Variant report

Variant	rs6943753
Chromosome Location	chr7:145632627-145632628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:145620799..145622783-chr7:145631883..145633696,2	K562	blood:
2	chr7:145620799..145623095-chr7:145631387..145633696,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10500159	0.92[EUR][1000 genomes]
rs11976470	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978430	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981181	0.92[EUR][1000 genomes]
rs17169901	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17169904	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17169920	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17399452	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17399702	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17400057	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17477958	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17478027	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17478068	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2177426	0.92[EUR][1000 genomes]
rs4320473	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4342507	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4392813	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4601231	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55744549	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55928206	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56076558	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56096631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56104157	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56129818	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56207729	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56219655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56325142	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56339557	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56357751	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56388832	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57169134	0.92[EUR][1000 genomes]
rs57475264	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57703002	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57903817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58424380	0.92[EUR][1000 genomes]
rs58735852	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59126724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59138070	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59273605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59452616	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59472640	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59488578	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59491782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59677597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59696775	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59842185	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59950909	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60031396	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60166573	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60356490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60445641	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60472188	0.92[EUR][1000 genomes]
rs60473071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61482891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61566050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61637054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6464706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6464707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6943520	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6946760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952156	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963156	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970441	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975640	0.92[EUR][1000 genomes]
rs6978878	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460940	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460942	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460951	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460952	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460960	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460964	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460965	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460969	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460971	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460973	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460974	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460978	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460980	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460982	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460985	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460986	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460987	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460992	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460995	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460997	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461001	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461002	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462803	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462822	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462824	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462827	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462842	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462845	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73462846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736222	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736236	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736242	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736243	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736244	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736246	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736250	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736252	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736266	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73736273	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736274	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738403	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738405	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738406	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738407	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738409	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738418	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738433	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738453	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73738499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740111	0.92[EUR][1000 genomes]
rs73740115	0.92[EUR][1000 genomes]
rs73740116	0.92[EUR][1000 genomes]
rs7781653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7785275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7789517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7793538	0.92[EUR][1000 genomes]
rs7807526	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs866992	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv2754040	chr7:145303352-145698352	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2755386	chr7:145303352-145698352	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1019118	chr7:145483353-145639795	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv889385	chr7:145617629-145803095	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6943753	CNTNAP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145630000-145634800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:145630000-145634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:145630000-145635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links