Variant report

Variant	rs325218
Chromosome Location	chr5:98298371-98298372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98263389..98266145-chr5:98295951..98300561,6	K562	blood:
2	chr5:98263064..98266794-chr5:98295400..98300838,7	K562	blood:
3	chr5:98297682..98299622-chr5:98302405..98305273,3	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11242525	1.00[AMR][1000 genomes]
rs161741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57031864	1.00[AMR][1000 genomes]
rs60480489	1.00[AMR][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98278600-98299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:98279400-98298400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:98297200-98299400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:98297200-98299800	Enhancers	Thymus	Thymus
5	chr5:98297400-98300800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:98297800-98298400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:98297800-98299600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr5:98297800-98299800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:98298000-98299000	Genic enhancers	K562	blood
10	chr5:98298200-98298400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr5:98298200-98298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:98298200-98298600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:98298200-98298600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:98298200-98299200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:98298200-98299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:98298200-98299600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:98298200-98299600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:98298200-98299800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:98298200-98299800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:98298200-98300200	Enhancers	Fetal Thymus	thymus

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