Variant report

Variant	rs11972647
Chromosome Location	chr7:3503473-3503474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10499339	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971344	1.00[ASN][1000 genomes]
rs11971403	1.00[ASN][1000 genomes]
rs11972733	1.00[ASN][1000 genomes]
rs11972798	1.00[ASN][1000 genomes]
rs11973104	1.00[ASN][1000 genomes]
rs11973367	1.00[ASN][1000 genomes]
rs11973741	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973763	1.00[ASN][1000 genomes]
rs11973959	1.00[ASN][1000 genomes]
rs11974565	1.00[ASN][1000 genomes]
rs11975560	0.83[EUR][1000 genomes]
rs11975595	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975833	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978310	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978422	1.00[ASN][1000 genomes]
rs11979623	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979985	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980041	0.81[EUR][1000 genomes]
rs11981004	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981125	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981422	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981998	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982548	0.88[EUR][1000 genomes]
rs11982674	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983288	1.00[ASN][1000 genomes]
rs11983341	1.00[ASN][1000 genomes]
rs11984433	1.00[ASN][1000 genomes]
rs1522503	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133260	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133277	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133284	1.00[ASN][1000 genomes]
rs17133303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133309	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133324	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133354	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133377	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133394	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133406	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133423	1.00[ASN][1000 genomes]
rs17133429	1.00[ASN][1000 genomes]
rs17133437	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133448	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133485	1.00[ASN][1000 genomes]
rs17133545	1.00[ASN][1000 genomes]
rs17133548	1.00[ASN][1000 genomes]
rs17150661	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741019	1.00[ASN][1000 genomes]
rs17741730	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090941	1.00[ASN][1000 genomes]
rs2178629	1.00[ASN][1000 genomes]
rs2222407	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222408	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528961	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34888067	0.92[EUR][1000 genomes]
rs4358699	1.00[ASN][1000 genomes]
rs4428572	1.00[ASN][1000 genomes]
rs55716539	1.00[ASN][1000 genomes]
rs55936101	1.00[ASN][1000 genomes]
rs55944002	1.00[ASN][1000 genomes]
rs56064609	0.92[EUR][1000 genomes]
rs56138263	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56175518	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56193850	1.00[ASN][1000 genomes]
rs56217543	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228709	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331655	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57534358	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57585396	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297549	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59021191	1.00[ASN][1000 genomes]
rs59076306	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59971325	1.00[ASN][1000 genomes]
rs60243572	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60418263	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682391	1.00[ASN][1000 genomes]
rs61039995	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492969	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540307	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66546301	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66664718	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66665337	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790405	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66941572	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67179422	1.00[ASN][1000 genomes]
rs67404848	0.94[EUR][1000 genomes]
rs67447866	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67498702	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67691723	1.00[ASN][1000 genomes]
rs67806403	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67924867	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68115111	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68165343	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942774	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943523	0.87[EUR][1000 genomes]
rs6945265	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948557	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952184	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955021	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959134	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959489	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962043	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963043	1.00[ASN][1000 genomes]
rs6969044	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969455	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969711	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974121	1.00[ASN][1000 genomes]
rs6977110	1.00[ASN][1000 genomes]
rs73034713	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034779	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035928	1.00[ASN][1000 genomes]
rs73035931	1.00[ASN][1000 genomes]
rs73035936	1.00[ASN][1000 genomes]
rs73035941	1.00[ASN][1000 genomes]
rs73035942	1.00[ASN][1000 genomes]
rs73035975	1.00[ASN][1000 genomes]
rs73035985	1.00[ASN][1000 genomes]
rs73036002	1.00[ASN][1000 genomes]
rs73036706	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036757	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036762	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036799	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038513	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038551	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038553	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038557	1.00[ASN][1000 genomes]
rs73038581	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038584	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046699	1.00[ASN][1000 genomes]
rs73046702	1.00[ASN][1000 genomes]
rs73048614	1.00[ASN][1000 genomes]
rs73048621	1.00[ASN][1000 genomes]
rs73048624	1.00[ASN][1000 genomes]
rs73048628	1.00[ASN][1000 genomes]
rs73048630	1.00[ASN][1000 genomes]
rs73048631	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048634	1.00[ASN][1000 genomes]
rs73048643	1.00[ASN][1000 genomes]
rs73048645	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048648	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048655	1.00[ASN][1000 genomes]
rs73048661	1.00[ASN][1000 genomes]
rs73048668	1.00[ASN][1000 genomes]
rs73048672	1.00[ASN][1000 genomes]
rs73048676	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048677	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048700	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050200	1.00[ASN][1000 genomes]
rs73050503	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050538	1.00[ASN][1000 genomes]
rs73050542	1.00[ASN][1000 genomes]
rs73051831	1.00[ASN][1000 genomes]
rs73052642	1.00[ASN][1000 genomes]
rs7778916	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779193	1.00[ASN][1000 genomes]
rs7783541	0.85[EUR][1000 genomes]
rs7785207	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786415	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794138	1.00[ASN][1000 genomes]
rs7808804	0.91[EUR][1000 genomes]
rs9771086	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030484	chr7:3364990-3506102	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1018105	chr7:3365441-3506102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv605893	chr7:3368197-3505231	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1029937	chr7:3408050-3506316	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv538668	chr7:3408050-3506316	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887330	chr7:3424878-3515437	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv887332	chr7:3455249-3521000	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv605903	chr7:3472721-3527925	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv887333	chr7:3475716-3542488	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv869723	chr7:3482682-3566293	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1026295	chr7:3485871-3505092	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
25	nsv464270	chr7:3490865-3581357	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv605904	chr7:3490865-3581357	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
3	chr7:3493600-3506000	Weak transcription	HSMM	muscle
4	chr7:3496000-3507000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:3499800-3504000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:3500200-3505600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:3500800-3506000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:3501600-3505400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:3501600-3506000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:3501600-3506200	Enhancers	Primary T cells from cord blood	blood
11	chr7:3502000-3504000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:3502000-3504200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
14	chr7:3503200-3503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:3503200-3503600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:3503200-3503800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:3503200-3504000	Enhancers	HepG2	liver
18	chr7:3503200-3504200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:3503400-3504200	Enhancers	Fetal Lung	lung

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