Variant report

Variant	rs545744888
Chromosome Location	chr1:215740825-215740826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215740294..215741084-chr19:3985081..3985884,2	Hela-S3	cervix:
2	chr1:215739388..215743068-chr1:215745972..215749293,5	MCF-7	breast:
3	chr1:215740395..215741072-chr11:62608879..62609640,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000167658	Chromatin interaction
ENSG00000136636	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3411228	chr1:215704606-215742745	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3334079	chr1:215717606-215745691	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3362620	chr1:215739954-215742502	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215739400-215742200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:215739600-215742000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:215739800-215742000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:215739800-215742200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:215739800-215742200	Active TSS	Osteobl	bone
6	chr1:215739800-215742400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:215739800-215742400	Active TSS	Brain Anterior Caudate	brain
8	chr1:215739800-215742600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:215739800-215742800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:215739800-215743200	Active TSS	A549	lung
11	chr1:215739800-215743200	Active TSS	NHDF-Ad	bronchial
12	chr1:215739800-215743400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:215739800-215743400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:215739800-215743600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:215739800-215744400	Active TSS	NHLF	lung
16	chr1:215740000-215741000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:215740000-215741000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:215740000-215741000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:215740000-215741200	Active TSS	Adipose Nuclei	Adipose
20	chr1:215740000-215741800	Active TSS	Placenta	Placenta
21	chr1:215740000-215742000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:215740000-215742000	Active TSS	Liver	Liver
23	chr1:215740000-215742000	Active TSS	Brain Germinal Matrix	brain
24	chr1:215740000-215742000	Active TSS	Fetal Brain Female	brain
25	chr1:215740000-215742000	Active TSS	Fetal Muscle Trunk	muscle
26	chr1:215740000-215742000	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:215740000-215742200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:215740000-215742200	Active TSS	Brain Cingulate Gyrus	brain
29	chr1:215740000-215742200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:215740000-215742200	Active TSS	Brain Substantia Nigra	brain
31	chr1:215740000-215742200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:215740000-215742200	Active TSS	Fetal Kidney	kidney
33	chr1:215740000-215742200	Active TSS	Fetal Stomach	stomach
34	chr1:215740000-215742200	Active TSS	Fetal Thymus	thymus
35	chr1:215740000-215742200	Active TSS	Stomach Smooth Muscle	stomach
36	chr1:215740000-215742200	Active TSS	GM12878-XiMat	blood
37	chr1:215740000-215742200	Active TSS	NHEK	skin
38	chr1:215740000-215742400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:215740000-215742400	Active TSS	Fetal Muscle Leg	muscle
40	chr1:215740000-215742400	Active TSS	Psoas Muscle	Psoas
41	chr1:215740000-215742400	Active TSS	HMEC	breast
42	chr1:215740000-215742400	Active TSS	HSMMtube	muscle
43	chr1:215740000-215742600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:215740000-215742600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:215740000-215742600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:215740000-215742600	Active TSS	HSMM	muscle
47	chr1:215740000-215742800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:215740000-215742800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:215740000-215742800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:215740000-215743000	Active TSS	HUES6 Cell Line	embryonic stem cell

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