Variant report

Variant	rs7779992
Chromosome Location	chr7:80791113-80791114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80786547..80788746-chr7:80790222..80791891,2	MCF-7	breast:
2	chr7:80545430..80553146-chr7:80785929..80793151,13	MCF-7	breast:
3	chr7:80788038..80791953-chr7:80793633..80797401,3	MCF-7	breast:
4	chr7:80546824..80550725-chr7:80786794..80792719,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1024548	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10264882	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972689	0.93[EUR][1000 genomes]
rs11974102	0.92[EUR][1000 genomes]
rs11975023	0.93[EUR][1000 genomes]
rs11975948	0.93[EUR][1000 genomes]
rs11976314	0.93[EUR][1000 genomes]
rs11977048	0.93[EUR][1000 genomes]
rs12666916	0.89[EUR][1000 genomes]
rs13228254	0.93[ASN][1000 genomes]
rs13242185	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397008	0.94[EUR][1000 genomes]
rs1397009	0.88[EUR][1000 genomes]
rs1509912	0.93[EUR][1000 genomes]
rs1605917	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17616148	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859678	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327704	0.82[EUR][1000 genomes]
rs34252288	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141375	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56034302	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467590	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956639	0.93[ASN][1000 genomes]
rs6957595	0.93[ASN][1000 genomes]
rs6967382	0.88[EUR][1000 genomes]
rs6967567	0.88[EUR][1000 genomes]
rs7776566	0.92[EUR][1000 genomes]
rs7778696	0.93[EUR][1000 genomes]
rs7788722	0.86[EUR][1000 genomes]
rs7794312	0.93[EUR][1000 genomes]
rs7794577	0.94[EUR][1000 genomes]
rs7794595	0.93[EUR][1000 genomes]
rs7795202	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7797263	0.88[EUR][1000 genomes]
rs7798421	0.94[EUR][1000 genomes]
rs7802063	0.91[EUR][1000 genomes]
rs7809013	0.94[EUR][1000 genomes]
rs7810096	0.93[EUR][1000 genomes]
rs980966	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80785200-80796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:80787600-80792600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80788600-80791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:80789600-80791200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:80789600-80792800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:80790000-80792400	Enhancers	HSMM	muscle
7	chr7:80790000-80792600	Enhancers	HSMMtube	muscle
8	chr7:80790000-80793000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:80790200-80791400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:80790400-80793400	Enhancers	A549	lung
11	chr7:80790600-80791200	Enhancers	NH-A	brain
12	chr7:80790600-80791400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:80790600-80791400	Enhancers	Hela-S3	cervix
14	chr7:80790600-80791400	Enhancers	NHLF	lung
15	chr7:80790600-80791400	Enhancers	Osteobl	bone
16	chr7:80790600-80791600	Enhancers	HMEC	breast
17	chr7:80790600-80792600	Enhancers	K562	blood
18	chr7:80790600-80792800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80790600-80793000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:80790800-80791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:80790800-80791400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:80790800-80791400	Enhancers	Fetal Lung	lung
23	chr7:80790800-80791400	Enhancers	Left Ventricle	heart
24	chr7:80790800-80792000	Enhancers	Fetal Heart	heart
25	chr7:80790800-80792000	Enhancers	NHDF-Ad	bronchial
26	chr7:80791000-80791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:80791000-80791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:80791000-80791600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:80791000-80792600	Weak transcription	HepG2	liver

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