Variant report

Variant	rs7135238
Chromosome Location	chr12:10631762-10631763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10845143	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053808	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11830819	0.89[EUR][1000 genomes]
rs12423025	0.80[ASN][1000 genomes]
rs12423464	0.80[ASN][1000 genomes]
rs12425047	0.80[ASN][1000 genomes]
rs12427017	0.89[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs12814304	0.89[EUR][1000 genomes]
rs12819494	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs12821887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12824469	0.89[EUR][1000 genomes]
rs12826560	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12830618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1851072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1971939	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2253365	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2294148	0.89[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2417740	0.87[EUR][1000 genomes]
rs2417741	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2417897	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2417898	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2734442	0.85[TSI][hapmap]
rs35078927	0.89[EUR][1000 genomes]
rs35318826	0.88[EUR][1000 genomes]
rs35683234	0.89[EUR][1000 genomes]
rs4763536	0.82[EUR][1000 genomes]
rs6488290	0.81[ASN][1000 genomes]
rs6488296	0.85[EUR][1000 genomes]
rs7131960	0.84[ASN][1000 genomes]
rs7138294	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728010	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7301325	0.84[ASN][1000 genomes]
rs7303771	0.85[EUR][1000 genomes]
rs7309785	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310149	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7342353	0.89[EUR][1000 genomes]
rs7952993	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7953443	0.83[CHB][hapmap]
rs7955196	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7957375	0.84[TSI][hapmap]
rs7962112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7969985	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs7972757	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs7980470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv557457	chr12:10545925-10698255	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv557458	chr12:10546140-10698255	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv870117	chr12:10565955-10648821	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv557477	chr12:10601690-10698255	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv557478	chr12:10604945-10698255	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs7135238	KLRC3	cis	parietal	SCAN
rs7135238	C11orf9	trans	lymphoblastoid	seeQTL
rs7135238	KLRC4	cis	parietal	SCAN
rs7135238	C1RL	cis	parietal	SCAN
rs7135238	KLRK1	cis	parietal	SCAN
rs7135238	PRB3	cis	cerebellum	SCAN
rs7135238	GPRC5A	cis	cerebellum	SCAN
rs7135238	KLRC3	cis	multi-tissue	Pritchard
rs7135238	KLRC2	cis	cerebellum	SCAN
rs7135238	ENO2	cis	parietal	SCAN
rs7135238	KLRK1	cis	lymphoblastoid	seeQTL
rs7135238	KLRC3	cis	cerebellum	SCAN
rs7135238	MIR331	trans	lymphoblastoid	seeQTL
rs7135238	LOC100192379	trans	lymphoblastoid	seeQTL
rs7135238	KLRC2	cis	parietal	SCAN
rs7135238	KLRC2	cis	multi-tissue	Pritchard
rs7135238	KLRK1	cis	multi-tissue	Pritchard
rs7135238	SCARNA10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10631600-10631800	Enhancers	Thymus	Thymus

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