Variant report

Variant	rs191716291
Chromosome Location	chr1:184619121-184619122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184605910..184608613-chr1:184618285..184620499,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv947339	chr1:184618714-184641256	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184616000-184619400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:184616200-184619400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:184617600-184619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:184617800-184619200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:184617800-184619600	Enhancers	Left Ventricle	heart
6	chr1:184617800-184620000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:184618000-184619200	Enhancers	Adipose Nuclei	Adipose
8	chr1:184618000-184619200	Enhancers	Brain Anterior Caudate	brain
9	chr1:184618000-184619200	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:184618000-184619200	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:184618000-184619400	Enhancers	NHLF	lung
12	chr1:184618000-184619600	Enhancers	Fetal Heart	heart
13	chr1:184618000-184619600	Enhancers	Right Atrium	heart
14	chr1:184618200-184619200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:184618200-184619200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:184618200-184619200	Enhancers	Psoas Muscle	Psoas
17	chr1:184618200-184619200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:184618200-184619200	Flanking Active TSS	HSMMtube	muscle
19	chr1:184618400-184619200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:184618400-184619200	Enhancers	Right Ventricle	heart
21	chr1:184618600-184619200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:184618600-184619200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:184618600-184619400	Enhancers	NHDF-Ad	bronchial
24	chr1:184618600-184619600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:184618800-184619200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:184618800-184620000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:184619000-184619200	Enhancers	HSMM	muscle
28	chr1:184619000-184619600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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