Variant report

Variant	rs17022481
Chromosome Location	chr4:95816415-95816416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95810479..95814160-chr4:95814675..95817418,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10488911	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996449	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs17022414	1.00[AMR][1000 genomes]
rs17022426	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022464	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022515	1.00[AMR][1000 genomes]
rs17022683	1.00[AMR][1000 genomes]
rs17022725	1.00[AMR][1000 genomes]
rs56248936	1.00[AMR][1000 genomes]
rs56712127	1.00[AMR][1000 genomes]
rs57249444	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57879004	1.00[AMR][1000 genomes]
rs60363817	1.00[AMR][1000 genomes]
rs60592097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60793962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61505577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887871	0.81[AFR][1000 genomes]
rs72887884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887885	0.83[AFR][1000 genomes]
rs72887886	0.82[AFR][1000 genomes]
rs72887893	0.89[AFR][1000 genomes]
rs72887899	1.00[AMR][1000 genomes]
rs72889508	1.00[AMR][1000 genomes]
rs72889509	1.00[AMR][1000 genomes]
rs72889552	1.00[AMR][1000 genomes]
rs72889572	1.00[AMR][1000 genomes]
rs73836156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836199	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95811000-95833600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:95811200-95817800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:95811200-95824800	Weak transcription	Aorta	Aorta
4	chr4:95811600-95818200	Weak transcription	NH-A	brain
5	chr4:95812000-95821400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:95812400-95830400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:95813200-95818000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:95815200-95816600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:95815600-95818200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:95815800-95817000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:95815800-95817800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:95815800-95818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:95815800-95820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:95816000-95816800	Enhancers	A549	lung
15	chr4:95816200-95818000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:95816400-95817200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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