Variant report

Variant	rs530989152
Chromosome Location	chr7:80288786-80288787
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80288156..80289657-chr7:80291382..80293831,2	K562	blood:
2	chr7:80057613..80058392-chr7:80288390..80289288,3	MCF-7	breast:
3	chr7:80057471..80058066-chr7:80288234..80289022,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229436	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv888533	chr7:80272568-80289765	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv888535	chr7:80277632-80303350	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv607684	chr7:80286344-80289439	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv888536	chr7:80287358-80297720	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3366118	chr7:80288366-80290864	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
3	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:80282200-80291800	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:80282800-80291000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:80283200-80292600	Genic enhancers	Adipose Nuclei	Adipose
8	chr7:80284600-80291600	Weak transcription	Spleen	Spleen
9	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
10	chr7:80285200-80291200	Weak transcription	Left Ventricle	heart
11	chr7:80285400-80288800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:80285600-80288800	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:80285800-80291600	Weak transcription	Right Ventricle	heart
14	chr7:80285800-80308200	Weak transcription	Liver	Liver
15	chr7:80286400-80289000	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:80287200-80290200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:80287800-80288800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80287800-80288800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:80288200-80288800	Enhancers	Fetal Heart	heart
20	chr7:80288200-80288800	Enhancers	NHDF-Ad	bronchial
21	chr7:80288200-80288800	Enhancers	NHLF	lung
22	chr7:80288200-80289000	Enhancers	HSMMtube	muscle
23	chr7:80288400-80288800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:80288400-80288800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:80288400-80289000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:80288400-80289000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:80288400-80289000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:80288400-80289000	Enhancers	Fetal Lung	lung
29	chr7:80288400-80289000	Enhancers	Hela-S3	cervix
30	chr7:80288600-80288800	Enhancers	HSMM	muscle
31	chr7:80288600-80289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:80288600-80289000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:80288600-80289000	Enhancers	Osteobl	bone
34	chr7:80288600-80290000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:80288600-80306800	Weak transcription	Lung	lung

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