Variant report

Variant	rs34764568
Chromosome Location	chr16:71657605-71657606
allele	G/T
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	FOXA2	chr16:71657381-71658167	HepG2	liver:	n/a	n/a
2	ELF1	chr16:71657545-71657860	HepG2	liver:	n/a	n/a
3	FOXA1	chr16:71657368-71657997	HepG2	liver:	n/a	n/a
4	HNF4A	chr16:71657466-71657806	HepG2	liver:	n/a	n/a
5	RAD21	chr16:71657507-71657712	HepG2	liver:	n/a	n/a
6	SPI1	chr16:71657558-71657830	GM12891	blood:	n/a	chr16:71657671-71657678
7	FOXA1	chr16:71657337-71657866	HepG2	liver:	n/a	n/a
8	SPI1	chr16:71657518-71657838	GM12891	blood:	n/a	chr16:71657671-71657678
9	ESRRA	chr16:71657265-71658022	GM12878	blood:	n/a	n/a
10	HNF4A	chr16:71657447-71657841	HepG2	liver:	n/a	n/a
11	EP300	chr16:71657502-71657839	HepG2	liver:	n/a	chr16:71657624-71657634 chr16:71657583-71657597
12	FOXA2	chr16:71657520-71657889	HepG2	liver:	n/a	n/a
13	FOXA1	chr16:71657420-71657904	HepG2	liver:	n/a	n/a
14	HNF4G	chr16:71657437-71657855	HepG2	liver:	n/a	n/a
15	RCOR1	chr16:71657537-71657797	HepG2	liver:	n/a	n/a
16	MYBL2	chr16:71657337-71657960	HepG2	liver:	n/a	n/a
17	FOXA1	chr16:71657526-71658005	HepG2	liver:	n/a	n/a
18	HNF4G	chr16:71657464-71657842	HepG2	liver:	n/a	n/a
19	ARID3A	chr16:71657501-71657779	HepG2	liver:	n/a	n/a
20	HDAC2	chr16:71657546-71657899	HepG2	liver:	n/a	n/a
21	CUX1	chr16:71657489-71657689	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71598139..71600865-chr16:71657563..71661455,3	MCF-7	breast:

Variant related genes	Relation type
MARVELD3	TF binding region
ENSG00000157429	Chromatin interaction
ENSG00000260886	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1035545	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10500559	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1058747	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075889	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075890	0.87[ASN][1000 genomes]
rs11075891	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075892	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075900	0.85[EUR][1000 genomes]
rs11075902	0.85[EUR][1000 genomes]
rs11539980	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11641873	0.85[EUR][1000 genomes]
rs11643690	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645467	0.85[EUR][1000 genomes]
rs11646635	0.85[EUR][1000 genomes]
rs11646748	0.85[EUR][1000 genomes]
rs11647873	0.81[ASN][1000 genomes]
rs11648240	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11648674	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11862798	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12051443	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12051449	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12051506	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12444484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447856	0.85[EUR][1000 genomes]
rs12448226	0.91[EUR][1000 genomes]
rs12597065	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12920243	0.86[EUR][1000 genomes]
rs12924258	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12925587	0.82[EUR][1000 genomes]
rs12926987	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12927320	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12930206	0.85[EUR][1000 genomes]
rs12930418	0.84[ASN][1000 genomes]
rs12932850	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12935426	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1392483	0.80[EUR][1000 genomes]
rs1392487	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1477386	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1582589	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs172649	0.81[AMR][1000 genomes]
rs172650	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2032920	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036337	0.85[EUR][1000 genomes]
rs2036338	0.85[EUR][1000 genomes]
rs2113222	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270830	0.85[EUR][1000 genomes]
rs2270831	0.85[EUR][1000 genomes]
rs2270832	0.85[EUR][1000 genomes]
rs2278031	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2303224	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303225	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2334879	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2334883	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2334884	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2432519	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2432520	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28439683	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28582831	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28636800	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28704189	0.82[EUR][1000 genomes]
rs310331	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34161748	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34401601	0.80[EUR][1000 genomes]
rs34734042	0.86[EUR][1000 genomes]
rs35173463	0.85[EUR][1000 genomes]
rs35939203	0.91[ASN][1000 genomes]
rs3751817	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3752681	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3829537	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925658	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4788442	0.85[EUR][1000 genomes]
rs4788544	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788546	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788547	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788549	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788551	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4788552	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4788554	0.85[EUR][1000 genomes]
rs4788558	0.82[EUR][1000 genomes]
rs4788809	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788812	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788814	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788817	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788826	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788827	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57997630	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60881203	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62053077	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053078	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053107	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62053108	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7185997	0.85[EUR][1000 genomes]
rs7186717	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7188406	0.89[ASN][1000 genomes]
rs7195840	0.95[ASN][1000 genomes]
rs7206039	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7404381	0.86[EUR][1000 genomes]
rs8048057	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8048210	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8052489	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8052999	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8056823	0.82[ASN][1000 genomes]
rs8060867	0.86[EUR][1000 genomes]
rs8062441	0.84[EUR][1000 genomes]
rs8062477	0.85[EUR][1000 genomes]
rs8203	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs918721	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs951453	0.85[EUR][1000 genomes]
rs951939	0.85[EUR][1000 genomes]
rs979789	0.87[ASN][1000 genomes]
rs9921270	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9922054	0.84[EUR][1000 genomes]
rs9923264	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9923336	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925069	0.82[EUR][1000 genomes]
rs9925228	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9927336	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9927437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9930543	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9931717	0.81[EUR][1000 genomes]
rs9932415	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9933961	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9936903	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9937280	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9939455	0.85[EUR][1000 genomes]
rs9939471	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9939658	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940142	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9940217	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9940990	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3430225	chr16:71633500-71661205	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71650400-71658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:71655600-71657800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:71656800-71658200	Enhancers	Liver	Liver
4	chr16:71656800-71658800	Flanking Active TSS	HepG2	liver
5	chr16:71656800-71659600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:71657000-71658200	Enhancers	GM12878-XiMat	blood
7	chr16:71657200-71657800	Enhancers	HSMMtube	muscle
8	chr16:71657400-71658000	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr16:71657600-71657800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr16:71657600-71657800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr16:71657600-71657800	Enhancers	Duodenum Mucosa	Duodenum
12	chr16:71657600-71657800	Enhancers	Fetal Intestine Large	intestine
13	chr16:71657600-71657800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr16:71657600-71658000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:71657600-71658000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr16:71657600-71659600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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