Variant report

Variant	rs556854392
Chromosome Location	chr1:94766879-94766880
allele	G/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	POLR2A	chr1:94765226-94767241	HCT-116	colon:	n/a	n/a
2	SP1	chr1:94765032-94767451	HCT-116	colon:	n/a	chr1:94765317-94765329 chr1:94765318-94765327
3	CEBPB	chr1:94765288-94767446	HCT-116	colon:	n/a	n/a
4	YY1	chr1:94766835-94767166	HCT-116	colon:	n/a	n/a
5	FOSL1	chr1:94765149-94767364	HCT-116	colon:	n/a	chr1:94767015-94767023
6	TCF7L2	chr1:94766608-94767220	HCT-116	colon:	n/a	n/a
7	POLR2A	chr1:94765261-94767058	HCT-116	colon:	n/a	n/a
8	USF1	chr1:94766731-94767467	HCT-116	colon:	n/a	n/a
9	USF1	chr1:94766778-94767456	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:94766715-94767237	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
GAPDHP29	TF binding region

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	nsv946084	chr1:94766692-94770101	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94760600-94770000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:94761200-94767000	Enhancers	NHLF	lung
3	chr1:94761200-94767400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:94761200-94768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94762000-94769400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:94762200-94767200	Enhancers	HepG2	liver
7	chr1:94763400-94767200	Weak transcription	Right Ventricle	heart
8	chr1:94763400-94775800	Weak transcription	Psoas Muscle	Psoas
9	chr1:94764200-94767200	Enhancers	Liver	Liver
10	chr1:94764200-94767200	Enhancers	Osteobl	bone
11	chr1:94764400-94767200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:94764400-94767400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94764400-94767800	Enhancers	HMEC	breast
14	chr1:94764400-94767800	Enhancers	NHDF-Ad	bronchial
15	chr1:94764600-94767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:94764600-94767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:94764800-94767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:94764800-94771200	Enhancers	HUVEC	blood vessel
19	chr1:94764800-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94765000-94767400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:94765000-94768600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:94765200-94767200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:94765200-94767200	Enhancers	Right Atrium	heart
24	chr1:94765200-94767200	Enhancers	NH-A	brain
25	chr1:94765200-94767400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:94765200-94768800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:94765400-94767200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:94765400-94767800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:94765600-94767200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:94765600-94768000	Weak transcription	Ovary	ovary
31	chr1:94765800-94767000	Weak transcription	Left Ventricle	heart
32	chr1:94765800-94767000	Weak transcription	Lung	lung
33	chr1:94765800-94768000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:94765800-94768000	Weak transcription	Pancreas	Pancrea
35	chr1:94765800-94768200	Weak transcription	Gastric	stomach
36	chr1:94765800-94768600	Enhancers	Adipose Nuclei	Adipose
37	chr1:94765800-94769200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:94765800-94770800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:94766000-94767000	Weak transcription	Spleen	Spleen
40	chr1:94766000-94767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:94766000-94767400	Enhancers	Hela-S3	cervix
42	chr1:94766000-94767400	Enhancers	NHEK	skin
43	chr1:94766000-94768200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:94766000-94770000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:94766000-94770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:94766000-94772600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:94766000-94774600	Weak transcription	Fetal Lung	lung
48	chr1:94766200-94767400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:94766600-94767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:94766600-94767400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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