Variant report

Variant	rs7971422
Chromosome Location	chr12:87444015-87444016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10777014	0.83[ASN][1000 genomes]
rs10777016	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10777017	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10777020	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858541	0.93[ASN][1000 genomes]
rs10858550	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10858551	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10858552	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10858553	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10858555	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10858557	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10858560	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11104240	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11104255	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11104276	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11104287	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11104288	0.93[AMR][1000 genomes]
rs11104289	0.91[AMR][1000 genomes]
rs11104290	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11104291	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11104292	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11104293	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11104294	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11104301	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11104305	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11104306	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12227528	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231093	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12308273	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12310504	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12311381	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422524	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12425011	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12425030	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12813510	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12813826	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1326736	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1344794	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1344795	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1347217	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1368563	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1368564	0.92[AMR][1000 genomes]
rs1409596	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1409597	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1433328	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1433329	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1433330	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1433331	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1433332	0.93[ASN][1000 genomes]
rs1433333	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1583313	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1583314	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17314381	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1882660	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1897631	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1897633	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1922753	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2053090	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2053091	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2053092	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2117015	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2117016	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2117017	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2406735	0.93[ASN][1000 genomes]
rs2406736	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2897503	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2897509	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4842543	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67092872	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67550411	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7134010	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138714	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7139356	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7316038	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7487188	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7954553	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7964342	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967533	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7969732	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7970360	0.93[AMR][1000 genomes]
rs7974893	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559693	chr12:87216285-87447757	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv899403	chr12:87225050-87528020	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2753551	chr12:87226774-87473947	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899406	chr12:87233995-87528020	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899407	chr12:87254691-87506910	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv2752961	chr12:87255339-87465826	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv2754599	chr12:87255339-87491053	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2755612	chr12:87260646-87460465	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv2755080	chr12:87260646-87465826	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv2754967	chr12:87281456-87491053	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv519543	chr12:87307329-87528020	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv899408	chr12:87319908-87490752	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv899409	chr12:87319908-87506910	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv899410	chr12:87319908-87528020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv899411	chr12:87339195-87459912	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv899412	chr12:87346094-87506910	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1044248	chr12:87357657-87444309	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv899413	chr12:87378980-87490752	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv899414	chr12:87378980-87506910	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv559698	chr12:87435308-87479405	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv3360874	chr12:87441921-87445819	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv559699	chr12:87442480-87491505	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv899415	chr12:87442480-87528020	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv899416	chr12:87442480-87588533	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv3419852	chr12:87443671-87444819	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain

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