Variant report

Variant	rs563654320
Chromosome Location	chr7:121755056-121755057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121716000-121772000	Weak transcription	Osteobl	bone
4	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
7	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
8	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
10	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:121742600-121756200	Weak transcription	Right Ventricle	heart
14	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:121744600-121783200	Weak transcription	Lung	lung
17	chr7:121744800-121760400	Strong transcription	Liver	Liver
18	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:121747200-121757000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:121747200-121762400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:121747800-121756200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:121747800-121756200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:121747800-121760000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:121747800-121760000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
29	chr7:121748000-121755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:121748000-121755600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:121748200-121763600	Weak transcription	HMEC	breast
32	chr7:121749800-121756200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:121750000-121756200	Weak transcription	Fetal Heart	heart
34	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
35	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:121750200-121775400	Weak transcription	Gastric	stomach
37	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:121750600-121756200	Weak transcription	Spleen	Spleen
39	chr7:121750800-121769000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
41	chr7:121751000-121757400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:121751000-121758800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:121751000-121759000	Strong transcription	Adipose Nuclei	Adipose
44	chr7:121751400-121758800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:121751400-121759200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:121751400-121760200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:121751400-121761400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:121751800-121756800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:121752000-121757200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:121752000-121757200	Strong transcription	Fetal Muscle Trunk	muscle

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