR][1000 genomes]
rs1687930	1.00[AFR][1000 genomes]
rs1687931	1.00[AFR][1000 genomes]
rs17111192	1.00[AFR][1000 genomes]
rs1765641	1.00[AFR][1000 genomes]
rs2932955	1.00[AFR][1000 genomes]
rs4847197	1.00[AFR][1000 genomes]
rs6419495	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:37 , 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	chr1:94711000-94711800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:94711000-94711800	Flanking Active TSS	HUVEC	blood vessel
11	chr1:94711000-94712400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:94711000-94713400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:94711000-94713800	Active TSS	Psoas Muscle	Psoas
14	chr1:94711200-94711800	Flanking Active TSS	HMEC	breast
15	chr1:94711200-94711800	Flanking Active TSS	NH-A	brain
16	chr1:94711200-94712200	Active TSS	Fetal Muscle Leg	muscle
17	chr1:94711200-94713800	Active TSS	Left Ventricle	heart
18	chr1:94711200-94713800	Active TSS	Right Ventricle	heart
19	chr1:94711400-94711800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:94711400-94711800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:94711400-94711800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:94711400-94711800	Flanking Active TSS	NHLF	lung
23	chr1:94711400-94712200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:94711400-94712200	Active TSS	Fetal Stomach	stomach
25	chr1:94711400-94712200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:94711400-94713000	Bivalent/Poised TSS	Fetal Kidney	kidney
27	chr1:94711400-94713600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:94711600-94711800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94711600-94712200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94711600-94712200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:94711600-94712200	Active TSS	HSMMtube	muscle
32	chr1:94711600-94713400	Active TSS	NHEK	skin
33	chr1:94711600-94713600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:94711600-94713600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:94711600-94713600	Active TSS	A549	lung
36	chr1:94711600-94713600	Active TSS	NHDF-Ad	bronchial
37	chr1:94711600-94713600	Active TSS	Osteobl	bone

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