Variant report

Variant	rs12970312
Chromosome Location	chr18:30278521-30278522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1039142	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1039143	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10502605	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10502606	0.95[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10502607	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs11081779	1.00[JPT][hapmap]
rs12454261	0.95[CEU][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12454337	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12454409	0.95[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12456916	0.95[CEU][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12456996	0.95[CEU][hapmap];0.80[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12457924	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12457977	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12953998	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12954299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12956176	1.00[ASW][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12956194	0.85[EUR][1000 genomes]
rs12956370	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12956427	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12956607	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12957691	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12959986	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12960282	0.90[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12961920	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12964622	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12967142	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12967667	0.95[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs12967862	0.89[ASW][hapmap];0.95[CEU][hapmap];0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12968405	0.95[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12968480	0.91[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs12969530	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12969622	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12969651	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs12969727	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12969787	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12969799	0.95[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12970122	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12970129	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12970723	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12970991	0.89[EUR][1000 genomes]
rs12971179	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1357535	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1357536	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1357538	0.87[EUR][1000 genomes]
rs1403760	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1403761	0.87[EUR][1000 genomes]
rs1403762	0.86[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs1523579	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1523591	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1523592	0.87[EUR][1000 genomes]
rs17665358	0.85[GIH][hapmap]
rs17665504	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17665516	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17665734	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17665806	0.80[EUR][1000 genomes]
rs1851700	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1880113	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2030622	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs2049335	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2049336	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2132819	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2140447	0.95[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2140448	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2140449	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2173180	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2421641	0.91[CEU][hapmap]
rs4486983	1.00[JPT][hapmap]
rs4597394	0.95[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55962103	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6506979	0.89[EUR][1000 genomes]
rs6506980	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6506982	0.91[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs6506983	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6506984	0.87[EUR][1000 genomes]
rs6506985	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6506986	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs689523	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs689525	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7228647	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7228954	0.91[CEU][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs7230048	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs7230052	0.87[EUR][1000 genomes]
rs7230438	0.87[EUR][1000 genomes]
rs7230625	0.87[EUR][1000 genomes]
rs7232695	0.87[EUR][1000 genomes]
rs7233023	0.84[EUR][1000 genomes]
rs7233463	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7234525	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs7234772	0.95[CEU][hapmap];0.86[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs7236408	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7237843	0.87[EUR][1000 genomes]
rs7239898	0.95[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7241764	0.90[EUR][1000 genomes]
rs8083192	0.87[EUR][1000 genomes]
rs8089651	0.87[EUR][1000 genomes]
rs8098984	0.87[EUR][1000 genomes]
rs8099131	0.95[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs8099133	0.87[EUR][1000 genomes]
rs8099299	0.87[EUR][1000 genomes]
rs9646509	1.00[ASW][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs970688	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs9945156	0.87[EUR][1000 genomes]
rs9946368	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9946664	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs9951265	0.90[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.87[EUR][1000 genomes]
rs9951538	0.95[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9952507	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs9952882	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9953014	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9953107	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9953121	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9953954	0.95[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs9953972	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs9953979	0.90[EUR][1000 genomes]
rs9954196	0.90[EUR][1000 genomes]
rs9954483	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9954691	0.81[EUR][1000 genomes]
rs9954988	0.95[CEU][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9954999	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9955000	0.95[CEU][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9955063	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9955106	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9957809	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs9957814	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs9958329	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9962132	0.95[CEU][hapmap];0.86[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs9963102	0.88[EUR][1000 genomes]
rs9963370	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9963435	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs9965787	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9965869	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9966576	0.86[EUR][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	nsv1060732	chr18:30267156-30304435	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1062187	chr18:30267156-30306081	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1056335	chr18:30267904-30305840	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1059928	chr18:30267904-30306081	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1062522	chr18:30268383-30306081	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30260400-30282200	Weak transcription	Fetal Kidney	kidney
2	chr18:30275400-30284000	Weak transcription	Primary B cells from cord blood	blood
3	chr18:30276000-30284200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:30276400-30278800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr18:30277200-30278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:30277200-30286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:30278000-30280200	Enhancers	HepG2	liver
8	chr18:30278200-30278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:30278200-30278600	Enhancers	HSMM	muscle
10	chr18:30278200-30279200	Enhancers	Stomach Mucosa	stomach
11	chr18:30278200-30279200	Enhancers	HUVEC	blood vessel
12	chr18:30278200-30279600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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