Variant report

Variant	rs35010194
Chromosome Location	chr16:77323769-77323770
allele	C/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	JUND	chr16:77323012-77323805	SK-N-SH	brain:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323554-77323564
2	ATF3	chr16:77323119-77323849	A549	lung:	n/a	n/a
3	RAD21	chr16:77323247-77323780	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr16:77323110-77323916	SK-N-SH	brain:	n/a	chr16:77323481-77323492 chr16:77323556-77323565
5	PBX3	chr16:77323061-77323874	SK-N-SH	brain:	n/a	n/a
6	EP300	chr16:77323020-77323885	A549	lung:	n/a	n/a
7	USF1	chr16:77323141-77323776	A549	lung:	n/a	n/a
8	FOXA2	chr16:77323160-77323780	A549	lung:	n/a	n/a
9	FOXA2	chr16:77323036-77323788	A549	lung:	n/a	n/a
10	MAX	chr16:77322896-77323832	A549	lung:	n/a	chr16:77323409-77323418
11	JUND	chr16:77323106-77323775	SK-N-SH	brain:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323554-77323564
12	POLR2A	chr16:77321697-77323916	U87	brain:	n/a	n/a
13	REST	chr16:77322884-77323818	A549	lung:	n/a	chr16:77323746-77323766
14	FOS	chr16:77323155-77323781	HUVEC	blood vessel:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323553-77323564 chr16:77323554-77323564
15	TCF12	chr16:77323166-77323806	A549	lung:	n/a	n/a
16	TEAD4	chr16:77323134-77323953	A549	lung:	n/a	n/a
17	NR3C1	chr16:77323084-77323831	A549	lung:	n/a	chr16:77323555-77323564 chr16:77323406-77323413
18	GATA3	chr16:77322909-77323994	A549	lung:	n/a	chr16:77323481-77323492 chr16:77323556-77323565
19	SP1	chr16:77322865-77323905	A549	lung:	n/a	n/a
20	NR3C1	chr16:77323182-77323813	A549	lung:	n/a	chr16:77323555-77323564 chr16:77323406-77323413
21	JUND	chr16:77323069-77323848	A549	lung:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323554-77323564
22	EP300	chr16:77323291-77323797	Hela-S3	cervix:	n/a	n/a
23	EP300	chr16:77322978-77323901	A549	lung:	n/a	n/a
24	PBX3	chr16:77322987-77323995	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr16:77323100-77323795	A549	lung:	n/a	n/a
26	TCF12	chr16:77322973-77324043	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr16:77322898-77323945	A549	lung:	n/a	n/a
28	NR3C1	chr16:77323138-77323787	A549	lung:	n/a	chr16:77323555-77323564 chr16:77323406-77323413
29	NR3C1	chr16:77323095-77323836	A549	lung:	n/a	chr16:77323555-77323564 chr16:77323406-77323413
30	MAX	chr16:77323038-77323769	A549	lung:	n/a	chr16:77323409-77323418
31	FOSL2	chr16:77323031-77323888	A549	lung:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323554-77323564
32	NFIC	chr16:77323057-77323876	SK-N-SH	brain:	n/a	n/a
33	USF1	chr16:77323067-77323782	A549	lung:	n/a	n/a
34	CEBPB	chr16:77323056-77323834	A549	lung:	n/a	n/a
35	EP300	chr16:77322960-77323850	SK-N-SH	brain:	n/a	n/a
36	RCOR1	chr16:77323239-77323809	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr16:77321703-77323910	U87	brain:	n/a	n/a
38	SP1	chr16:77322895-77323918	A549	lung:	n/a	n/a
39	GATA3	chr16:77322945-77324018	SK-N-SH	brain:	n/a	chr16:77323481-77323492 chr16:77323556-77323565
40	GABPA	chr16:77323102-77323771	A549	lung:	n/a	n/a
41	TCF12	chr16:77322987-77323946	SK-N-SH	brain:	n/a	n/a
42	FOSL2	chr16:77323007-77323788	SK-N-SH	brain:	n/a	chr16:77323554-77323564 chr16:77323554-77323564 chr16:77323554-77323564

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77318927..77321221-chr16:77323637..77325291,2	MCF-7	breast:

Variant related genes	Relation type
ADAMTS18	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1137647	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11641464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11643318	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11649209	0.81[EUR][1000 genomes]
rs12921064	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12929297	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17619850	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35478105	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743753	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888616	0.83[ASN][1000 genomes]
rs62044007	0.84[ASN][1000 genomes]
rs62044008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62044018	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055234	chr16:77003426-77467286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1062349	chr16:77039764-77458731	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv542967	chr16:77039764-77458731	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1066258	chr16:77229953-77521919	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv542968	chr16:77229953-77521919	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv934211	chr16:77281069-77396084	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1065714	chr16:77285659-77385518	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77311600-77344200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:77312000-77336600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:77317000-77329200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:77318800-77332400	Weak transcription	Ovary	ovary
5	chr16:77319800-77328800	Weak transcription	Brain Angular Gyrus	brain
6	chr16:77320800-77336200	Weak transcription	Brain Substantia Nigra	brain
7	chr16:77321000-77325000	Enhancers	HUVEC	blood vessel
8	chr16:77321200-77325000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:77321400-77325400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:77321400-77325600	Enhancers	NHDF-Ad	bronchial
11	chr16:77321600-77324000	Enhancers	HMEC	breast
12	chr16:77321600-77325200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:77321800-77323800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:77321800-77324800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:77321800-77324800	Enhancers	NH-A	brain
16	chr16:77321800-77325200	Enhancers	Osteobl	bone
17	chr16:77321800-77325400	Enhancers	HSMM	muscle
18	chr16:77322000-77324000	Flanking Active TSS	A549	lung
19	chr16:77322000-77324600	Enhancers	NHLF	lung
20	chr16:77322000-77325000	Enhancers	HSMMtube	muscle
21	chr16:77322800-77325200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:77323000-77323800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:77323000-77324400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:77323000-77324600	Enhancers	Fetal Stomach	stomach
25	chr16:77323200-77324600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:77323200-77324800	Enhancers	Fetal Lung	lung
27	chr16:77323400-77323800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:77323400-77323800	Enhancers	Adipose Nuclei	Adipose
29	chr16:77323400-77324600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr16:77323400-77331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:77323600-77323800	Flanking Active TSS	Hela-S3	cervix

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