Variant report

Variant	rs1207440
Chromosome Location	chr2:206183690-206183691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10199654	0.89[ASN][1000 genomes]
rs10490295	0.87[ASN][1000 genomes]
rs10804147	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs10932102	0.90[ASN][1000 genomes]
rs10932104	0.81[ASN][1000 genomes]
rs10932105	0.81[ASN][1000 genomes]
rs10932106	0.81[ASN][1000 genomes]
rs1113314	0.89[ASN][1000 genomes]
rs11677457	0.81[ASN][1000 genomes]
rs11690439	0.88[ASN][1000 genomes]
rs11690480	0.81[ASN][1000 genomes]
rs11690561	0.81[ASN][1000 genomes]
rs11691345	0.83[ASN][1000 genomes]
rs11692923	0.90[ASN][1000 genomes]
rs11695465	0.81[ASN][1000 genomes]
rs1207411	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1207415	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1207420	0.81[ASN][1000 genomes]
rs1207421	0.89[ASN][1000 genomes]
rs1207424	0.87[ASN][1000 genomes]
rs1207426	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1207428	0.87[ASN][1000 genomes]
rs1207429	0.89[ASN][1000 genomes]
rs1207430	0.90[ASN][1000 genomes]
rs1207431	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1207432	0.90[ASN][1000 genomes]
rs1207433	0.90[ASN][1000 genomes]
rs1207434	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1207435	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1207436	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1207437	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1207438	0.93[ASN][1000 genomes]
rs1207441	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211319	0.94[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1212609	0.83[ASN][1000 genomes]
rs12464755	0.90[ASN][1000 genomes]
rs12468755	0.83[ASN][1000 genomes]
rs12468794	0.83[ASN][1000 genomes]
rs12470434	0.83[ASN][1000 genomes]
rs12476682	0.81[ASN][1000 genomes]
rs12615597	0.90[ASN][1000 genomes]
rs12622101	0.90[ASN][1000 genomes]
rs12623757	0.81[ASN][1000 genomes]
rs12989507	0.81[ASN][1000 genomes]
rs13002238	0.83[ASN][1000 genomes]
rs13004164	0.83[ASN][1000 genomes]
rs13004568	0.89[ASN][1000 genomes]
rs13009974	0.81[ASN][1000 genomes]
rs13011880	0.81[ASN][1000 genomes]
rs13011981	0.81[ASN][1000 genomes]
rs13015412	0.85[ASN][1000 genomes]
rs13022810	0.89[ASN][1000 genomes]
rs13024952	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1511873	0.81[ASN][1000 genomes]
rs1511874	0.81[ASN][1000 genomes]
rs1540365	0.90[ASN][1000 genomes]
rs1540366	0.90[ASN][1000 genomes]
rs1540367	0.89[ASN][1000 genomes]
rs1540368	0.89[ASN][1000 genomes]
rs1540369	0.84[ASN][1000 genomes]
rs1606238	0.81[ASN][1000 genomes]
rs1606239	0.81[ASN][1000 genomes]
rs17201041	0.81[ASN][1000 genomes]
rs1861508	0.90[ASN][1000 genomes]
rs1861509	0.90[ASN][1000 genomes]
rs1861510	0.88[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs1861511	0.83[ASN][1000 genomes]
rs1861513	0.86[ASN][1000 genomes]
rs1861514	0.81[ASN][1000 genomes]
rs1912845	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs1921805	0.90[ASN][1000 genomes]
rs1990667	0.83[ASN][1000 genomes]
rs2041877	0.81[ASN][1000 genomes]
rs2080418	0.81[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2080419	0.81[ASN][1000 genomes]
rs2160453	0.81[ASN][1000 genomes]
rs2160455	0.83[ASN][1000 genomes]
rs2193077	0.84[ASN][1000 genomes]
rs2251539	0.90[ASN][1000 genomes]
rs2336416	0.90[ASN][1000 genomes]
rs2336417	0.83[ASN][1000 genomes]
rs2541148	0.81[ASN][1000 genomes]
rs2541149	0.88[ASN][1000 genomes]
rs2541150	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2541151	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541152	0.93[ASN][1000 genomes]
rs2541153	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541154	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541160	0.86[ASN][1000 genomes]
rs2668144	0.86[ASN][1000 genomes]
rs2668145	0.86[ASN][1000 genomes]
rs2668146	0.86[ASN][1000 genomes]
rs2668148	0.87[ASN][1000 genomes]
rs2704638	0.83[ASN][1000 genomes]
rs2704642	0.84[ASN][1000 genomes]
rs2704643	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704644	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2878692	0.90[ASN][1000 genomes]
rs34226321	0.89[ASN][1000 genomes]
rs35550118	0.85[ASN][1000 genomes]
rs3843339	0.83[ASN][1000 genomes]
rs3845806	0.83[ASN][1000 genomes]
rs3856509	0.90[ASN][1000 genomes]
rs3928642	0.83[ASN][1000 genomes]
rs4119079	0.90[ASN][1000 genomes]
rs4119081	0.90[ASN][1000 genomes]
rs4505506	0.81[ASN][1000 genomes]
rs4673317	0.81[ASN][1000 genomes]
rs4673318	0.90[ASN][1000 genomes]
rs4673319	0.83[ASN][1000 genomes]
rs4673320	0.81[ASN][1000 genomes]
rs4673323	0.81[ASN][1000 genomes]
rs4673324	0.81[ASN][1000 genomes]
rs4675508	0.88[ASN][1000 genomes]
rs4675511	0.90[ASN][1000 genomes]
rs4675512	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4675513	0.90[ASN][1000 genomes]
rs4675515	0.83[ASN][1000 genomes]
rs4675519	0.81[ASN][1000 genomes]
rs55850246	0.90[ASN][1000 genomes]
rs62171496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62171506	0.81[ASN][1000 genomes]
rs6761373	0.83[ASN][1000 genomes]
rs7594732	0.90[ASN][1000 genomes]
rs849189	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs849194	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849198	0.86[ASN][1000 genomes]
rs849200	0.86[ASN][1000 genomes]
rs849207	0.86[ASN][1000 genomes]
rs849208	0.84[ASN][1000 genomes]
rs849216	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs849218	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849219	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849220	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs849221	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849222	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849223	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849224	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs849250	0.90[ASN][1000 genomes]
rs907462	0.85[ASN][1000 genomes]
rs979187	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1207440	FAM119A	cis	cerebellum	SCAN
rs1207440	NDUFB3	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206168600-206190600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:206171000-206186200	Weak transcription	HSMMtube	muscle
3	chr2:206171000-206190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:206172600-206185400	Weak transcription	HSMM	muscle
5	chr2:206178600-206186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:206179800-206185200	Weak transcription	Fetal Heart	heart
7	chr2:206180800-206188200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:206182400-206187000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:206183400-206184000	Strong transcription	Left Ventricle	heart
10	chr2:206183400-206184400	ZNF genes & repeats	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links