Variant report

Variant	rs74030461
Chromosome Location	chr16:80841121-80841122
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	POLR2A	chr16:80840717-80841305	HUVEC	blood vessel:	n/a	n/a
2	STAT3	chr16:80840762-80841219	Hela-S3	cervix:	n/a	chr16:80840901-80840912
3	SMC3	chr16:80840769-80841128	Hela-S3	cervix:	n/a	n/a
4	GATA2	chr16:80840758-80841421	HUVEC	blood vessel:	n/a	n/a
5	JUN	chr16:80840412-80841457	HUVEC	blood vessel:	n/a	chr16:80841335-80841343
6	POLR2A	chr16:80840708-80841140	PFSK-1	brain:	n/a	n/a
7	MAX	chr16:80840522-80841292	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:80840430-80841278	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr16:80841068-80841171	HUVEC	blood vessel:	n/a	n/a
10	MEF2A	chr16:80840846-80841266	GM12878	blood:	n/a	chr16:80841057-80841071
11	POLR2A	chr16:80840239-80841531	HUVEC	blood vessel:	n/a	n/a
12	RAD21	chr16:80840793-80841147	Hela-S3	cervix:	n/a	n/a
13	GTF2F1	chr16:80840800-80841206	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr16:80840820-80841151	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr16:80840742-80841271	Hela-S3	cervix:	n/a	n/a
16	NFIC	chr16:80840823-80841336	GM12878	blood:	n/a	chr16:80841082-80841110
17	SRF	chr16:80840970-80841195	GM12878	blood:	n/a	n/a
18	FOS	chr16:80840762-80841188	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr16:80840418-80841224	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr16:80840421-80841451	Hela-S3	cervix:	n/a	n/a
21	EP300	chr16:80840761-80841220	Hela-S3	cervix:	n/a	chr16:80840824-80840838
22	RCOR1	chr16:80840828-80841275	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:80840658-80841268	Hela-S3	cervix:	n/a	n/a
24	RUNX3	chr16:80840809-80841243	GM12878	blood:	n/a	n/a
25	ELK1	chr16:80840860-80841532	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:80840733-80841213	Hela-S3	cervix:	n/a	n/a
27	USF2	chr16:80840615-80841230	Hela-S3	cervix:	n/a	chr16:80840698-80840709
28	FOS	chr16:80840770-80841155	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr16:80840788-80841128	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr16:80840659-80841284	HUVEC	blood vessel:	n/a	n/a
31	CEBPB	chr16:80840787-80841132	Hela-S3	cervix:	n/a	n/a
32	FOS	chr16:80840240-80841511	HUVEC	blood vessel:	n/a	chr16:80841335-80841343
33	TBP	chr16:80840687-80841166	Hela-S3	cervix:	n/a	n/a
34	NFYB	chr16:80840824-80841282	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr16:80840464-80841540	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80625101..80626775-chr16:80839502..80841949,2	MCF-7	breast:
2	chr16:80840133..80841799-chr16:80886002..80888240,2	K562	blood:

Variant related genes	Relation type
CDYL2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11150315	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11150316	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11643914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11865307	0.81[ASN][1000 genomes]
rs12443565	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444243	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444274	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12446476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12446987	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1544804	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547990	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34450250	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502201	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638446	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690046	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72820985	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74030456	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74030462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74030463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74030464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74030466	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74030467	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052178	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053834	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053858	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058727	0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv457560	chr16:80825206-80858143	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573302	chr16:80825206-80858143	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80839200-80841400	Weak transcription	Placenta	Placenta
2	chr16:80839200-80841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:80839200-80843400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:80840000-80841600	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:80840000-80842000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:80840200-80841200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:80840200-80841600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:80840400-80841200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr16:80840400-80841200	Enhancers	HSMM	muscle
10	chr16:80840400-80841200	Enhancers	NHDF-Ad	bronchial
11	chr16:80840400-80841400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:80840400-80841400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr16:80840400-80841400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:80840400-80841600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:80840400-80841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:80840400-80841800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:80840400-80842200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:80840400-80842600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:80840600-80841200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:80840800-80841200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:80840800-80841200	Enhancers	Primary T cells from cord blood	blood
22	chr16:80840800-80841200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:80841000-80841200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:80841000-80841200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:80841000-80841400	Enhancers	HUVEC	blood vessel
26	chr16:80841000-80841400	Enhancers	NH-A	brain
27	chr16:80841000-80841400	Enhancers	NHEK	skin
28	chr16:80841000-80841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:80841000-80845200	Enhancers	Hela-S3	cervix

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