Variant report

Variant	rs1895776
Chromosome Location	chr5:113833017-113833018
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:113831498..113833430-chr5:113835261..113837627,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11241279	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11241280	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11241281	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11738819	0.83[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11741945	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11745974	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12153735	0.91[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12187240	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12516617	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12516818	0.84[JPT][hapmap]
rs13168840	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13188074	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13188819	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1364934	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1380477	0.92[CEU][hapmap];0.88[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1380478	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1459780	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1459781	1.00[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17136633	0.84[JPT][hapmap]
rs1993657	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs34333534	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34565875	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36083903	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4435855	0.81[CHB][hapmap]
rs6884289	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72801872	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830452	chr5:113798617-113975228	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599433	chr5:113827287-113901090	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1895776	KCNN2	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113813800-113843400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:113814000-113833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:113822400-113833600	Weak transcription	Right Ventricle	heart
4	chr5:113823000-113833400	Strong transcription	Liver	Liver
5	chr5:113825600-113834600	Weak transcription	Fetal Brain Female	brain
6	chr5:113826200-113833600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:113827400-113833400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:113827400-113834600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:113827600-113836600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:113828200-113835800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:113828600-113833200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:113828600-113833400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:113829600-113834000	Weak transcription	Fetal Heart	heart
14	chr5:113830000-113833200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:113830400-113833400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:113832000-113834600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:113832000-113835600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:113832000-113836200	Weak transcription	Left Ventricle	heart
19	chr5:113833000-113834600	Weak transcription	H1 Cell Line	embryonic stem cell

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