Variant report

Variant	rs192865051
Chromosome Location	chr7:120668502-120668503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120608520..120610806-chr7:120667744..120669253,2	K562	blood:
2	chr7:120668315..120670686-chr7:120720482..120722440,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120661600-120669400	Genic enhancers	K562	blood
2	chr7:120664600-120672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:120665200-120672800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:120666400-120668600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:120666600-120668600	Weak transcription	NHDF-Ad	bronchial
6	chr7:120666600-120672800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:120666600-120673000	Weak transcription	Small Intestine	intestine
8	chr7:120666600-120683600	Weak transcription	Liver	Liver
9	chr7:120666800-120668800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:120667200-120670400	Enhancers	Fetal Heart	heart
11	chr7:120667200-120672600	Weak transcription	Left Ventricle	heart
12	chr7:120667600-120668600	Enhancers	Psoas Muscle	Psoas
13	chr7:120667600-120668800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:120667600-120669000	Enhancers	NHLF	lung
15	chr7:120668000-120668600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:120668000-120668600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:120668000-120668600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:120668000-120668600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:120668000-120668600	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:120668000-120668600	Enhancers	Fetal Kidney	kidney
21	chr7:120668000-120668600	Enhancers	Ovary	ovary
22	chr7:120668000-120668600	Enhancers	Right Atrium	heart
23	chr7:120668000-120668600	Enhancers	HepG2	liver
24	chr7:120668000-120668800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:120668000-120668800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:120668000-120668800	Enhancers	Fetal Stomach	stomach
27	chr7:120668000-120668800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:120668000-120668800	Enhancers	HSMMtube	muscle
29	chr7:120668000-120668800	Enhancers	Osteobl	bone
30	chr7:120668000-120669000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:120668000-120669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120668000-120669000	Enhancers	Adipose Nuclei	Adipose
33	chr7:120668000-120669000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:120668000-120669200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:120668000-120670600	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:120668200-120668600	Flanking Active TSS	Fetal Lung	lung
37	chr7:120668200-120668600	Enhancers	Placenta	Placenta
38	chr7:120668200-120668600	Enhancers	Right Ventricle	heart
39	chr7:120668200-120668800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:120668200-120668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:120668200-120668800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr7:120668400-120668600	Enhancers	Aorta	Aorta
43	chr7:120668400-120668600	Enhancers	Colon Smooth Muscle	Colon
44	chr7:120668400-120668600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:120668400-120669000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:120668400-120670400	Strong transcription	HSMM	muscle

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