Variant report

Variant	rs7187615
Chromosome Location	chr16:81254052-81254053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:81254037-81254309	K562	blood:	n/a	n/a
2	TRIM28	chr16:81254015-81254458	K562	blood:	n/a	n/a
3	TAL1	chr16:81254029-81254573	K562	blood:	n/a	n/a
4	RCOR1	chr16:81253938-81254400	K562	blood:	n/a	n/a
5	CEBPB	chr16:81254034-81254299	K562	blood:	n/a	n/a
6	ZNF384	chr16:81254030-81254215	K562	blood:	n/a	n/a
7	NR2F2	chr16:81254039-81254428	K562	blood:	n/a	n/a
8	YY1	chr16:81253762-81254262	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr16:81253929-81254606	K562	blood:	n/a	n/a
10	YY1	chr16:81253946-81254163	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:81253887-81254318	H1-neurons	neurons:	n/a	n/a
12	PML	chr16:81253964-81254529	K562	blood:	n/a	n/a
13	CEBPD	chr16:81253998-81254478	K562	blood:	n/a	n/a
14	EP300	chr16:81254045-81254619	K562	blood:	n/a	n/a
15	CCNT2	chr16:81254050-81254484	K562	blood:	n/a	n/a
16	CEBPD	chr16:81253954-81254421	K562	blood:	n/a	n/a
17	GATA1	chr16:81253505-81254587	K562	blood:	n/a	chr16:81254241-81254250 chr16:81254204-81254221
18	TEAD4	chr16:81253987-81254484	K562	blood:	n/a	n/a
19	STAT5A	chr16:81254023-81254513	K562	blood:	n/a	chr16:81254396-81254404

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81254051-81254101	AG09309	skin:	n/a
2	chr16:81254051-81254101	Jurkat	blood:	n/a
3	chr16:81254051-81254101	K562	blood:	n/a
4	chr16:81254010-81254060	HAEpiC	amniotic membrane:	n/a
5	chr16:81254010-81254060	HRE	kidney:	n/a
6	chr16:81254010-81254060	HEEpiC	esophagus:	n/a
7	chr16:81254051-81254101	HPAEpiC	pulmonary alveolar:	n/a
8	chr16:81254051-81254101	HEK293	kidney:	embryo
9	chr16:81254010-81254060	AoSMC	blood vessel:	n/a
10	chr16:81254051-81254101	HNPCEpiC	eye:	n/a
11	chr16:81254051-81254101	H1-hESC	embryonic stem cell:	embryo
12	chr16:81254010-81254060	MCF-7	breast:	n/a
13	chr16:81254010-81254060	PANC-1	pancreas:	n/a
14	chr16:81254051-81254101	AoSMC	blood vessel:	n/a
15	chr16:81254010-81254060	HMEC	breast:	n/a
16	chr16:81254051-81254101	NHDF-neo	bronchial:	n/a
17	chr16:81254051-81254101	MCF10A-Er-Src	breast:	n/a
18	chr16:81254010-81254060	AG04449	skin:	fetal
19	chr16:81254010-81254060	MCF10A-Er-Src	breast:	n/a
20	chr16:81254010-81254060	SK-N-MC	brain:	n/a
21	chr16:81254010-81254060	HRPEpiC	eye:	n/a
22	chr16:81254010-81254060	NHBE	bronchial:	n/a
23	chr16:81254010-81254060	ProgFib	skin:	n/a
24	chr16:81254010-81254060	RPTEC	kidney:	n/a
25	chr16:81254051-81254101	BJ	skin:	n/a
26	chr16:81254010-81254060	BE2_C	brain:	n/a
27	chr16:81254010-81254060	T-47D	breast:	n/a
28	chr16:81254010-81254060	GM12878	blood:	n/a
29	chr16:81254051-81254101	HCPEpiC	choroid plexus:	n/a
30	chr16:81254010-81254060	HNPCEpiC	eye:	n/a
31	chr16:81254051-81254101	IMR90	lung:	fetal
32	chr16:81254010-81254060	SAEC	small airway:	n/a
33	chr16:81254010-81254060	Hepatocyte	liver:	n/a
34	chr16:81254051-81254101	SAEC	small airway:	n/a
35	chr16:81254010-81254060	HepG2	liver:	n/a
36	chr16:81254051-81254101	HL-60	blood:	n/a
37	chr16:81254051-81254101	Hepatocyte	liver:	n/a
38	chr16:81254051-81254101	GM12892	blood:	n/a
39	chr16:81254051-81254101	Caco-2	colon:	n/a
40	chr16:81254051-81254101	NHBE	bronchial:	n/a
41	chr16:81254010-81254060	HIPEpiC	eye:	n/a
42	chr16:81254010-81254060	AG09309	skin:	n/a
43	chr16:81254051-81254101	HepG2	liver:	n/a
44	chr16:81254010-81254060	HCPEpiC	choroid plexus:	n/a
45	chr16:81254010-81254060	GM19239	blood:	n/a
46	chr16:81254010-81254060	GM12892	blood:	n/a
47	chr16:81254051-81254101	GM12891	blood:	n/a
48	chr16:81254010-81254060	HEK293	kidney:	embryo
49	chr16:81254051-81254101	AG04450	lung:	fetal
50	chr16:81254051-81254101	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
PKD1L2	TF binding region
PKD1L2	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11150372	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641342	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641417	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11643509	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644158	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11644611	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645428	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648145	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445378	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445710	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28380273	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34421340	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615776	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889282	1.00[ASN][1000 genomes]
rs4889288	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56053403	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56107476	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56240662	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56291739	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56353925	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56389890	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56389940	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58849424	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60964115	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61227863	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62052456	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62052458	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054660	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054661	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054662	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054666	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054669	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62054670	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62054671	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7185774	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186423	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831363	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831366	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831372	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831377	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831381	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831390	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1064742	chr16:81172662-81266841	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv431520	chr16:81172699-81258899	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv457570	chr16:81173030-81264597	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv573348	chr16:81173030-81264597	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv1056584	chr16:81177693-81266841	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1059877	chr16:81178596-81266841	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1064021	chr16:81181006-81266841	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv521055	chr16:81181423-81264597	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv916050	chr16:81187125-81262282	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv907009	chr16:81190790-81262516	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	nsv1064222	chr16:81198147-81258896	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	nsv457572	chr16:81198147-81258896	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	nsv573353	chr16:81198147-81258896	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv457573	chr16:81204081-81294893	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	nsv573354	chr16:81204081-81294893	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	nsv1057230	chr16:81204423-81299509	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
24	nsv1067235	chr16:81204423-81303759	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
25	nsv1063482	chr16:81207377-81303759	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
26	nsv1064529	chr16:81223243-81303759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
27	esv2830030	chr16:81238818-81303759	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
28	nsv1061931	chr16:81247114-81273163	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
29	nsv1058690	chr16:81247114-81280613	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
30	esv2761924	chr16:81251795-81258896	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81249000-81257200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81253600-81254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:81253600-81254200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr16:81253600-81254800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:81253800-81254200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81253800-81254200	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr16:81253800-81254400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr16:81253800-81254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:81254000-81254600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:81254000-81254800	Flanking Active TSS	K562	blood

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