Variant report

Variant	rs4469475
Chromosome Location	chr8:5029496-5029497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10086600	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089761	0.87[ASN][1000 genomes]
rs10102314	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10866979	0.93[ASN][1000 genomes]
rs11136828	0.85[ASN][1000 genomes]
rs11136830	0.93[ASN][1000 genomes]
rs11776465	0.87[ASN][1000 genomes]
rs11776699	0.80[ASN][1000 genomes]
rs11785887	0.87[ASN][1000 genomes]
rs11985826	0.83[ASN][1000 genomes]
rs11995533	0.81[ASN][1000 genomes]
rs12544495	0.88[ASN][1000 genomes]
rs12545178	0.85[ASN][1000 genomes]
rs12545609	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549897	0.85[ASN][1000 genomes]
rs13248751	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13253601	0.96[ASN][1000 genomes]
rs13254213	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257156	0.93[ASN][1000 genomes]
rs13274407	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13276671	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13279768	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281229	0.96[ASN][1000 genomes]
rs28690269	0.88[ASN][1000 genomes]
rs28845835	0.97[ASN][1000 genomes]
rs34655563	0.82[ASN][1000 genomes]
rs35047891	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4130202	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4394420	0.89[ASN][1000 genomes]
rs4398942	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415343	0.93[ASN][1000 genomes]
rs4445246	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4598270	0.85[ASN][1000 genomes]
rs4610773	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4615597	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4629891	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56265039	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60747364	0.93[ASN][1000 genomes]
rs6558974	0.90[ASN][1000 genomes]
rs6558976	0.82[ASN][1000 genomes]
rs6981364	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982689	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983804	0.87[ASN][1000 genomes]
rs6984042	0.87[ASN][1000 genomes]
rs6984641	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6988886	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989785	0.87[ASN][1000 genomes]
rs6989820	0.87[ASN][1000 genomes]
rs6994210	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995257	0.83[ASN][1000 genomes]
rs6995685	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998734	0.97[ASN][1000 genomes]
rs6998740	0.83[ASN][1000 genomes]
rs7000861	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001380	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7003519	0.87[ASN][1000 genomes]
rs7004611	0.88[ASN][1000 genomes]
rs7004624	0.88[ASN][1000 genomes]
rs7005357	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006470	0.88[ASN][1000 genomes]
rs7011574	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7011604	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012448	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012456	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7013098	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014819	0.88[ASN][1000 genomes]
rs7014966	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7460158	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813316	0.85[ASN][1000 genomes]
rs7822175	0.83[ASN][1000 genomes]
rs7822294	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7833925	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838077	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839924	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1028846	chr8:4907673-5128665	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1025394	chr8:4939429-5041417	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1028032	chr8:4967369-5032325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1030930	chr8:4974111-5044712	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2761400	chr8:4990205-5044712	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv831217	chr8:5007449-5210093	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5026200-5030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:5026400-5030000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:5026400-5030000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:5026400-5030200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:5026600-5030400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:5026600-5030400	Enhancers	Brain Germinal Matrix	brain
7	chr8:5026800-5030200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:5027000-5030000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:5027600-5030600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:5028400-5029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:5028800-5030400	Enhancers	Fetal Brain Male	brain
12	chr8:5028800-5030800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:5029000-5029600	Enhancers	Fetal Brain Female	brain
14	chr8:5029200-5029800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:5029200-5029800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:5029400-5029600	Active TSS	Brain Hippocampus Middle	brain
17	chr8:5029400-5029800	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:5029400-5030000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:5029400-5030200	Active TSS	Brain Anterior Caudate	brain
20	chr8:5029400-5030200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:5029400-5030400	Active TSS	Stomach Smooth Muscle	stomach
22	chr8:5029400-5036600	Weak transcription	H9 Cell Line	embryonic stem cell

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