Variant report

Variant	rs34207532
Chromosome Location	chr16:81175161-81175162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr16:81174878-81175280	A549	lung:	n/a	n/a
2	MAX	chr16:81174949-81175267	K562	blood:	n/a	n/a
3	CTCF	chr16:81175075-81175348	MCF-7	breast:	n/a	n/a
4	RFX5	chr16:81174960-81175232	HepG2	liver:	n/a	n/a
5	JUND	chr16:81174981-81175323	HepG2	liver:	n/a	chr16:81175162-81175174 chr16:81175162-81175173 chr16:81175164-81175172
6	CTCF	chr16:81175160-81175310	GM12872	blood:	n/a	n/a
7	CTCF	chr16:81175100-81175250	HCT-116	colon:	n/a	n/a
8	HEY1	chr16:81174866-81175297	HepG2	liver:	n/a	n/a
9	CTCF	chr16:81175100-81175250	GM12870	blood:	n/a	n/a
10	TAF1	chr16:81174931-81175258	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr16:81174880-81175333	A549	lung:	n/a	n/a
12	CTCF	chr16:81175140-81175290	SAEC	small airway:	n/a	n/a
13	POLR2A	chr16:81174960-81175258	HepG2	liver:	n/a	n/a
14	CTCF	chr16:81175120-81175270	HCT-116	colon:	n/a	n/a
15	CTCF	chr16:81175160-81175310	GM12878	blood:	n/a	n/a
16	NRF1	chr16:81175145-81175325	K562	blood:	n/a	chr16:81175217-81175228
17	CTCF	chr16:81175110-81175324	GM12878	blood:	n/a	n/a
18	RAD21	chr16:81175030-81175387	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:81175120-81175270	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr16:81175120-81175270	WERI-Rb-1	eye:	n/a	n/a
21	RAD21	chr16:81174915-81175354	HepG2	liver:	n/a	n/a
22	CTCF	chr16:81175100-81175250	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr16:81175140-81175290	AG09309	skin:	n/a	n/a
24	CTCF	chr16:81175160-81175310	HRE	kidney:	n/a	n/a
25	MAFK	chr16:81175011-81175339	K562	blood:	n/a	chr16:81175162-81175172 chr16:81175157-81175172 chr16:81175162-81175171
26	POLR2A	chr16:81174582-81175295	HepG2	liver:	n/a	n/a
27	MAX	chr16:81174423-81175462	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:81174884-81175217	HepG2	liver:	n/a	n/a
29	CTCF	chr16:81175100-81175250	HMF	breast:	n/a	n/a
30	MAX	chr16:81174880-81175420	K562	blood:	n/a	n/a
31	CTCF	chr16:81175160-81175310	NHEK	skin:	n/a	n/a
32	CTCF	chr16:81175150-81175262	GM10248	blood:	n/a	n/a
33	CTCF	chr16:81175160-81175310	GM12864	blood:	n/a	n/a
34	CTCF	chr16:81175120-81175270	HEK293	kidney:	n/a	n/a
35	CBX3	chr16:81174969-81175313	K562	blood:	n/a	n/a
36	CTCF	chr16:81175080-81175230	RPTEC	kidney:	n/a	n/a
37	CTCF	chr16:81175100-81175250	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr16:81175080-81175230	GM12866	blood:	n/a	n/a
39	RAD21	chr16:81174993-81175366	HepG2	liver:	n/a	n/a
40	CTCF	chr16:81175140-81175290	HEK293	kidney:	n/a	n/a
41	NR3C1	chr16:81174850-81175279	A549	lung:	n/a	chr16:81175163-81175172
42	CTCF	chr16:81175140-81175290	GM12865	blood:	n/a	n/a
43	MYC	chr16:81175140-81175165	HepG2	liver:	n/a	n/a
44	MAX	chr16:81174496-81175415	MCF-7	breast:	n/a	n/a
45	CTCF	chr16:81175080-81175230	AG09319	gingival:	n/a	n/a
46	CTCF	chr16:81175100-81175250	GM12872	blood:	n/a	n/a
47	CTCF	chr16:81175148-81175308	GM13977	blood:	n/a	n/a
48	FOXA2	chr16:81175017-81175369	HepG2	liver:	n/a	n/a
49	CTCF	chr16:81175136-81175306	Fibrobl	skin:	n/a	n/a
50	NR3C1	chr16:81174635-81175435	A549	lung:	n/a	chr16:81175163-81175172

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000166473	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12920477	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12920484	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1979193	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34242559	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35424543	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35769936	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35941327	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788414	0.81[EUR][1000 genomes]
rs56895837	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	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
6	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv907007	chr16:81157521-81181423	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv978328	chr16:81166830-81197232	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv960376	chr16:81170217-81214783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv827774	chr16:81170888-81177788	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3436709	chr16:81171951-81176149	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	esv3393614	chr16:81173201-81175399	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
3	chr16:81167200-81181000	Enhancers	Placenta	Placenta
4	chr16:81171000-81176000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:81171200-81206400	Weak transcription	Ovary	ovary
7	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
8	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
11	chr16:81173600-81176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:81173600-81177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:81174400-81175200	Flanking Active TSS	HepG2	liver
15	chr16:81174400-81175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:81174600-81175200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:81174600-81175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:81174600-81175200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:81174600-81175200	Enhancers	Esophagus	oesophagus
20	chr16:81174600-81175400	Enhancers	Brain Substantia Nigra	brain
21	chr16:81174600-81175400	Strong transcription	Left Ventricle	heart
22	chr16:81174600-81175400	Enhancers	HMEC	breast
23	chr16:81174600-81175400	Enhancers	NHEK	skin
24	chr16:81174600-81175600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:81174600-81175600	Enhancers	A549	lung
26	chr16:81174600-81175800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:81174800-81175200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:81174800-81175200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81174800-81175200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:81174800-81175200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:81174800-81175200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr16:81174800-81175400	Enhancers	Brain Hippocampus Middle	brain
33	chr16:81175000-81175400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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