Variant report

Variant	rs16914250
Chromosome Location	chr8:50982985-50982986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1000638	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs1000639	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10093604	0.86[JPT][hapmap]
rs10096871	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10109835	1.00[JPT][hapmap]
rs10504094	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10504096	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10504098	0.92[JPT][hapmap]
rs10504099	0.81[JPT][hapmap]
rs10808817	0.81[JPT][hapmap]
rs10957813	0.86[JPT][hapmap]
rs10957814	0.86[JPT][hapmap]
rs10957828	0.86[JPT][hapmap]
rs10957853	0.85[JPT][hapmap]
rs11778998	0.86[JPT][hapmap]
rs11986031	0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11986160	0.86[JPT][hapmap]
rs11987017	0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11991940	0.86[JPT][hapmap]
rs11994226	0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12056425	0.81[JPT][hapmap]
rs12056426	0.86[JPT][hapmap]
rs12542067	0.86[JPT][hapmap]
rs12544631	0.81[JPT][hapmap]
rs12544986	1.00[JPT][hapmap]
rs12545263	0.84[ASN][1000 genomes]
rs12680748	0.81[JPT][hapmap]
rs13252320	0.85[JPT][hapmap]
rs13260265	0.86[JPT][hapmap]
rs13271983	0.85[ASN][1000 genomes]
rs13282956	0.86[JPT][hapmap]
rs13340639	0.83[JPT][hapmap]
rs1349317	0.81[JPT][hapmap]
rs1375948	0.81[JPT][hapmap]
rs1450127	0.86[JPT][hapmap]
rs1484809	0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1484810	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs1484811	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1597428	0.81[JPT][hapmap]
rs16914220	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs16914234	0.85[CHB][hapmap]
rs16914299	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs16914318	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16914321	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16914346	0.86[JPT][hapmap]
rs16914423	0.82[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs16914526	1.00[CHB][hapmap]
rs17758599	0.86[JPT][hapmap]
rs1901055	0.81[JPT][hapmap]
rs1903311	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1906070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1993680	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs203612	0.86[JPT][hapmap]
rs203616	0.86[JPT][hapmap]
rs203624	0.86[JPT][hapmap]
rs203626	0.86[JPT][hapmap]
rs203632	0.86[JPT][hapmap]
rs203908	0.86[JPT][hapmap]
rs203925	0.86[JPT][hapmap]
rs203928	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs203932	0.86[JPT][hapmap]
rs203935	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs203936	0.84[JPT][hapmap]
rs203937	0.82[ASN][1000 genomes]
rs203938	0.82[ASN][1000 genomes]
rs203939	0.86[JPT][hapmap]
rs203940	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs203947	0.86[JPT][hapmap]
rs203949	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs203960	0.86[JPT][hapmap]
rs2084590	0.86[JPT][hapmap]
rs2385812	0.86[JPT][hapmap]
rs34047312	0.84[ASN][1000 genomes]
rs34641787	0.84[ASN][1000 genomes]
rs35989044	0.88[ASN][1000 genomes]
rs420489	0.86[JPT][hapmap]
rs4398931	0.81[JPT][hapmap]
rs4543555	0.81[JPT][hapmap]
rs4633068	0.81[JPT][hapmap]
rs4873128	0.86[JPT][hapmap]
rs4873129	0.86[JPT][hapmap]
rs4873133	0.86[JPT][hapmap]
rs4873134	0.86[JPT][hapmap]
rs4873135	0.86[JPT][hapmap]
rs4873137	0.86[JPT][hapmap]
rs4873403	0.85[CHB][hapmap]
rs4873405	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4873406	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4873407	0.84[ASN][1000 genomes]
rs4873408	0.86[JPT][hapmap]
rs4873409	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs4873411	0.86[JPT][hapmap]
rs4873413	0.86[JPT][hapmap]
rs4873415	0.86[JPT][hapmap]
rs4873417	0.86[JPT][hapmap]
rs4873418	0.86[JPT][hapmap]
rs4873419	0.86[JPT][hapmap]
rs4873420	0.86[JPT][hapmap]
rs4873428	0.86[JPT][hapmap]
rs4873431	0.86[JPT][hapmap]
rs4873433	0.86[JPT][hapmap]
rs4873442	0.81[JPT][hapmap]
rs55889053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56725	0.81[JPT][hapmap]
rs58489421	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59046807	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6981805	0.81[JPT][hapmap]
rs6983498	0.86[JPT][hapmap]
rs6986896	0.86[JPT][hapmap]
rs6988843	0.86[JPT][hapmap]
rs6991753	0.86[JPT][hapmap]
rs6996646	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6999722	0.81[JPT][hapmap]
rs6999870	0.86[JPT][hapmap]
rs7001686	0.86[JPT][hapmap]
rs7002235	0.86[JPT][hapmap]
rs7004088	0.86[JPT][hapmap]
rs7013247	0.80[JPT][hapmap]
rs7013995	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs7016161	0.86[JPT][hapmap]
rs7017642	0.81[JPT][hapmap]
rs7018082	0.86[JPT][hapmap]
rs721441	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs73676252	0.87[AMR][1000 genomes]
rs7816568	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7820951	0.85[ASN][1000 genomes]
rs7821189	0.81[JPT][hapmap]
rs7825063	0.86[JPT][hapmap]
rs7839007	0.85[ASN][1000 genomes]
rs870754	0.86[JPT][hapmap]
rs884561	0.86[JPT][hapmap]
rs898520	0.86[JPT][hapmap]
rs9298278	0.86[JPT][hapmap]
rs9298279	0.86[JPT][hapmap]
rs987356	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS 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
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50979200-50983400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:50980200-50983400	Enhancers	Brain Germinal Matrix	brain
3	chr8:50981800-50986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:50982600-50987200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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