Variant report

Variant	rs972007
Chromosome Location	chr5:40905456-40905457
allele	A/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	RAD21	chr5:40903886-40906018	SK-N-SH	brain:	n/a	chr5:40904995-40905014 chr5:40904652-40904659
2	SMC3	chr5:40904163-40905520	SK-N-SH	brain:	n/a	chr5:40904996-40905010
3	CHD1	chr5:40904767-40905697	IMR90	lung:	n/a	n/a
4	CTCF	chr5:40904365-40905629	A549	lung:	n/a	chr5:40904995-40905011 chr5:40904994-40905012 chr5:40904996-40905017 chr5:40904997-40905006
5	CTCF	chr5:40905320-40905470	GM12878	blood:	n/a	n/a
6	CTCF	chr5:40904304-40905524	SK-N-SH	brain:	n/a	chr5:40904995-40905011 chr5:40904994-40905012 chr5:40904996-40905017 chr5:40904997-40905006

No.	Distal block	Cell Line	Cell type
1	chr5:40904833..40905459-chr5:41270472..41271168,3	MCF-7	breast:
2	chr5:40904937..40905544-chr5:41641443..41642188,2	K562	blood:
3	chr5:40904832..40905544-chr5:41118009..41119184,4	MCF-7	breast:
4	chr5:40904574..40905604-chr5:41346513..41347365,3	MCF-7	breast:
5	chr5:40904493..40905461-chr5:40962028..40963060,5	MCF-7	breast:

Variant related genes	Relation type
C7	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035225	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10035592	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10035621	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041257	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041319	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10046046	0.83[ASN][1000 genomes]
rs10051758	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10051888	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10054615	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10054948	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10056047	0.91[EUR][1000 genomes]
rs10056708	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10058274	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10059679	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10060965	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063892	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10066847	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10072099	0.91[ASN][1000 genomes]
rs10072128	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072214	0.98[ASN][1000 genomes]
rs10073246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10076486	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076663	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10077786	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10078706	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10079875	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10080165	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10472340	0.91[ASN][1000 genomes]
rs10472342	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10472344	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10473219	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10473220	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10473221	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10473227	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512750	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941526	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10941527	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1120308	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739731	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741315	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746650	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11748194	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12109051	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12110278	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652909	0.91[ASN][1000 genomes]
rs12657195	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658133	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659571	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13353861	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13353862	0.81[ASN][1000 genomes]
rs13353865	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13354307	0.83[ASN][1000 genomes]
rs13354561	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13355045	0.83[ASN][1000 genomes]
rs13360188	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1393155	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1393156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1615402	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1645519	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16870407	0.81[ASN][1000 genomes]
rs16870425	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16870434	0.83[ASN][1000 genomes]
rs16870491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1697939	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1697940	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1697941	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1697942	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1827363	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1827366	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1827367	0.93[EUR][1000 genomes]
rs188932	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2081153	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225749	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2329430	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432155	0.85[EUR][1000 genomes]
rs2455303	0.95[EUR][1000 genomes]
rs2455307	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455308	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876848	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28770573	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28831497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28834109	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28860325	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28870511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs323555	0.85[EUR][1000 genomes]
rs323557	0.91[EUR][1000 genomes]
rs323558	0.91[EUR][1000 genomes]
rs323559	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs323563	0.85[EUR][1000 genomes]
rs323564	0.85[EUR][1000 genomes]
rs323566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34888872	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369331	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs373411	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3792640	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792641	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792642	0.85[EUR][1000 genomes]
rs4277953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4277954	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439322	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461680	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446920	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4559041	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567165	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs619491	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62357063	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62357601	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62357603	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62357605	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62357612	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62357636	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357641	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62358575	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358580	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72749504	0.83[ASN][1000 genomes]
rs72749508	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72749510	0.91[ASN][1000 genomes]
rs72749514	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72749521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72749526	0.99[ASN][1000 genomes]
rs7445411	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7701643	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701662	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701871	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704691	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706776	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711745	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7716062	0.95[EUR][1000 genomes]
rs7717388	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7717391	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7717457	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7717794	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721703	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7724262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731772	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7731944	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7733440	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs837387	0.82[EUR][1000 genomes]
rs9292788	0.85[EUR][1000 genomes]
rs9292790	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9292793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292794	0.99[ASN][1000 genomes]
rs9292795	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292798	0.95[EUR][1000 genomes]
rs972008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885543	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40897000-40906200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40903200-40906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:40903600-40905600	Enhancers	Liver	Liver
4	chr5:40903600-40906600	Enhancers	Ovary	ovary
5	chr5:40903800-40905600	Enhancers	Adipose Nuclei	Adipose
6	chr5:40903800-40906000	Enhancers	Fetal Heart	heart
7	chr5:40904200-40905600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr5:40904200-40905600	Enhancers	Fetal Lung	lung
9	chr5:40904400-40907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:40904600-40909600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:40904800-40905800	Enhancers	HepG2	liver
12	chr5:40905000-40905600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:40905000-40905600	Enhancers	Fetal Intestine Large	intestine
14	chr5:40905000-40905600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:40905200-40905600	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:40905200-40907400	Enhancers	Fetal Intestine Small	intestine
17	chr5:40905200-40909000	Weak transcription	Fetal Kidney	kidney
18	chr5:40905400-40905600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:40905400-40906200	Weak transcription	Pancreas	Pancrea
20	chr5:40905400-40907400	Weak transcription	Aorta	Aorta
21	chr5:40905400-40908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:40905400-40908800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:40905400-40909200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:40905400-40909200	Weak transcription	Stomach Mucosa	stomach
25	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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