Variant report

Variant	rs12698814
Chromosome Location	chr7:69368003-69368004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1008379	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10085775	0.87[ASN][1000 genomes]
rs1014382	0.83[ASN][1000 genomes]
rs10237145	0.87[ASN][1000 genomes]
rs10241485	0.87[ASN][1000 genomes]
rs11765886	0.85[ASN][1000 genomes]
rs12113555	0.80[ASN][1000 genomes]
rs12698812	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698815	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698820	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698826	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12698838	0.82[ASN][1000 genomes]
rs12698841	0.82[ASN][1000 genomes]
rs12698843	0.81[ASN][1000 genomes]
rs12698846	0.81[ASN][1000 genomes]
rs12698847	0.81[ASN][1000 genomes]
rs12698850	0.81[ASN][1000 genomes]
rs12698853	0.81[ASN][1000 genomes]
rs12698856	0.80[ASN][1000 genomes]
rs12698857	0.80[ASN][1000 genomes]
rs13228464	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13231497	0.82[ASN][1000 genomes]
rs13236841	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13242485	0.82[ASN][1000 genomes]
rs1476104	0.81[ASN][1000 genomes]
rs17353815	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17365011	0.81[ASN][1000 genomes]
rs17365333	0.81[ASN][1000 genomes]
rs17458097	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058395	0.87[ASN][1000 genomes]
rs210598	0.83[ASN][1000 genomes]
rs210600	0.87[ASN][1000 genomes]
rs210603	0.87[ASN][1000 genomes]
rs2159679	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2533432	0.83[ASN][1000 genomes]
rs2533434	0.82[ASN][1000 genomes]
rs2851488	0.83[ASN][1000 genomes]
rs2851517	0.83[ASN][1000 genomes]
rs2903097	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34249708	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35322474	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4717521	0.87[ASN][1000 genomes]
rs521259	0.87[ASN][1000 genomes]
rs563740	0.83[ASN][1000 genomes]
rs588004	0.83[ASN][1000 genomes]
rs60739014	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608796	0.83[ASN][1000 genomes]
rs611052	0.83[ASN][1000 genomes]
rs611573	0.83[ASN][1000 genomes]
rs622767	0.83[ASN][1000 genomes]
rs624626	0.83[ASN][1000 genomes]
rs6460528	0.81[ASN][1000 genomes]
rs674865	0.83[ASN][1000 genomes]
rs6943610	0.81[ASN][1000 genomes]
rs6946066	0.80[ASN][1000 genomes]
rs6955815	0.87[ASN][1000 genomes]
rs6959766	0.83[ASN][1000 genomes]
rs6963101	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6974004	0.87[ASN][1000 genomes]
rs735060	0.81[ASN][1000 genomes]
rs763759	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7779308	0.82[ASN][1000 genomes]
rs7781403	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782771	0.80[ASN][1000 genomes]
rs7783592	0.80[ASN][1000 genomes]
rs7790084	0.81[ASN][1000 genomes]
rs7791954	0.80[ASN][1000 genomes]
rs7793984	0.87[ASN][1000 genomes]
rs7796592	0.80[ASN][1000 genomes]
rs7803814	0.80[ASN][1000 genomes]
rs7807263	0.80[ASN][1000 genomes]
rs7808773	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs917616	0.83[ASN][1000 genomes]
rs9638575	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9638582	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1017390	chr7:69339404-69406232	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538920	chr7:69339404-69406232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69351200-69375400	Weak transcription	Fetal Stomach	stomach
3	chr7:69355400-69370600	Weak transcription	Fetal Brain Female	brain
4	chr7:69355400-69371200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:69355400-69372000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:69355400-69376600	Weak transcription	Ovary	ovary
7	chr7:69359000-69371400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:69359000-69372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:69360600-69371400	Enhancers	Dnd41	blood
10	chr7:69361400-69371200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:69361400-69371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:69361400-69373200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:69361600-69371200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:69362000-69373000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:69365000-69371200	Weak transcription	Fetal Thymus	thymus
16	chr7:69365200-69370200	Weak transcription	GM12878-XiMat	blood
17	chr7:69366000-69369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:69366000-69371200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:69366600-69369400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:69366600-69369400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:69366800-69371200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:69367200-69369200	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:69368000-69368200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:69368000-69368400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:69368000-69368800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:69368000-69368800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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