Variant report

Variant	rs17458097
Chromosome Location	chr7:69292900-69292901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1008379	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10085775	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1014382	0.88[ASN][1000 genomes]
rs1014417	0.80[EUR][1000 genomes]
rs10237145	0.92[ASN][1000 genomes]
rs10241485	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11765886	0.90[ASN][1000 genomes]
rs12698812	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698814	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698815	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698820	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698826	0.89[AMR][1000 genomes]
rs12698838	0.85[ASN][1000 genomes]
rs12698841	0.85[ASN][1000 genomes]
rs12698843	0.84[ASN][1000 genomes]
rs12698846	0.84[ASN][1000 genomes]
rs12698847	0.84[ASN][1000 genomes]
rs13228464	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13231497	0.85[ASN][1000 genomes]
rs13232095	0.83[ASN][1000 genomes]
rs13236841	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13242485	0.85[ASN][1000 genomes]
rs17140933	0.80[EUR][1000 genomes]
rs17353815	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17365011	0.84[ASN][1000 genomes]
rs17365333	0.84[ASN][1000 genomes]
rs2058395	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs210598	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs210600	0.92[ASN][1000 genomes]
rs210603	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2159679	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2533432	0.88[ASN][1000 genomes]
rs2533434	0.87[ASN][1000 genomes]
rs2851488	0.88[ASN][1000 genomes]
rs2851517	0.88[ASN][1000 genomes]
rs2903097	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34221396	0.80[EUR][1000 genomes]
rs34249708	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35322474	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717521	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs521259	0.92[ASN][1000 genomes]
rs55990156	0.80[EUR][1000 genomes]
rs563740	0.88[ASN][1000 genomes]
rs588004	0.88[ASN][1000 genomes]
rs60739014	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs608796	0.88[ASN][1000 genomes]
rs611052	0.88[ASN][1000 genomes]
rs611573	0.88[ASN][1000 genomes]
rs622767	0.88[ASN][1000 genomes]
rs624626	0.88[ASN][1000 genomes]
rs6460528	0.86[ASN][1000 genomes]
rs674865	0.88[ASN][1000 genomes]
rs6955815	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6959766	0.88[ASN][1000 genomes]
rs6963101	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6974004	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs735060	0.84[ASN][1000 genomes]
rs763759	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779308	0.85[ASN][1000 genomes]
rs7781403	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783039	0.82[ASN][1000 genomes]
rs7793984	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7796592	0.83[ASN][1000 genomes]
rs7801117	0.82[CEU][hapmap]
rs7808773	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809145	0.80[EUR][1000 genomes]
rs917616	0.88[ASN][1000 genomes]
rs9332399	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs9638575	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9638582	0.84[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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69284600-69297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:69285000-69295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:69288200-69304800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:69288600-69304800	Weak transcription	Ovary	ovary
5	chr7:69289000-69293400	Enhancers	Fetal Thymus	thymus
6	chr7:69289200-69293400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:69289600-69293200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:69289600-69293400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69289800-69293200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69289800-69293600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:69290000-69293000	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:69290000-69293400	Enhancers	Thymus	Thymus
13	chr7:69290400-69293600	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:69290400-69302400	Weak transcription	Fetal Stomach	stomach
15	chr7:69290600-69293600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:69290800-69293600	Enhancers	Primary B cells from cord blood	blood
17	chr7:69290800-69293600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:69290800-69294000	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:69290800-69295800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:69290800-69295800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:69291000-69295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:69291000-69299400	Weak transcription	Fetal Intestine Small	intestine
23	chr7:69291200-69293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:69291200-69293600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:69291200-69297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:69291200-69299000	Weak transcription	Fetal Brain Female	brain
27	chr7:69291400-69293200	Enhancers	Fetal Lung	lung
28	chr7:69291600-69295600	Weak transcription	Brain Germinal Matrix	brain
29	chr7:69292000-69293200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:69292200-69293000	Weak transcription	Left Ventricle	heart
31	chr7:69292200-69293200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:69292200-69293400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:69292200-69293400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:69292400-69293400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:69292400-69299200	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:69292600-69293200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:69292600-69293200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:69292600-69293200	Enhancers	Primary T cells from cord blood	blood
39	chr7:69292600-69293400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:69292600-69293400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:69292800-69293000	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:69292800-69293000	Enhancers	Right Atrium	heart
43	chr7:69292800-69293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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