Variant report

Variant	rs184147553
Chromosome Location	chr7:120837683-120837684
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:120837334-120838013	K562	blood:	n/a	n/a
2	POLR2A	chr7:120837450-120837939	K562	blood:	n/a	n/a
3	POLR2A	chr7:120837530-120837721	K562	blood:	n/a	n/a
4	USF2	chr7:120837601-120837768	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120811226..120812887-chr7:120837406..120839127,2	K562	blood:
2	chr7:120836283..120838682-chr7:120872699..120875576,2	K562	blood:
3	chr7:120836253..120841319-chr7:120841811..120848062,9	K562	blood:

Variant related genes	Relation type
RNU6-517P	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
14	nsv1015979	chr7:120836198-120881658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv539101	chr7:120836198-120881658	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120819200-120861000	Strong transcription	K562	blood
2	chr7:120823600-120874800	Weak transcription	NHLF	lung
3	chr7:120833200-120838400	Weak transcription	HSMM	muscle
4	chr7:120833600-120846200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:120834000-120838400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:120835600-120837800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:120835600-120839400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:120836200-120851400	Weak transcription	Ovary	ovary
9	chr7:120836400-120838400	Weak transcription	Right Atrium	heart
10	chr7:120836400-120844600	Weak transcription	HSMMtube	muscle
11	chr7:120836400-120851400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:120836400-120851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:120836400-120851600	Weak transcription	Right Ventricle	heart
14	chr7:120836400-120851600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:120836600-120841400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:120836600-120842200	Weak transcription	Aorta	Aorta
17	chr7:120836600-120851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:120836800-120838600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:120836800-120858200	Weak transcription	Adipose Nuclei	Adipose
20	chr7:120837000-120837800	Enhancers	Fetal Brain Male	brain
21	chr7:120837200-120838600	Enhancers	Fetal Heart	heart
22	chr7:120837200-120839600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:120837400-120838600	Enhancers	Psoas Muscle	Psoas
24	chr7:120837600-120838600	Enhancers	Left Ventricle	heart

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