Variant report

Variant	rs11992489
Chromosome Location	chr8:35615132-35615133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10503983	1.00[EUR][1000 genomes]
rs11984500	1.00[EUR][1000 genomes]
rs11985711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986538	1.00[EUR][1000 genomes]
rs11987769	1.00[EUR][1000 genomes]
rs11988094	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11989128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989578	1.00[EUR][1000 genomes]
rs11992482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993299	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994299	1.00[EUR][1000 genomes]
rs11994324	1.00[EUR][1000 genomes]
rs11994757	1.00[EUR][1000 genomes]
rs11995446	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11995471	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11996057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1436611	1.00[EUR][1000 genomes]
rs1436614	1.00[EUR][1000 genomes]
rs1436615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884268	1.00[EUR][1000 genomes]
rs16884297	1.00[EUR][1000 genomes]
rs16884299	1.00[EUR][1000 genomes]
rs16884300	1.00[EUR][1000 genomes]
rs16884301	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16884304	1.00[EUR][1000 genomes]
rs16884305	1.00[EUR][1000 genomes]
rs16884340	1.00[EUR][1000 genomes]
rs16884343	1.00[EUR][1000 genomes]
rs16884349	1.00[EUR][1000 genomes]
rs16884352	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884360	1.00[EUR][1000 genomes]
rs16884367	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884401	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884403	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884404	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884405	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884409	1.00[EUR][1000 genomes]
rs16884412	0.83[EUR][1000 genomes]
rs16884418	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884431	1.00[EUR][1000 genomes]
rs16884441	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16884444	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884452	1.00[EUR][1000 genomes]
rs16884454	1.00[EUR][1000 genomes]
rs16884457	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884467	1.00[EUR][1000 genomes]
rs16884502	1.00[EUR][1000 genomes]
rs2043659	1.00[EUR][1000 genomes]
rs28459520	1.00[EUR][1000 genomes]
rs4295659	1.00[EUR][1000 genomes]
rs4538874	1.00[EUR][1000 genomes]
rs55666865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55771007	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55813330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56085711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56106393	1.00[EUR][1000 genomes]
rs56173644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56280904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57687144	1.00[EUR][1000 genomes]
rs57917672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58260432	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58262186	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58342093	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58496929	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58719180	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58832562	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59159114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59164943	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60082699	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60158422	1.00[EUR][1000 genomes]
rs60382030	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60592123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60662432	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60775964	1.00[EUR][1000 genomes]
rs61032008	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61210391	1.00[EUR][1000 genomes]
rs61341819	1.00[EUR][1000 genomes]
rs61411334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61412637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468326	1.00[EUR][1000 genomes]
rs6468327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468330	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468333	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468335	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468336	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468337	1.00[EUR][1000 genomes]
rs6468339	1.00[EUR][1000 genomes]
rs6468340	1.00[EUR][1000 genomes]
rs6986225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987079	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6989133	1.00[EUR][1000 genomes]
rs6989852	1.00[EUR][1000 genomes]
rs6997156	1.00[EUR][1000 genomes]
rs6998018	1.00[EUR][1000 genomes]
rs6998842	1.00[EUR][1000 genomes]
rs6999180	1.00[EUR][1000 genomes]
rs7000366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005043	1.00[EUR][1000 genomes]
rs7005046	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007054	1.00[EUR][1000 genomes]
rs7007647	1.00[EUR][1000 genomes]
rs7009537	1.00[EUR][1000 genomes]
rs7011539	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011742	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013001	1.00[EUR][1000 genomes]
rs7013512	1.00[EUR][1000 genomes]
rs7014109	1.00[EUR][1000 genomes]
rs7016435	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7017863	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578254	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578258	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578281	1.00[EUR][1000 genomes]
rs73578300	1.00[EUR][1000 genomes]
rs73580204	1.00[EUR][1000 genomes]
rs73580209	1.00[EUR][1000 genomes]
rs73580211	1.00[EUR][1000 genomes]
rs73580235	1.00[EUR][1000 genomes]
rs73582209	1.00[EUR][1000 genomes]
rs73582284	1.00[EUR][1000 genomes]
rs73583051	1.00[EUR][1000 genomes]
rs73586703	1.00[EUR][1000 genomes]
rs73586731	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815881	1.00[EUR][1000 genomes]
rs7818053	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818374	1.00[EUR][1000 genomes]
rs7818709	1.00[EUR][1000 genomes]
rs7821825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824105	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830643	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833421	1.00[EUR][1000 genomes]
rs7836141	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838726	1.00[EUR][1000 genomes]
rs7839379	1.00[EUR][1000 genomes]
rs7840766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842132	1.00[EUR][1000 genomes]
rs7843323	1.00[EUR][1000 genomes]
rs7844702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846639	1.00[EUR][1000 genomes]
rs934649	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2754662	chr8:35558658-35648958	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032540	chr8:35565491-35949132	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35576000-35631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:35582000-35640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:35603200-35624800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:35607400-35624400	Weak transcription	Fetal Brain Female	brain
5	chr8:35609800-35616600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:35609800-35622400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:35610600-35631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:35611400-35619200	Weak transcription	Fetal Kidney	kidney
9	chr8:35612200-35616600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:35612200-35624400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:35612200-35633200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:35613200-35617200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:35613200-35619200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:35613200-35619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:35613600-35616600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:35614400-35616400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:35614400-35616800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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