Variant report

Variant	rs7219688
Chromosome Location	chr17:19952451-19952452
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	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11204422	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11867585	0.90[JPT][hapmap]
rs11867646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11867652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868146	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11870673	1.00[EUR][1000 genomes]
rs12451841	1.00[JPT][hapmap]
rs12942179	0.90[JPT][hapmap]
rs12947713	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1638526	0.90[JPT][hapmap]
rs16960602	0.81[ASN][1000 genomes]
rs17686798	1.00[JPT][hapmap]
rs17759959	1.00[JPT][hapmap]
rs2072337	0.90[JPT][hapmap]
rs28410781	0.88[ASN][1000 genomes]
rs28424266	0.90[JPT][hapmap]
rs28653561	0.81[ASN][1000 genomes]
rs28713561	0.88[ASN][1000 genomes]
rs28767032	0.81[ASN][1000 genomes]
rs28830504	0.91[ASN][1000 genomes]
rs28865331	0.81[ASN][1000 genomes]
rs3909257	0.91[ASN][1000 genomes]
rs4141185	0.90[JPT][hapmap]
rs4570919	0.90[JPT][hapmap]
rs4924808	1.00[JPT][hapmap]
rs4925075	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs4925082	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4925088	0.82[JPT][hapmap]
rs60496867	0.92[EUR][1000 genomes]
rs6587207	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6587208	0.88[ASN][1000 genomes]
rs6587212	0.91[ASN][1000 genomes]
rs7207459	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7207702	0.91[ASN][1000 genomes]
rs7208033	0.88[ASN][1000 genomes]
rs7209653	0.90[JPT][hapmap]
rs7210076	0.88[ASN][1000 genomes]
rs7210751	0.91[ASN][1000 genomes]
rs7214107	0.88[ASN][1000 genomes]
rs7215803	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7217387	0.88[ASN][1000 genomes]
rs7217862	0.88[ASN][1000 genomes]
rs7217868	0.88[ASN][1000 genomes]
rs7218919	0.91[ASN][1000 genomes]
rs7219153	0.91[ASN][1000 genomes]
rs7220490	0.88[ASN][1000 genomes]
rs7221669	0.91[ASN][1000 genomes]
rs7223323	0.91[ASN][1000 genomes]
rs7223984	1.00[EUR][1000 genomes]
rs7224373	0.88[ASN][1000 genomes]
rs7224419	0.81[ASN][1000 genomes]
rs7224567	0.81[ASN][1000 genomes]
rs7224875	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7225249	0.90[JPT][hapmap]
rs73981864	0.94[EUR][1000 genomes]
rs8066705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068484	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8074791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075343	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8079093	0.81[ASN][1000 genomes]
rs8080190	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8082671	0.88[ASN][1000 genomes]
rs888424	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9891008	0.88[ASN][1000 genomes]
rs9892175	0.91[ASN][1000 genomes]
rs9893185	0.88[ASN][1000 genomes]
rs9896010	0.88[ASN][1000 genomes]
rs9896387	0.88[ASN][1000 genomes]
rs9896499	0.81[ASN][1000 genomes]
rs9897607	0.91[ASN][1000 genomes]
rs9897653	0.90[JPT][hapmap]
rs9899251	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9900393	0.88[ASN][1000 genomes]
rs9900441	0.88[ASN][1000 genomes]
rs9901294	0.90[JPT][hapmap]
rs9901862	0.88[ASN][1000 genomes]
rs9902663	0.81[ASN][1000 genomes]
rs9908415	0.81[ASN][1000 genomes]
rs9909011	0.88[ASN][1000 genomes]
rs9909012	0.85[ASN][1000 genomes]
rs9909242	0.88[ASN][1000 genomes]
rs9909544	0.88[ASN][1000 genomes]
rs9911872	0.81[ASN][1000 genomes]
rs9912657	0.88[ASN][1000 genomes]
rs9914328	0.90[ASN][1000 genomes]
rs9914429	0.88[ASN][1000 genomes]
rs9915039	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9944451	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv907872	chr17:19945841-19996140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056224	chr17:19946604-19993026	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv543258	chr17:19946604-19993026	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1066594	chr17:19947874-19986671	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv543259	chr17:19947874-19986671	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7219688	AKAP10	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19923400-19956600	Weak transcription	A549	lung
2	chr17:19932000-19956800	Weak transcription	Ovary	ovary
3	chr17:19943800-19965800	Weak transcription	Aorta	Aorta
4	chr17:19945800-19956000	Weak transcription	K562	blood
5	chr17:19947000-19953000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:19948200-19966400	Weak transcription	Brain Angular Gyrus	brain
7	chr17:19949400-19953200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:19950800-19966400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:19951200-19956800	Weak transcription	Left Ventricle	heart

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