Variant report

Variant	rs2008774
Chromosome Location	chr16:31721493-31721494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:31721241-31722060	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31718748-31725396	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31721040-31725468	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:31721095-31721512	GM12892	blood:	n/a	n/a
5	POLR2A	chr16:31721433-31721564	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:31721480-31723978	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:31721173-31721909	GM12891	blood:	n/a	n/a
8	POLR2A	chr16:31721289-31721839	K562	blood:	n/a	n/a
9	POLR2A	chr16:31721427-31725398	K562	blood:	n/a	n/a
10	POLR2A	chr16:31721142-31721702	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:31721196-31725172	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:31718943-31727784	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:31721128-31721560	GM12892	blood:	n/a	n/a
14	POLR2A	chr16:31715130-31726933	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:31721113-31721675	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31718974-31728173	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:31721150-31721852	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31512832..31514586-chr16:31721396..31723098,2	MCF-7	breast:
2	chr16:31518291..31520186-chr16:31719579..31721600,2	MCF-7	breast:
3	chr16:31467317..31473648-chr16:31720179..31727010,13	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF720	TF binding region
ENSG00000140691	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260267	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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1073513	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1104549	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1104550	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150632	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11150639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11642525	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11643629	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12325485	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12386038	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12921028	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12932938	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1304163	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1358485	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1406178	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468158	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1468159	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1528317	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1534506	0.86[EUR][1000 genomes]
rs1599855	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1609289	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1852667	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1881317	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1881318	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1919039	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2078923	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2091521	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2097683	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2106580	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141349	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2157969	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2188620	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2214139	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2359220	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359223	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2359228	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359231	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3088127	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34632985	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751738	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3751742	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3937426	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4297693	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4499253	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4572414	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4632148	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889679	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889680	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4889687	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565266	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6565270	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6565271	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6565277	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6565284	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7187074	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7188748	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7192274	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7192670	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7195700	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197470	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197963	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7198038	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7359491	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7498390	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8043927	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8048027	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8048741	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8052434	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8054649	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929209	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9928595	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929259	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9939255	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31712600-31724200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:31712600-31724200	Weak transcription	Psoas Muscle	Psoas
3	chr16:31712600-31724200	Weak transcription	HSMM	muscle
4	chr16:31712800-31724200	Weak transcription	HSMMtube	muscle
5	chr16:31712800-31724200	Weak transcription	NHDF-Ad	bronchial
6	chr16:31712800-31724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:31712800-31724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:31713000-31724400	Weak transcription	Right Atrium	heart
9	chr16:31713200-31724000	Weak transcription	Fetal Heart	heart
10	chr16:31713200-31724200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:31713400-31722400	Strong transcription	Fetal Intestine Small	intestine
12	chr16:31713400-31724000	Weak transcription	K562	blood
13	chr16:31713400-31724200	Weak transcription	Fetal Brain Male	brain
14	chr16:31713600-31722200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr16:31713800-31721600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:31713800-31721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:31713800-31722200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:31713800-31722600	Strong transcription	Fetal Stomach	stomach
19	chr16:31714000-31721800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:31714000-31722800	Strong transcription	Fetal Brain Female	brain
21	chr16:31714200-31721600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr16:31714200-31721600	Strong transcription	Fetal Intestine Large	intestine
23	chr16:31714200-31721800	Strong transcription	Liver	Liver
24	chr16:31714200-31721800	Strong transcription	GM12878-XiMat	blood
25	chr16:31714200-31722200	Strong transcription	Right Ventricle	heart
26	chr16:31714200-31722400	Strong transcription	Brain Germinal Matrix	brain
27	chr16:31714600-31721600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:31714600-31724200	Weak transcription	Fetal Kidney	kidney
29	chr16:31715800-31724200	Weak transcription	NHLF	lung
30	chr16:31716200-31724200	Weak transcription	Hela-S3	cervix
31	chr16:31717200-31723400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:31718000-31724200	Weak transcription	Stomach Mucosa	stomach
33	chr16:31718200-31724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:31718200-31724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:31718600-31724000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31718600-31724200	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:31719000-31724400	Weak transcription	Osteobl	bone
38	chr16:31719200-31724600	Weak transcription	Small Intestine	intestine
39	chr16:31719400-31724000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:31719600-31724400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:31719800-31721800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:31719800-31724000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:31719800-31724000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:31719800-31724000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr16:31719800-31724200	Weak transcription	Primary B cells from cord blood	blood
46	chr16:31719800-31724200	Weak transcription	Brain Angular Gyrus	brain
47	chr16:31719800-31724200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:31719800-31724200	Weak transcription	A549	lung
49	chr16:31720000-31721800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:31720000-31723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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