Variant report

Variant	rs2450290
Chromosome Location	chr8:50828008-50828009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs10086004	0.81[ASN][1000 genomes]
rs10089399	0.81[ASN][1000 genomes]
rs10090657	0.81[ASN][1000 genomes]
rs10092384	0.81[ASN][1000 genomes]
rs10096242	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10107423	0.81[ASN][1000 genomes]
rs10111730	0.81[ASN][1000 genomes]
rs10112818	0.83[CHD][hapmap]
rs1038534	0.81[ASN][1000 genomes]
rs10504093	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1074385	0.81[ASN][1000 genomes]
rs10957620	0.81[ASN][1000 genomes]
rs10957679	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957681	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10957682	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1157932	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11773979	0.83[ASN][1000 genomes]
rs11776388	0.83[EUR][1000 genomes]
rs11777957	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs11778027	0.83[EUR][1000 genomes]
rs11781675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11782772	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11783503	1.00[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.83[EUR][1000 genomes]
rs11783631	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.83[EUR][1000 genomes]
rs11784278	0.83[EUR][1000 genomes]
rs11784738	0.83[EUR][1000 genomes]
rs11785147	0.81[ASN][1000 genomes]
rs11786880	0.87[EUR][1000 genomes]
rs11786939	0.81[ASN][1000 genomes]
rs11787050	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541363	0.84[CHB][hapmap]
rs12542536	0.84[AMR][1000 genomes]
rs12545695	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12547245	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12677051	0.81[ASN][1000 genomes]
rs13251355	0.81[ASN][1000 genomes]
rs13255117	0.81[ASN][1000 genomes]
rs13261298	0.81[ASN][1000 genomes]
rs13264385	0.85[ASN][1000 genomes]
rs13267366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1344326	1.00[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes]
rs1352112	0.81[ASN][1000 genomes]
rs1385974	0.81[ASN][1000 genomes]
rs1385975	0.81[ASN][1000 genomes]
rs1385980	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1385982	0.81[ASN][1000 genomes]
rs1486241	0.81[ASN][1000 genomes]
rs1486242	0.81[ASN][1000 genomes]
rs1486243	0.81[ASN][1000 genomes]
rs1486251	0.81[ASN][1000 genomes]
rs1486252	0.81[ASN][1000 genomes]
rs1486253	0.81[ASN][1000 genomes]
rs1486254	0.81[ASN][1000 genomes]
rs1486258	0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs1486263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1552372	0.81[ASN][1000 genomes]
rs1552373	0.81[ASN][1000 genomes]
rs1552377	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552379	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1580468	0.81[ASN][1000 genomes]
rs1586364	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1601569	0.81[ASN][1000 genomes]
rs16912794	0.81[ASN][1000 genomes]
rs16913087	0.81[ASN][1000 genomes]
rs16913461	0.81[ASN][1000 genomes]
rs16913472	0.81[ASN][1000 genomes]
rs16913475	0.81[ASN][1000 genomes]
rs16913687	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16914039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979535	0.81[ASN][1000 genomes]
rs1994344	0.81[ASN][1000 genomes]
rs2015043	0.81[CHD][hapmap]
rs2129162	0.81[ASN][1000 genomes]
rs2129164	0.81[ASN][1000 genomes]
rs2170953	0.96[CHD][hapmap];0.83[ASN][1000 genomes]
rs2247368	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385545	0.81[ASN][1000 genomes]
rs2385546	0.81[ASN][1000 genomes]
rs2385547	0.81[ASN][1000 genomes]
rs2385554	0.89[CHD][hapmap];0.87[ASN][1000 genomes]
rs2385696	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2385697	0.83[ASN][1000 genomes]
rs2449960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2449961	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2449962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450286	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2628420	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs28869911	0.98[ASN][1000 genomes]
rs318850	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs318851	0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs318853	0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs318854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs318858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318861	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs318874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs379601	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3812426	0.84[ASN][1000 genomes]
rs404309	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs404686	0.90[AMR][1000 genomes]
rs412929	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4242456	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs4383988	0.81[ASN][1000 genomes]
rs4467946	0.89[MEX][hapmap]
rs451034	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs453906	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4584153	0.81[ASN][1000 genomes]
rs4873113	0.81[ASN][1000 genomes]
rs4873114	0.81[ASN][1000 genomes]
rs4873116	0.81[ASN][1000 genomes]
rs4873118	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873119	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873120	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873121	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4873123	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4873383	0.81[ASN][1000 genomes]
rs4873388	0.81[ASN][1000 genomes]
rs4873391	0.81[ASN][1000 genomes]
rs4873392	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873401	0.83[EUR][1000 genomes]
rs4873402	1.00[MEX][hapmap]
rs55780592	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55879210	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56659775	0.81[ASN][1000 genomes]
rs57462717	0.81[ASN][1000 genomes]
rs58764084	0.81[ASN][1000 genomes]
rs59240550	0.83[EUR][1000 genomes]
rs59379959	0.81[ASN][1000 genomes]
rs59679832	0.83[EUR][1000 genomes]
rs59848488	0.81[ASN][1000 genomes]
rs60213702	0.81[ASN][1000 genomes]
rs60631955	0.81[ASN][1000 genomes]
rs61662535	0.81[ASN][1000 genomes]
rs6472721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6472838	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6472839	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984738	0.80[ASN][1000 genomes]
rs6988440	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6994224	0.81[ASN][1000 genomes]
rs7002291	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7002909	0.80[ASN][1000 genomes]
rs7003221	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7003721	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7004973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008449	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7010915	0.81[CHD][hapmap]
rs7013903	0.81[ASN][1000 genomes]
rs7014520	0.81[CHD][hapmap]
rs73582706	0.81[ASN][1000 genomes]
rs73582713	0.81[ASN][1000 genomes]
rs73582724	0.81[ASN][1000 genomes]
rs73582755	0.81[ASN][1000 genomes]
rs73582756	0.81[ASN][1000 genomes]
rs73676077	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7388392	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7825552	0.81[ASN][1000 genomes]
rs7828311	0.81[ASN][1000 genomes]
rs7828900	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833377	1.00[CEU][hapmap]
rs923060	0.86[ASN][1000 genomes]
rs9298228	0.81[ASN][1000 genomes]
rs9298229	0.81[ASN][1000 genomes]
rs964011	0.81[ASN][1000 genomes]
rs9643685	0.83[ASN][1000 genomes]
rs967107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs971926	0.81[CHD][hapmap]
rs974740	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs974742	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9886451	0.81[ASN][1000 genomes]
rs993553	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2450290	ETV3L	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50821600-50829000	Active TSS	Brain Germinal Matrix	brain
2	chr8:50821800-50828600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50822000-50828400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:50823400-50828400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:50824000-50828600	Active TSS	Brain Anterior Caudate	brain
6	chr8:50824600-50831600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:50824800-50830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:50825000-50831800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:50826200-50828600	Active TSS	Fetal Brain Female	brain
10	chr8:50826600-50830000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:50826800-50829800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:50826800-50830000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:50826800-50830000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:50827000-50828400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:50827200-50829800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:50827200-50829800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:50827600-50828200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:50827600-50829600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:50828000-50828200	Active TSS	Pancreatic Islets	Pancreatic Islet

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