Variant report

Variant	rs12522395
Chromosome Location	chr5:90210518-90210519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90210175..90212075-chr5:90662640..90664980,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10035662	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044202	0.81[ASN][1000 genomes]
rs10045071	0.86[CHB][hapmap]
rs10052015	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10052314	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10053303	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10059629	0.84[CHB][hapmap]
rs10060641	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10078496	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078568	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs10079044	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs10474336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10514340	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12054681	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12055217	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12513628	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12515473	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12515481	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520956	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13353995	1.00[JPT][hapmap]
rs13355731	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16869175	0.92[CHB][hapmap]
rs16869247	0.81[ASN][1000 genomes]
rs17556421	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2247415	0.84[CHB][hapmap]
rs2366935	0.83[CHB][hapmap]
rs2438338	0.92[CHB][hapmap]
rs2438342	0.92[CHB][hapmap]
rs2438343	0.84[CHB][hapmap];0.83[CHD][hapmap]
rs2438344	0.84[CHB][hapmap]
rs2438345	0.83[CHD][hapmap]
rs2438351	0.84[CHB][hapmap]
rs2438353	0.84[CHB][hapmap]
rs2443068	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs28597697	0.90[ASN][1000 genomes]
rs3098356	0.92[CHB][hapmap];0.83[CHD][hapmap]
rs4916698	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4916827	0.92[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs4916828	0.81[ASN][1000 genomes]
rs4916829	0.92[CHB][hapmap];0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs55977992	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56908576	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57954532	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58201771	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6878896	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73185149	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73185150	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7724016	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12522395	C5orf36	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90205000-90225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90205200-90210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:90205200-90217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:90205200-90219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:90206200-90211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:90206200-90211200	Weak transcription	Fetal Kidney	kidney
9	chr5:90207400-90212800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:90207800-90210600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
12	chr5:90208200-90213400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:90208600-90210600	Weak transcription	Liver	Liver
14	chr5:90208600-90211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:90208600-90217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:90210000-90211200	Enhancers	HepG2	liver
17	chr5:90210200-90210800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:90210200-90211000	Weak transcription	A549	lung

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