Variant report

Variant	rs4297693
Chromosome Location	chr16:31706929-31706930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:31706893-31707070	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31514087..31516240-chr16:31705788..31707516,2	MCF-7	breast:
2	chr16:31461791..31465171-chr16:31706376..31712369,7	MCF-7	breast:
3	chr16:31519409..31521517-chr16:31704267..31707028,3	MCF-7	breast:
4	chr16:31462018..31465168-chr16:31706757..31713127,6	MCF-7	breast:
5	chr16:31705842..31708474-chr16:31710893..31713650,2	MCF-7	breast:
6	chr16:31469723..31472313-chr16:31706900..31708423,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLUHP3	TF binding region
ENSG00000140691	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000260625	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1045483	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1073513	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1104549	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1104550	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11150632	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11150639	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11642525	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11643629	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12325485	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386038	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12921028	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12932938	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1304163	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358485	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1406178	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1468158	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468159	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528317	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1534506	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1599855	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609289	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1852667	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1881317	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1881318	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1919039	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2008774	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2078923	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2091521	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2097683	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2141349	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157969	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2188620	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2214139	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359220	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2359223	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2359228	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2359231	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3088127	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34632985	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751738	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3751742	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937426	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4499253	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4572414	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889679	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4889680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889687	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565266	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6565270	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565271	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6565277	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565284	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7187074	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7188748	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7192274	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7192670	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7195700	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197470	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197963	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7198038	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359491	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7498390	0.91[EUR][1000 genomes]
rs8043927	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8048027	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8048741	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8052434	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054649	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929209	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928595	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929259	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939255	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31704400-31708400	Weak transcription	K562	blood
2	chr16:31704800-31708600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr16:31705000-31708400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr16:31705000-31708600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr16:31705000-31711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:31705200-31708000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr16:31705200-31708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr16:31705200-31708600	Enhancers	Primary T cells from cord blood	blood
9	chr16:31705200-31708600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr16:31705600-31708000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31705800-31708000	Enhancers	Thymus	Thymus
12	chr16:31705800-31708200	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:31705800-31708400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr16:31706000-31707000	Weak transcription	Lung	lung
15	chr16:31706000-31707800	Enhancers	Dnd41	blood
16	chr16:31706000-31708600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:31706000-31708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:31706200-31707200	Weak transcription	Spleen	Spleen
19	chr16:31706200-31708000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr16:31706200-31708200	Weak transcription	Fetal Kidney	kidney
21	chr16:31706200-31708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:31706200-31711600	Weak transcription	Pancreas	Pancrea
23	chr16:31706400-31708000	Enhancers	Primary B cells from peripheral blood	blood
24	chr16:31706400-31708000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:31706400-31708000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:31706600-31708000	Enhancers	Fetal Thymus	thymus
27	chr16:31706800-31707400	Enhancers	Primary B cells from cord blood	blood
28	chr16:31706800-31707400	Enhancers	GM12878-XiMat	blood

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