Variant report

Variant	rs4947902
Chromosome Location	chr7:50877349-50877350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1018941	1.00[AFR][1000 genomes]
rs1018979	1.00[AFR][1000 genomes]
rs1018980	1.00[AFR][1000 genomes]
rs11765215	1.00[AFR][1000 genomes]
rs12530497	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1859477	1.00[AFR][1000 genomes]
rs1989265	1.00[AFR][1000 genomes]
rs4947462	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947463	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947887	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57219566	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58092690	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60210111	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61618565	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7803628	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:17 , 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	chr7:50876000-50879400	Weak transcription	Hela-S3	cervix
13	chr7:50876400-50880400	Weak transcription	Esophagus	oesophagus
14	chr7:50876400-50880600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:50876600-50879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:50877000-50880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:50877000-50880400	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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