Variant report

Variant	rs74030548
Chromosome Location	chr16:81174764-81174765
allele	C/G
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	HEY1	chr16:81174572-81174891	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:81174582-81175295	HepG2	liver:	n/a	n/a
3	MAX	chr16:81174423-81175462	HepG2	liver:	n/a	n/a
4	MAX	chr16:81174496-81175415	MCF-7	breast:	n/a	n/a
5	NR3C1	chr16:81174635-81175435	A549	lung:	n/a	chr16:81175163-81175172
6	CHD2	chr16:81174697-81174833	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:81174664-81175277	HepG2	liver:	n/a	n/a
8	MAFK	chr16:81174729-81175356	HepG2	liver:	n/a	chr16:81175162-81175172 chr16:81175157-81175172 chr16:81175162-81175171
9	POLR2A	chr16:81174689-81174777	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr16:81174511-81175393	HepG2	liver:	n/a	n/a
11	MAX	chr16:81174660-81175307	HepG2	liver:	n/a	n/a
12	HDAC2	chr16:81174700-81175388	HepG2	liver:	n/a	n/a
13	BACH1	chr16:81174746-81175382	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR3C1	chr16:81174698-81175398	A549	lung:	n/a	chr16:81175163-81175172
15	CTCF	chr16:81174709-81175516	MCF-7	breast:	n/a	n/a
16	MAX	chr16:81174459-81175465	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PKD1L2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58498982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60847551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030552	0.92[AFR][1000 genomes];1.00[AMR][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:32 , 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	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
4	chr16:81167200-81181000	Enhancers	Placenta	Placenta
5	chr16:81170800-81174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:81171000-81176000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:81171200-81206400	Weak transcription	Ovary	ovary
9	chr16:81171400-81174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
11	chr16:81171600-81174800	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:81171600-81174800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
16	chr16:81173600-81176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:81173600-81177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:81174400-81175200	Flanking Active TSS	HepG2	liver
20	chr16:81174400-81175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:81174600-81175000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr16:81174600-81175200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:81174600-81175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:81174600-81175200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:81174600-81175200	Enhancers	Esophagus	oesophagus
26	chr16:81174600-81175400	Enhancers	Brain Substantia Nigra	brain
27	chr16:81174600-81175400	Strong transcription	Left Ventricle	heart
28	chr16:81174600-81175400	Enhancers	HMEC	breast
29	chr16:81174600-81175400	Enhancers	NHEK	skin
30	chr16:81174600-81175600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:81174600-81175600	Enhancers	A549	lung
32	chr16:81174600-81175800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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