Variant report

Variant	rs6978060
Chromosome Location	chr7:3919195-3919196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10085400	0.90[ASN][1000 genomes]
rs10085568	0.90[ASN][1000 genomes]
rs1013880	0.85[ASN][1000 genomes]
rs10215004	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10215340	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10228397	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10241703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242459	1.00[ASN][1000 genomes]
rs10243770	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244636	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10245389	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10246449	0.90[ASN][1000 genomes]
rs10249255	0.87[ASN][1000 genomes]
rs10252169	0.90[ASN][1000 genomes]
rs10254099	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256741	0.90[ASN][1000 genomes]
rs10262942	0.85[ASN][1000 genomes]
rs10263496	0.89[ASN][1000 genomes]
rs10267786	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10273444	0.98[ASN][1000 genomes]
rs10479833	0.82[ASN][1000 genomes]
rs10479834	0.82[ASN][1000 genomes]
rs10480105	0.82[ASN][1000 genomes]
rs10485864	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10951336	0.82[ASN][1000 genomes]
rs10951368	0.87[ASN][1000 genomes]
rs10951374	0.87[ASN][1000 genomes]
rs11514766	0.85[ASN][1000 genomes]
rs11971293	0.85[ASN][1000 genomes]
rs11973090	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11973380	0.85[ASN][1000 genomes]
rs11974190	0.97[ASN][1000 genomes]
rs11974357	0.85[ASN][1000 genomes]
rs11976915	0.83[ASN][1000 genomes]
rs11977993	0.83[ASN][1000 genomes]
rs11980947	0.85[ASN][1000 genomes]
rs11982345	0.84[ASN][1000 genomes]
rs11983563	0.85[ASN][1000 genomes]
rs12531046	0.88[ASN][1000 genomes]
rs12532171	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12532903	0.83[ASN][1000 genomes]
rs12532912	0.83[ASN][1000 genomes]
rs12533946	0.85[ASN][1000 genomes]
rs12540101	0.83[ASN][1000 genomes]
rs12690803	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12690804	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12701219	0.82[ASN][1000 genomes]
rs12701221	0.83[ASN][1000 genomes]
rs12701229	0.83[ASN][1000 genomes]
rs12701262	0.88[ASN][1000 genomes]
rs12701271	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12701272	0.85[ASN][1000 genomes]
rs13221624	0.80[ASN][1000 genomes]
rs13236653	0.82[ASN][1000 genomes]
rs13245096	0.85[ASN][1000 genomes]
rs1476644	0.87[ASN][1000 genomes]
rs17261199	0.98[ASN][1000 genomes]
rs1962783	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962784	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962785	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007554	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057919	1.00[ASN][1000 genomes]
rs2057920	1.00[ASN][1000 genomes]
rs2057921	1.00[ASN][1000 genomes]
rs2079376	0.85[ASN][1000 genomes]
rs2079377	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079378	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2097899	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2097900	0.82[ASN][1000 genomes]
rs2341959	0.80[ASN][1000 genomes]
rs28491320	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880159	0.85[ASN][1000 genomes]
rs2880204	0.82[ASN][1000 genomes]
rs28845270	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34614163	0.82[ASN][1000 genomes]
rs34730154	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34960833	0.82[ASN][1000 genomes]
rs35261333	0.82[ASN][1000 genomes]
rs35712888	0.80[ASN][1000 genomes]
rs4431501	1.00[ASN][1000 genomes]
rs6462407	1.00[ASN][1000 genomes]
rs6462411	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462412	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462413	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6462418	0.82[ASN][1000 genomes]
rs6462423	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6944393	0.92[ASN][1000 genomes]
rs6948552	0.90[ASN][1000 genomes]
rs6952864	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953036	0.82[ASN][1000 genomes]
rs6953282	1.00[ASN][1000 genomes]
rs6953707	0.85[ASN][1000 genomes]
rs6954370	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955650	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956020	0.85[ASN][1000 genomes]
rs6956479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957166	0.90[ASN][1000 genomes]
rs6957676	0.90[ASN][1000 genomes]
rs6958385	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958535	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959492	0.90[ASN][1000 genomes]
rs6959674	0.85[ASN][1000 genomes]
rs6959835	0.85[ASN][1000 genomes]
rs6961561	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6962058	0.89[ASN][1000 genomes]
rs6962389	0.89[ASN][1000 genomes]
rs6962750	0.85[ASN][1000 genomes]
rs6963058	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963674	1.00[ASN][1000 genomes]
rs6966030	0.80[ASN][1000 genomes]
rs6968148	1.00[ASN][1000 genomes]
rs6968267	1.00[ASN][1000 genomes]
rs6968272	1.00[ASN][1000 genomes]
rs6968444	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968948	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969052	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6970116	1.00[ASN][1000 genomes]
rs6971639	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971803	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971873	0.85[ASN][1000 genomes]
rs6971953	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972806	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975723	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6977305	0.84[ASN][1000 genomes]
rs6977844	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6978318	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783415	0.87[ASN][1000 genomes]
rs7786556	0.81[ASN][1000 genomes]
rs7800775	0.93[ASN][1000 genomes]
rs7804166	0.95[ASN][1000 genomes]
rs7807003	0.82[ASN][1000 genomes]
rs7809616	0.93[ASN][1000 genomes]
rs7811839	0.83[ASN][1000 genomes]
rs874344	0.85[ASN][1000 genomes]
rs917168	0.98[ASN][1000 genomes]
rs9655007	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9655343	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655347	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9655348	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9886069	0.84[ASN][1000 genomes]
rs9886234	0.81[AMR][1000 genomes];0.87[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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv887336	chr7:3870810-3934909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887337	chr7:3886254-3934909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1019190	chr7:3896634-3943566	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2756053	chr7:3910039-3920129	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised 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	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3914200-3923800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3918800-3919200	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:3918800-3920000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:3918800-3920600	Enhancers	Fetal Brain Male	brain
7	chr7:3919000-3919400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:3919000-3920000	Enhancers	Fetal Brain Female	brain
9	chr7:3919000-3920200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:3919000-3920200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:3919000-3920200	Enhancers	Fetal Stomach	stomach
12	chr7:3919000-3920600	Enhancers	Fetal Lung	lung
13	chr7:3919000-3920600	Enhancers	Fetal Muscle Leg	muscle

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