Variant report

Variant	rs623345
Chromosome Location	chr6:128106407-128106408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10872324	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10872327	0.87[ASN][1000 genomes]
rs11753398	0.90[ASN][1000 genomes]
rs11753615	0.90[ASN][1000 genomes]
rs11961168	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11967147	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12191259	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12194548	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12214409	0.83[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13219045	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1333767	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs199148	0.87[ASN][1000 genomes]
rs269992	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs269993	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs269997	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs269998	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs270009	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs270010	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs270012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs34389482	0.93[ASN][1000 genomes]
rs394708	0.87[ASN][1000 genomes]
rs607322	0.86[ASN][1000 genomes]
rs6569516	0.90[ASN][1000 genomes]
rs669722	0.90[ASN][1000 genomes]
rs6902009	0.92[ASN][1000 genomes]
rs6934865	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6935256	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6939770	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6940280	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6940681	0.92[ASN][1000 genomes]
rs7744896	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7768836	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7772357	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7774647	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9482835	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9491858	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9491859	0.93[ASW][hapmap];0.95[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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs9767314	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886639	chr6:127954614-128109244	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv886643	chr6:127971136-128109244	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv886644	chr6:127976408-128109244	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv886647	chr6:127977160-128109244	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv886648	chr6:127983009-128109244	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv830799	chr6:128033100-128194511	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs623345	AKAP7	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128101800-128110000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:128103000-128111800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:128103600-128113800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:128103800-128108200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:128104000-128107600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:128104000-128108000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:128104400-128113400	Weak transcription	Dnd41	blood
8	chr6:128105600-128107400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:128105800-128107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:128105800-128107800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:128105800-128108000	Weak transcription	Thymus	Thymus
12	chr6:128106000-128107400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:128106000-128107400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:128106000-128107600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:128106000-128107800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:128106000-128108000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:128106000-128114000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:128106200-128107400	Weak transcription	Fetal Thymus	thymus
19	chr6:128106200-128113600	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:128106400-128107800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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