Variant report

Variant	rs12698820
Chromosome Location	chr7:69415279-69415280
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	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1008379	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10085775	0.85[ASN][1000 genomes]
rs10237145	0.85[ASN][1000 genomes]
rs10241485	0.85[ASN][1000 genomes]
rs10499813	0.90[ASN][1000 genomes]
rs11765886	0.83[ASN][1000 genomes]
rs12113555	0.90[ASN][1000 genomes]
rs12667561	0.83[AMR][1000 genomes]
rs12698812	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698814	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698815	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698826	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698835	0.85[AMR][1000 genomes]
rs12698838	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12698841	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12698843	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12698846	0.91[ASN][1000 genomes]
rs12698847	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12698850	0.89[ASN][1000 genomes]
rs12698853	0.91[ASN][1000 genomes]
rs12698856	0.90[ASN][1000 genomes]
rs12698857	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs12698859	0.87[ASN][1000 genomes]
rs12698862	0.88[ASN][1000 genomes]
rs12698869	0.90[ASN][1000 genomes]
rs12698875	0.88[ASN][1000 genomes]
rs13228464	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13229395	0.85[AMR][1000 genomes]
rs13231497	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13236841	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13242485	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13247796	0.92[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1476104	0.91[ASN][1000 genomes]
rs17353815	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17365011	0.89[ASN][1000 genomes]
rs17365333	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17365375	0.85[AMR][1000 genomes]
rs17458097	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17462837	0.85[AMR][1000 genomes]
rs1880369	0.90[ASN][1000 genomes]
rs2058395	0.85[ASN][1000 genomes]
rs210598	0.83[ASN][1000 genomes]
rs210600	0.85[ASN][1000 genomes]
rs210603	0.85[ASN][1000 genomes]
rs2159679	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2903097	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34249708	0.87[ASN][1000 genomes]
rs34519726	0.85[AMR][1000 genomes]
rs35317642	0.85[AMR][1000 genomes]
rs35322474	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4717521	0.85[ASN][1000 genomes]
rs521259	0.85[ASN][1000 genomes]
rs563740	0.81[ASN][1000 genomes]
rs588004	0.81[ASN][1000 genomes]
rs60739014	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs608796	0.83[ASN][1000 genomes]
rs611052	0.81[ASN][1000 genomes]
rs611573	0.81[ASN][1000 genomes]
rs622767	0.83[ASN][1000 genomes]
rs624626	0.81[ASN][1000 genomes]
rs674865	0.81[ASN][1000 genomes]
rs6943610	0.91[ASN][1000 genomes]
rs6943630	0.88[ASN][1000 genomes]
rs6946066	0.90[ASN][1000 genomes]
rs6948676	0.86[ASN][1000 genomes]
rs6951909	0.83[AMR][1000 genomes]
rs6955815	0.85[ASN][1000 genomes]
rs6959766	0.83[ASN][1000 genomes]
rs6963101	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6964139	0.88[ASN][1000 genomes]
rs6970670	0.83[AMR][1000 genomes]
rs6974004	0.85[ASN][1000 genomes]
rs735060	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs763759	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7779308	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7780640	0.82[AMR][1000 genomes]
rs7781403	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7782771	0.90[ASN][1000 genomes]
rs7783039	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7783592	0.90[ASN][1000 genomes]
rs7790084	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7791954	0.90[ASN][1000 genomes]
rs7793984	0.85[ASN][1000 genomes]
rs7796592	0.88[ASN][1000 genomes]
rs7800317	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7800759	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7801117	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7803814	0.90[ASN][1000 genomes]
rs7807263	0.90[ASN][1000 genomes]
rs7808773	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs870919	0.86[ASN][1000 genomes]
rs917717	0.85[AMR][1000 genomes]
rs9332399	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs9638575	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9638582	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12698820	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:69406600-69415600	Weak transcription	GM12878-XiMat	blood
4	chr7:69406800-69417200	Weak transcription	Thymus	Thymus
5	chr7:69409400-69417200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:69410000-69415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:69411000-69426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:69412200-69418000	Weak transcription	Fetal Stomach	stomach
9	chr7:69413000-69418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69413400-69416400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:69413400-69417200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:69413400-69417800	Weak transcription	Fetal Lung	lung
13	chr7:69414800-69423400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:69415000-69427200	Weak transcription	Fetal Kidney	kidney
15	chr7:69415200-69418000	Weak transcription	Fetal Heart	heart

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