Variant report

Variant	rs189503798
Chromosome Location	chr7:120684243-120684244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120684143..120685841-chr7:120719786..120722280,2	K562	blood:
2	chr7:120683620..120687088-chr7:120702557..120704732,3	K562	blood:
3	chr7:120682952..120685567-chr7:120708911..120710433,2	K562	blood:
4	chr7:120682875..120684877-chr7:120691015..120693627,2	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction

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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673200-120685200	Weak transcription	Left Ventricle	heart
2	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
3	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:120679200-120685200	Weak transcription	Aorta	Aorta
5	chr7:120680600-120685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:120681600-120684400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:120682000-120685200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:120682000-120687000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:120682000-120689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:120682000-120689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:120682000-120689400	Weak transcription	Osteobl	bone
12	chr7:120682200-120687000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:120682200-120687000	Weak transcription	NHDF-Ad	bronchial
14	chr7:120682200-120687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:120682400-120685600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:120682400-120687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:120682400-120687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:120682400-120688000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
21	chr7:120682600-120685400	Weak transcription	Hela-S3	cervix
22	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
23	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
24	chr7:120683000-120686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:120683200-120687000	Weak transcription	HSMM	muscle
26	chr7:120683200-120689400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:120683200-120689400	Weak transcription	Right Ventricle	heart
28	chr7:120683600-120684400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:120683600-120684400	Enhancers	NHLF	lung
30	chr7:120683600-120687200	Enhancers	Liver	Liver
31	chr7:120683800-120684400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:120683800-120689400	Weak transcription	Ovary	ovary
33	chr7:120683800-120689400	Weak transcription	Psoas Muscle	Psoas
34	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:120684000-120684400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:120684000-120684400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
38	chr7:120684200-120684400	Flanking Active TSS	K562	blood
39	chr7:120684200-120685200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:120684200-120687000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:120684200-120687200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:120684200-120689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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