Variant report

Variant	rs73046702
Chromosome Location	chr7:3375997-3375998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:3375654-3376089	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr7:3375590-3376171	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr7:3375616-3376195	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr7:3375627-3376173	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:3375708-3376049	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr7:3375997-3376103	MCF-7	breast:	n/a	n/a
7	MXI1	chr7:3375932-3376010	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:3375988-3376097	ProgFib	skin:	n/a	n/a
9	SIN3A	chr7:3375773-3376037	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000224593	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs11972647	1.00[ASN][1000 genomes]
rs11972733	1.00[ASN][1000 genomes]
rs11973104	1.00[ASN][1000 genomes]
rs11973436	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973741	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974237	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974565	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975560	0.93[EUR][1000 genomes]
rs11975595	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978310	1.00[ASN][1000 genomes]
rs11979270	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981004	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981125	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981207	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981998	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982674	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983341	1.00[ASN][1000 genomes]
rs12700786	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700790	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700791	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236105	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404872	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522503	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133260	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133277	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133284	1.00[ASN][1000 genomes]
rs17133303	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133309	1.00[ASN][1000 genomes]
rs17133324	1.00[ASN][1000 genomes]
rs17133354	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741019	1.00[ASN][1000 genomes]
rs17741730	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178629	1.00[ASN][1000 genomes]
rs2222407	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222408	1.00[ASN][1000 genomes]
rs28528961	1.00[ASN][1000 genomes]
rs34431029	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34466031	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34727194	1.00[ASN][1000 genomes]
rs35298757	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268017	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358699	1.00[ASN][1000 genomes]
rs4428572	1.00[ASN][1000 genomes]
rs4509207	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560699	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55944002	1.00[ASN][1000 genomes]
rs56064609	0.84[EUR][1000 genomes]
rs56138263	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56175518	1.00[ASN][1000 genomes]
rs56193850	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217543	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331655	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57534358	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57535226	0.96[EUR][1000 genomes]
rs57585396	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297549	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58338081	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59021191	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59076306	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59296189	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59478367	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59673826	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60243572	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60418263	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682391	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61039995	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61401313	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492969	1.00[ASN][1000 genomes]
rs66540307	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66546301	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66665337	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790405	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66941572	1.00[ASN][1000 genomes]
rs67447866	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67498702	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67637487	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67691723	1.00[ASN][1000 genomes]
rs67806403	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67924867	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68115111	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68165343	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942774	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943523	0.89[EUR][1000 genomes]
rs6944617	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944745	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945265	1.00[ASN][1000 genomes]
rs6945914	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946840	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948557	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952184	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955021	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959134	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959489	1.00[ASN][1000 genomes]
rs6962043	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963043	1.00[ASN][1000 genomes]
rs6964818	0.96[EUR][1000 genomes]
rs6969044	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969455	0.87[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]
rs73034713	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034779	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036706	1.00[ASN][1000 genomes]
rs73036757	1.00[ASN][1000 genomes]
rs73036762	1.00[ASN][1000 genomes]
rs73046618	0.88[EUR][1000 genomes]
rs73046656	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046658	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046661	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046682	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046689	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046694	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048617	0.96[EUR][1000 genomes]
rs73048621	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048624	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048628	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048630	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048631	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048634	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048643	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048645	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048648	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048655	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048661	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048668	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048672	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048676	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048677	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048700	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050503	0.89[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]
rs7778916	1.00[ASN][1000 genomes]
rs7779193	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782339	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783541	0.87[EUR][1000 genomes]
rs7785207	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786415	1.00[ASN][1000 genomes]
rs7792929	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807563	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808804	0.82[EUR][1000 genomes]
rs9771086	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv1019492	chr7:3359294-3479972	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv538663	chr7:3359294-3479972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2757204	chr7:3359491-3460355	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1028585	chr7:3364990-3400105	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	nsv1026361	chr7:3366960-3502600	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv538664	chr7:3366960-3502600	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	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
23	nsv887325	chr7:3373820-3418411	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv966747	chr7:3374201-3384313	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv887326	chr7:3374848-3418411	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3359000-3385800	Weak transcription	Pancreas	Pancrea
2	chr7:3363400-3377800	Weak transcription	Aorta	Aorta
3	chr7:3373200-3377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3373400-3378200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:3375400-3376200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:3375600-3376000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:3375600-3376000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:3375600-3376000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:3375600-3376000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:3375600-3376200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3375800-3376200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:3375800-3376200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:3375800-3376600	Enhancers	Esophagus	oesophagus

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