Variant report

Variant	rs4705042
Chromosome Location	chr5:147108229-147108230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147103170..147104982-chr5:147106913..147109194,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10477342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11167996	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12653862	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12659905	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13172946	1.00[AFR][1000 genomes]
rs1549912	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17495305	1.00[AFR][1000 genomes]
rs17496036	1.00[AFR][1000 genomes]
rs17496399	1.00[AFR][1000 genomes]
rs17496550	1.00[AFR][1000 genomes]
rs17497229	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17497858	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17497914	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17498180	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17561784	1.00[AFR][1000 genomes]
rs17562343	1.00[AFR][1000 genomes]
rs17563332	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17563872	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17624756	0.91[EUR][1000 genomes]
rs17703007	0.93[EUR][1000 genomes]
rs2053050	1.00[AFR][1000 genomes]
rs2053052	1.00[AFR][1000 genomes]
rs2116770	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28469761	0.93[EUR][1000 genomes]
rs35130412	1.00[AFR][1000 genomes]
rs35285805	1.00[AFR][1000 genomes]
rs4593256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705189	1.00[AFR][1000 genomes]
rs4705190	1.00[AFR][1000 genomes]
rs6873548	0.84[EUR][1000 genomes]
rs6895952	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71580441	1.00[AFR][1000 genomes]
rs72835149	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7735973	0.93[EUR][1000 genomes]
rs9686888	0.93[EUR][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	esv3444248	chr5:147094808-147116217	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4705042	JAKMIP2	cis	Artery Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147101600-147114400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147101800-147109800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:147102000-147109400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:147102000-147109600	Weak transcription	Brain Germinal Matrix	brain
6	chr5:147102000-147111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:147102000-147112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:147102200-147114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:147102600-147111600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:147103600-147110400	Weak transcription	Brain Angular Gyrus	brain
11	chr5:147103600-147110400	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:147103600-147111600	Weak transcription	Fetal Brain Female	brain
13	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain
14	chr5:147105600-147109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:147105600-147114200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:147105800-147110400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:147105800-147114400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:147106000-147110400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:147106400-147110400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:147106600-147108400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:147106600-147111200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:147106800-147108400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:147107200-147112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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