Variant report

Variant	rs540287785
Chromosome Location	chr7:112629157-112629158
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	chr7:112623073..112625908-chr7:112627681..112629451,2	K562	blood:
2	chr7:112628593..112630399-chr7:112648519..112650654,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1798097	chr7:112628373-112636408	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv1813734	chr7:112628373-112636408	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112625000-112631200	Enhancers	Fetal Heart	heart
3	chr7:112625800-112629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:112626800-112630400	Weak transcription	NHEK	skin
5	chr7:112626800-112631400	Enhancers	NH-A	brain
6	chr7:112627200-112631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:112627400-112631600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:112627800-112629800	Weak transcription	NHDF-Ad	bronchial
9	chr7:112627800-112630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:112627800-112630400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:112627800-112635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:112628000-112635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:112628400-112629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:112628400-112629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:112628600-112629200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:112628600-112629600	Weak transcription	HSMM	muscle
17	chr7:112628600-112629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:112628600-112629800	Weak transcription	Osteobl	bone
19	chr7:112628600-112634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:112628600-112635200	Weak transcription	NHLF	lung
21	chr7:112628800-112629400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:112628800-112629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:112628800-112634800	Weak transcription	HSMMtube	muscle
24	chr7:112629000-112629600	Weak transcription	HMEC	breast
25	chr7:112629000-112630400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:112629000-112630400	Enhancers	Stomach Mucosa	stomach

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