Variant report

Variant	rs12700791
Chromosome Location	chr7:3358880-3358881
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3351745..3355702-chr7:3356161..3359964,4	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs11972733	1.00[ASN][1000 genomes]
rs11973104	1.00[ASN][1000 genomes]
rs11973436	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973741	1.00[ASN][1000 genomes]
rs11973959	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974237	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974565	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975560	0.84[EUR][1000 genomes]
rs11975595	1.00[ASN][1000 genomes]
rs11978310	1.00[ASN][1000 genomes]
rs11979270	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981004	1.00[ASN][1000 genomes]
rs11981125	1.00[ASN][1000 genomes]
rs11981207	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981998	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982674	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983341	1.00[ASN][1000 genomes]
rs12700786	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236105	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404872	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522503	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133260	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133277	1.00[ASN][1000 genomes]
rs17133284	1.00[ASN][1000 genomes]
rs17133303	1.00[ASN][1000 genomes]
rs17133309	1.00[ASN][1000 genomes]
rs17133324	1.00[ASN][1000 genomes]
rs17133354	1.00[ASN][1000 genomes]
rs17741019	1.00[ASN][1000 genomes]
rs17741730	1.00[ASN][1000 genomes]
rs2222407	1.00[ASN][1000 genomes]
rs2222408	1.00[ASN][1000 genomes]
rs2334059	0.91[AMR][1000 genomes]
rs34431029	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34466031	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34727194	1.00[ASN][1000 genomes]
rs35298757	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268017	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358699	1.00[ASN][1000 genomes]
rs4428572	1.00[ASN][1000 genomes]
rs4509207	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560699	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55944002	1.00[ASN][1000 genomes]
rs56138263	1.00[ASN][1000 genomes]
rs56193850	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217543	1.00[ASN][1000 genomes]
rs56331655	1.00[ASN][1000 genomes]
rs57534358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57535226	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57585396	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297549	1.00[ASN][1000 genomes]
rs58338081	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59021191	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59076306	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59296189	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59478367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59673826	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60243572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60418263	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682391	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61039995	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61401313	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492969	1.00[ASN][1000 genomes]
rs66540307	1.00[ASN][1000 genomes]
rs66546301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66665337	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790405	1.00[ASN][1000 genomes]
rs66941572	1.00[ASN][1000 genomes]
rs67447866	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67498702	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67637487	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67691723	1.00[ASN][1000 genomes]
rs67806403	1.00[ASN][1000 genomes]
rs67924867	1.00[ASN][1000 genomes]
rs68115111	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68165343	1.00[ASN][1000 genomes]
rs6942774	1.00[ASN][1000 genomes]
rs6943523	0.84[EUR][1000 genomes]
rs6944617	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944745	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945914	1.00[ASN][1000 genomes]
rs6946840	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948557	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952184	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955021	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959134	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962043	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963043	1.00[ASN][1000 genomes]
rs6964818	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6969044	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969455	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969711	1.00[ASN][1000 genomes]
rs6974121	1.00[ASN][1000 genomes]
rs6977110	1.00[ASN][1000 genomes]
rs6977532	0.83[EUR][1000 genomes]
rs73034713	1.00[ASN][1000 genomes]
rs73034779	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036706	1.00[ASN][1000 genomes]
rs73045613	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73045637	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73045677	0.84[EUR][1000 genomes]
rs73046618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046656	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046658	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046661	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046682	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046689	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046694	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046699	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046702	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048614	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048617	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73048621	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048624	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048628	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048630	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048631	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048634	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048643	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048645	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048648	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048655	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048661	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048668	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048672	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048676	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048677	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048700	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049436	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73049438	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73050503	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050538	1.00[ASN][1000 genomes]
rs73050542	1.00[ASN][1000 genomes]
rs73052642	1.00[ASN][1000 genomes]
rs7779193	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782339	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783541	0.82[EUR][1000 genomes]
rs7785207	1.00[ASN][1000 genomes]
rs7792929	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807563	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9771086	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv605892	chr7:3341589-3424878	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv981785	chr7:3353184-3367204	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3344600-3366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3346200-3362400	Weak transcription	Aorta	Aorta
3	chr7:3350200-3366800	Weak transcription	Fetal Brain Male	brain
4	chr7:3357000-3359400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:3357800-3361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:3358400-3359000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:3358400-3359000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:3358400-3359200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:3358600-3359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:3358600-3359200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:3358800-3359000	Enhancers	Pancreas	Pancrea
12	chr7:3358800-3359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:3358800-3360600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:3358800-3360800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:3358800-3366800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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