Variant report

Variant	rs10960717
Chromosome Location	chr9:12604796-12604797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10491742	1.00[CHB][hapmap]
rs1063380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1074789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10756406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10809803	0.81[EUR][1000 genomes]
rs10809809	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10809811	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10809813	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10809826	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10960716	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10960726	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10960730	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10960732	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10960735	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10960762	1.00[CHB][hapmap]
rs1121541	0.81[EUR][1000 genomes]
rs12379260	1.00[CHB][hapmap]
rs1325117	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1325122	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1326798	1.00[CHB][hapmap]
rs13283146	0.81[EUR][1000 genomes]
rs13284327	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13284453	1.00[CHB][hapmap]
rs13284898	1.00[CHB][hapmap]
rs13288558	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13302551	1.00[CHB][hapmap]
rs1408790	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408794	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1543587	1.00[CHB][hapmap]
rs1590481	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17346161	1.00[CHB][hapmap]
rs1886586	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209277	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2224863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733830	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733831	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733832	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733834	1.00[CHB][hapmap]
rs2733836	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2762458	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2762461	1.00[CHB][hapmap]
rs2762463	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2762464	1.00[CHB][hapmap]
rs4741245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs683	1.00[CHB][hapmap]
rs7023927	1.00[CHB][hapmap]
rs7026116	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7035500	1.00[CHB][hapmap]
rs7047297	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs713596	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853779	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs927868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs927869	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs958073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs995263	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892557	chr9:12168247-12663561	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv892558	chr9:12178984-12687872	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028087	chr9:12196141-12651259	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv540061	chr9:12196141-12651259	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1027260	chr9:12196141-12709959	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv540062	chr9:12196141-12709959	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2758181	chr9:12235048-12621991	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2759671	chr9:12235048-12784092	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1034393	chr9:12278703-12798236	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1022232	chr9:12326552-12643876	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv1029415	chr9:12424340-12794623	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv540064	chr9:12424340-12794623	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv428535	chr9:12489903-12622041	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1030557	chr9:12505018-12637189	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv831513	chr9:12531673-12695747	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv892571	chr9:12540358-12624463	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1828681	chr9:12540358-12628213	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv892572	chr9:12549675-12715816	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1027465	chr9:12576095-12613216	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1019890	chr9:12576095-12617791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1016570	chr9:12576095-12722387	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3482975	chr9:12580707-12616472	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3482976	chr9:12580707-12616472	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv613608	chr9:12581270-12611123	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv516127	chr9:12581270-12612897	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv613609	chr9:12581270-12612897	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv2764164	chr9:12581785-12613216	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1025461	chr9:12581785-12613216	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1029917	chr9:12581785-12617385	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1029167	chr9:12586208-12613216	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12604000-12605200	Enhancers	Fetal Heart	heart
2	chr9:12604000-12605200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr9:12604600-12605800	Weak transcription	Psoas Muscle	Psoas

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