Variant report

Variant	rs17418531
Chromosome Location	chr4:87403137-87403138
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11947775	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17011924	0.92[ASN][1000 genomes]
rs17418221	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17418801	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17418878	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17452467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235081	0.91[ASN][1000 genomes]
rs4277747	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4404513	0.94[ASN][1000 genomes]
rs4405982	0.90[ASN][1000 genomes]
rs4407468	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452393	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4466012	0.94[ASN][1000 genomes]
rs4511966	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4529013	0.91[ASN][1000 genomes]
rs4552430	0.91[ASN][1000 genomes]
rs4607180	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4622964	0.90[ASN][1000 genomes]
rs4640633	0.94[ASN][1000 genomes]
rs4693147	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693772	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4693776	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693777	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55653332	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55654230	0.81[ASN][1000 genomes]
rs55660529	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55722156	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55746316	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55757426	0.83[ASN][1000 genomes]
rs55773619	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55814693	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55842318	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55872468	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55879246	0.83[ASN][1000 genomes]
rs55881335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55908925	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55930543	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55969415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982489	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56009992	0.94[ASN][1000 genomes]
rs56164000	0.91[ASN][1000 genomes]
rs56178389	0.80[ASN][1000 genomes]
rs56222033	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56296936	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56348925	0.84[ASN][1000 genomes]
rs56353461	0.91[ASN][1000 genomes]
rs59644743	0.90[ASN][1000 genomes]
rs61152200	0.90[ASN][1000 genomes]
rs67341369	0.83[ASN][1000 genomes]
rs67523832	0.81[ASN][1000 genomes]
rs6822396	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6838659	0.95[ASN][1000 genomes]
rs6847139	0.91[ASN][1000 genomes]
rs72664002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665711	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665712	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665714	0.95[ASN][1000 genomes]
rs72665719	0.94[ASN][1000 genomes]
rs72665722	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665724	0.92[ASN][1000 genomes]
rs72665725	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665729	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665734	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665736	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665737	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665738	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665740	0.91[ASN][1000 genomes]
rs72665744	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665746	0.91[ASN][1000 genomes]
rs72665752	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665753	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665756	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665759	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72665762	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72665769	0.81[ASN][1000 genomes]
rs72665771	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7435744	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7673698	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7675845	0.91[ASN][1000 genomes]
rs7679269	0.85[ASN][1000 genomes]
rs7695011	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7697819	0.87[ASN][1000 genomes]
rs9683663	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87394200-87405600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:87400200-87403400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:87400200-87404200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:87400800-87403600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:87400800-87403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87400800-87406800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:87401000-87403600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:87401400-87403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:87401400-87405800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:87401600-87403400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:87401600-87404200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:87401800-87403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87402000-87403400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:87402200-87403800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:87402200-87404000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:87402200-87404200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:87402200-87405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:87402400-87403400	Weak transcription	Dnd41	blood
19	chr4:87402400-87404800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:87402600-87403600	Enhancers	Brain Anterior Caudate	brain
21	chr4:87402600-87403600	Enhancers	Brain Substantia Nigra	brain
22	chr4:87402600-87404800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:87402800-87403200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:87402800-87403400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:87402800-87403800	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:87402800-87404000	Enhancers	Fetal Lung	lung
27	chr4:87403000-87403400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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