Variant report

Variant	rs74015073
Chromosome Location	chr16:31161786-31161787
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	RFX5	chr16:31161563-31161973	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr16:31160737-31162089	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:31161763-31161963	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:31160815-31162077	Hela-S3	cervix:	n/a	n/a
5	JUND	chr16:31161565-31161926	HepG2	liver:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
6	CHD2	chr16:31161673-31162097	Hela-S3	cervix:	n/a	n/a
7	JUND	chr16:31161592-31161893	H1-hESC	embryonic stem cell:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
8	MAZ	chr16:31161368-31162034	Hela-S3	cervix:	n/a	chr16:31161742-31161751 chr16:31161743-31161752
9	JUND	chr16:31161602-31161807	HepG2	liver:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
10	POLR2A	chr16:31161710-31161925	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr16:31161557-31161980	HepG2	liver:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
12	TCF7L2	chr16:31161463-31162044	Hela-S3	cervix:	n/a	chr16:31161743-31161752 chr16:31161663-31161677
13	RAD21	chr16:31161673-31162035	Hela-S3	cervix:	n/a	n/a
14	GTF2F1	chr16:31161469-31161925	Hela-S3	cervix:	n/a	n/a
15	TFAP2C	chr16:31161047-31162070	Hela-S3	cervix:	n/a	n/a
16	MAX	chr16:31161622-31161980	Hela-S3	cervix:	n/a	chr16:31161742-31161751 chr16:31161743-31161752
17	MXI1	chr16:31161600-31162067	Hela-S3	cervix:	n/a	n/a
18	JUND	chr16:31161577-31161891	HepG2	liver:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
19	JUND	chr16:31161521-31161983	Hela-S3	cervix:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
20	SMC3	chr16:31161358-31162063	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr16:31161363-31162097	Hela-S3	cervix:	n/a	n/a
22	JUN	chr16:31161758-31161786	H1-hESC	embryonic stem cell:	n/a	n/a
23	HNF4A	chr16:31161525-31161823	HepG2	liver:	n/a	chr16:31161658-31161671 chr16:31161658-31161670 chr16:31161657-31161671 chr16:31161662-31161674
24	FOSL2	chr16:31161430-31161958	HepG2	liver:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751
25	JUND	chr16:31161567-31161921	K562	blood:	n/a	chr16:31161741-31161753 chr16:31161744-31161755 chr16:31161741-31161752 chr16:31161743-31161750 chr16:31161743-31161752 chr16:31161743-31161751

No.	Distal block	Cell Line	Cell type
1	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
2	chr16:31157660..31164019-chr16:31188659..31195219,17	MCF-7	breast:
3	chr16:30967872..30970200-chr16:31160526..31163254,2	K562	blood:
4	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
5	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
6	chr16:31007116..31008966-chr16:31160875..31162951,2	MCF-7	breast:
7	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
8	chr10:74033542..74034135-chr16:31161538..31162116,2	Hela-S3	cervix:

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000099381	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41371846	1.00[AMR][1000 genomes]
rs41520646	1.00[AMR][1000 genomes]
rs56751167	1.00[AMR][1000 genomes]
rs57483806	1.00[AMR][1000 genomes]
rs58114676	1.00[AMR][1000 genomes]
rs61417139	1.00[AMR][1000 genomes]
rs74015052	1.00[AMR][1000 genomes]
rs74015064	1.00[AMR][1000 genomes]
rs74015067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015088	1.00[AMR][1000 genomes]
rs74015098	1.00[AMR][1000 genomes]
rs74015100	1.00[AMR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 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	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
2	chr16:31154600-31161800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:31159600-31163800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:31160200-31162000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:31160200-31162000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:31160200-31162600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:31160200-31163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:31160200-31163800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr16:31160200-31163800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:31160400-31163000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:31160400-31163400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr16:31160600-31161800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:31160600-31162000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr16:31160600-31162000	Flanking Active TSS	Hela-S3	cervix
15	chr16:31160600-31163000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr16:31160800-31163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31161000-31162200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr16:31161200-31161800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:31161200-31162000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:31161200-31162000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:31161400-31161800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:31161400-31162000	Enhancers	Fetal Intestine Large	intestine
23	chr16:31161400-31162000	Enhancers	Fetal Intestine Small	intestine
24	chr16:31161400-31162000	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr16:31161600-31161800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr16:31161600-31161800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:31161600-31161800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr16:31161600-31161800	Enhancers	Brain Substantia Nigra	brain
29	chr16:31161600-31161800	Enhancers	Right Ventricle	heart
30	chr16:31161600-31162000	Enhancers	Spleen	Spleen
31	chr16:31161600-31162200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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