Variant report

Variant	rs7788180
Chromosome Location	chr7:50876001-50876002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50869664..50871452-chr7:50874816..50876730,2	K562	blood:
2	chr7:50871845..50874817-chr7:50875745..50879437,4	K562	blood:
3	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
4	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:
5	chr7:50875562..50877095-chr7:50877461..50880211,2	K562	blood:
6	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1019002	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10216232	0.81[EUR][1000 genomes]
rs1024532	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1548609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108350	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301926	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301927	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329492	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800999	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947444	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947446	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947835	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947836	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947837	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947842	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947866	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947886	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947890	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947891	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593140	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593142	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593171	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945302	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6973119	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978627	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757775	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7783329	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962508	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs990358	0.89[EUR][1000 genomes];0.86[ASN][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3391783	chr7:50875942-50876203	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
3	chr7:50870200-50878000	Weak transcription	Spleen	Spleen
4	chr7:50871400-50879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:50871600-50879800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:50873800-50879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:50874000-50879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:50874000-50879800	Weak transcription	A549	lung
9	chr7:50874400-50879800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:50875200-50880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:50875600-50880400	Weak transcription	Osteobl	bone
12	chr7:50875800-50876800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:50876000-50876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:50876000-50876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:50876000-50876400	Enhancers	Esophagus	oesophagus
16	chr7:50876000-50876600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:50876000-50876800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50876000-50877000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:50876000-50877000	Enhancers	HMEC	breast
20	chr7:50876000-50879400	Weak transcription	Hela-S3	cervix

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