Variant report

Variant	rs1477386
Chromosome Location	chr16:71600477-71600478
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr16:71599950-71600601	GM12878	blood:	n/a	n/a
2	WRNIP1	chr16:71600420-71600517	GM12878	blood:	n/a	n/a
3	IKZF1	chr16:71599282-71600534	GM12878	blood:	n/a	n/a
4	ZNF384	chr16:71600122-71600589	GM12878	blood:	n/a	n/a
5	FOXM1	chr16:71599909-71600490	GM12878	blood:	n/a	n/a
6	NFIC	chr16:71599147-71600569	GM12878	blood:	n/a	n/a
7	PML	chr16:71598526-71600513	GM12878	blood:	n/a	n/a
8	MTA3	chr16:71598263-71600521	GM12878	blood:	n/a	n/a
9	SPI1	chr16:71599847-71600545	GM12878	blood:	n/a	n/a
10	RCOR1	chr16:71599833-71600603	GM12878	blood:	n/a	n/a
11	CHD1	chr16:71599263-71600514	GM12878	blood:	n/a	n/a
12	STAT3	chr16:71600057-71600620	GM12878	blood:	n/a	n/a
13	MEF2A	chr16:71599900-71600482	GM12878	blood:	n/a	n/a
14	GATA1	chr16:71598028-71600536	PBDE	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71598139..71600865-chr16:71657563..71661455,3	MCF-7	breast:
2	chr16:71600353..71602131-chr16:71603528..71605411,2	K562	blood:
3	chr16:71598954..71602131-chr16:71602948..71606674,3	K562	blood:

No data

Variant related genes	Relation type
ZNF19	TF binding region
RNU6-1061P	TF binding region
ENSG00000140832	Chromatin interaction
ENSG00000198650	Chromatin interaction
ENSG00000260593	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1035545	0.87[CEU][hapmap]
rs10500559	0.81[ASN][1000 genomes]
rs1058747	0.87[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11075889	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11075890	0.90[ASN][1000 genomes]
rs11075891	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11075892	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11539980	0.87[CEU][hapmap];0.84[JPT][hapmap]
rs11643690	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11648240	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11648674	0.87[CEU][hapmap];0.84[JPT][hapmap]
rs11859729	0.83[JPT][hapmap]
rs11862798	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12051443	0.80[ASN][1000 genomes]
rs12051506	0.81[ASN][1000 genomes]
rs12444484	0.88[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12447856	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs12597065	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs12927320	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12930206	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs12932850	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1392487	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs1582589	0.88[CEU][hapmap];0.81[ASN][1000 genomes]
rs16973266	0.82[JPT][hapmap]
rs172649	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs172650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2032920	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2036338	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2113222	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270830	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2270831	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2270832	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs2278031	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2303224	0.80[ASN][1000 genomes]
rs2303225	0.91[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2334879	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2334883	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2334884	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2432519	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432524	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs310331	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34764568	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35939203	0.86[ASN][1000 genomes]
rs3752681	0.87[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3829537	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444347	0.84[JPT][hapmap]
rs4788544	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788546	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788547	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788549	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs4788551	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs4788809	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788812	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788814	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788817	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788821	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4788826	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs4788827	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs62053077	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62053078	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62053107	0.80[ASN][1000 genomes]
rs7185997	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs7186717	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7188406	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs7195840	0.85[ASN][1000 genomes]
rs7201754	0.83[JPT][hapmap]
rs7202288	0.83[JPT][hapmap]
rs7206039	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8048057	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs8048210	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs8060867	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs8061970	0.83[JPT][hapmap]
rs8203	0.87[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs918721	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs979789	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs9921270	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs9923264	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923336	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9925228	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs9930543	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9932415	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9933961	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9939455	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs9939471	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9939658	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9940142	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9940217	0.88[CEU][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71599400-71601800	Weak transcription	Esophagus	oesophagus
2	chr16:71599600-71600600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:71599600-71600600	Flanking Active TSS	GM12878-XiMat	blood
4	chr16:71599600-71600800	Enhancers	Liver	Liver
5	chr16:71599600-71602000	Weak transcription	Right Atrium	heart
6	chr16:71599600-71605600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:71599600-71607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:71599800-71600600	Enhancers	Fetal Intestine Large	intestine
9	chr16:71599800-71600600	Enhancers	Fetal Intestine Small	intestine
10	chr16:71599800-71600600	Enhancers	Fetal Lung	lung
11	chr16:71599800-71601800	Weak transcription	Lung	lung
12	chr16:71599800-71602400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:71600000-71600600	Enhancers	A549	lung
14	chr16:71600000-71600600	Enhancers	K562	blood
15	chr16:71600000-71600800	Enhancers	HepG2	liver
16	chr16:71600000-71601200	Enhancers	Primary B cells from peripheral blood	blood
17	chr16:71600200-71600600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr16:71600200-71602600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:71600400-71600600	Active TSS	Colonic Mucosa	Colon
20	chr16:71600400-71600800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr16:71600400-71601600	Enhancers	Primary B cells from cord blood	blood
22	chr16:71600400-71604000	Weak transcription	Rectal Mucosa Donor 29	rectum

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