Variant report

Variant	rs62043630
Chromosome Location	chr16:77469711-77469712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr16:77469629-77469801	HepG2	liver:	n/a	n/a
2	GATA3	chr16:77469291-77469973	MCF-7	breast:	n/a	chr16:77469849-77469859
3	HDAC2	chr16:77469346-77469860	MCF-7	breast:	n/a	chr16:77469846-77469860
4	NR2F2	chr16:77469356-77469930	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr16:77469529-77469878	MCF-7	breast:	n/a	chr16:77469734-77469743 chr16:77469732-77469746 chr16:77469731-77469747 chr16:77469735-77469745 chr16:77469732-77469746 chr16:77469731-77469747

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:77469667-77469717	PANC-1	pancreas:	n/a
2	chr16:77469667-77469717	IMR90	lung:	fetal
3	chr16:77469710-77469760	SAEC	small airway:	n/a
4	chr16:77469667-77469717	A549	lung:	n/a
5	chr16:77469710-77469760	SK-N-SH	brain:	n/a
6	chr16:77469667-77469717	HPAEpiC	pulmonary alveolar:	n/a
7	chr16:77469667-77469717	HRPEpiC	eye:	n/a
8	chr16:77469710-77469760	HMEC	breast:	n/a
9	chr16:77469667-77469717	HEEpiC	esophagus:	n/a
10	chr16:77469667-77469717	NHBE	bronchial:	n/a
11	chr16:77469710-77469760	A549	lung:	n/a
12	chr16:77469710-77469760	HUVEC	blood vessel:	n/a
13	chr16:77469710-77469760	PANC-1	pancreas:	n/a
14	chr16:77469667-77469717	Jurkat	blood:	n/a
15	chr16:77469710-77469760	ProgFib	skin:	n/a
16	chr16:77469667-77469717	Hela-S3	cervix:	n/a
17	chr16:77469667-77469717	NHDF-neo	bronchial:	n/a
18	chr16:77469710-77469760	NH-A	brain:	n/a
19	chr16:77469667-77469717	HEK293	kidney:	embryo
20	chr16:77469710-77469760	HEK293	kidney:	embryo
21	chr16:77469710-77469760	GM12878	blood:	n/a
22	chr16:77469710-77469760	Hela-S3	cervix:	n/a
23	chr16:77469667-77469717	HAEpiC	amniotic membrane:	n/a
24	chr16:77469710-77469760	HNPCEpiC	eye:	n/a
25	chr16:77469667-77469717	Hepatocyte	liver:	n/a
26	chr16:77469710-77469760	HEEpiC	esophagus:	n/a
27	chr16:77469710-77469760	RPTEC	kidney:	n/a
28	chr16:77469667-77469717	GM06990	blood:	n/a
29	chr16:77469710-77469760	HAEpiC	amniotic membrane:	n/a
30	chr16:77469667-77469717	PFSK-1	brain:	n/a
31	chr16:77469667-77469717	SKMC	muscle:	n/a
32	chr16:77469710-77469760	K562	blood:	n/a
33	chr16:77469710-77469760	MCF-7	breast:	n/a
34	chr16:77469667-77469717	K562	blood:	n/a
35	chr16:77469667-77469717	HUVEC	blood vessel:	n/a
36	chr16:77469710-77469760	SK-N-MC	brain:	n/a
37	chr16:77469710-77469760	Jurkat	blood:	n/a
38	chr16:77469667-77469717	SAEC	small airway:	n/a
39	chr16:77469710-77469760	NHBE	bronchial:	n/a
40	chr16:77469667-77469717	AG04450	lung:	fetal
41	chr16:77469710-77469760	Caco-2	colon:	n/a
42	chr16:77469710-77469760	HCPEpiC	choroid plexus:	n/a
43	chr16:77469710-77469760	U87	brain:	n/a
44	chr16:77469667-77469717	GM12892	blood:	n/a
45	chr16:77469667-77469717	RPTEC	kidney:	n/a
46	chr16:77469710-77469760	HRE	kidney:	n/a
47	chr16:77469710-77469760	HL-60	blood:	n/a
48	chr16:77469667-77469717	BE2_C	brain:	n/a
49	chr16:77469667-77469717	LNCaP	prostate:	n/a
50	chr16:77469667-77469717	NH-A	brain:	n/a

No data

Variant related genes	Relation type
ADAMTS18	TF binding region
ADAMTS18	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1038951	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12917727	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12918077	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12922339	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12924735	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12930649	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12932270	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12935604	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366546	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1565780	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565781	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1565782	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1565783	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17621339	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17688919	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34108471	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34945639	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488026	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559328	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35623886	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35878720	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3921741	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4887908	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888632	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4888634	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62043624	0.81[AMR][1000 genomes]
rs62043625	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62046461	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046468	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62046469	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62046470	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7184361	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7184738	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv906957	chr16:77457066-77643421	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv3361728	chr16:77467476-77470324	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77467800-77469800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:77467800-77469800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:77468000-77469800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:77468000-77470000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr16:77468200-77469800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr16:77468200-77469800	Bivalent Enhancer	Fetal Stomach	stomach
7	chr16:77469200-77469800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr16:77469200-77470000	Bivalent Enhancer	Fetal Lung	lung
9	chr16:77469400-77469800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:77469400-77469800	Active TSS	Adipose Nuclei	Adipose
11	chr16:77469400-77469800	Enhancers	Brain Substantia Nigra	brain
12	chr16:77469400-77469800	Enhancers	HUVEC	blood vessel
13	chr16:77469600-77469800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:77469600-77469800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr16:77469600-77469800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:77469600-77469800	Bivalent Enhancer	HepG2	liver
17	chr16:77469600-77470600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr16:77469600-77476800	Weak transcription	Brain Cingulate Gyrus	brain

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