Variant report

Variant	rs17883368
Chromosome Location	chr16:31106517-31106518
allele	A/C
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	MYBL2	chr16:31105875-31106565	HepG2	liver:	n/a	n/a
2	ZNF143	chr16:31105806-31106542	GM12878	blood:	n/a	chr16:31106330-31106348 chr16:31106291-31106310 chr16:31106326-31106341 chr16:31106296-31106314 chr16:31106305-31106314 chr16:31106325-31106344 chr16:31106303-31106312 chr16:31106292-31106307
3	ZNF143	chr16:31105845-31106911	K562	blood:	n/a	chr16:31106330-31106348 chr16:31106291-31106310 chr16:31106326-31106341 chr16:31106296-31106314 chr16:31106305-31106314 chr16:31106325-31106344 chr16:31106303-31106312 chr16:31106292-31106307
4	POLR2A	chr16:31103890-31106642	HepG2	liver:	n/a	n/a
5	HCFC1	chr16:31105791-31106538	K562	blood:	n/a	n/a
6	POLR2A	chr16:31105302-31106517	SK-N-MC	brain:	n/a	n/a
7	MYBL2	chr16:31105401-31106617	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:31105615-31106553	U87	brain:	n/a	n/a
9	FOXA2	chr16:31105998-31106593	A549	lung:	n/a	n/a
10	TBP	chr16:31105800-31106525	K562	blood:	n/a	n/a
11	E2F4	chr16:31105808-31106530	MCF10A-Er-Src	breast:	n/a	chr16:31106149-31106158
12	ZNF143	chr16:31105514-31106521	Hela-S3	cervix:	n/a	chr16:31106330-31106348 chr16:31106291-31106310 chr16:31106326-31106341 chr16:31106296-31106314 chr16:31106305-31106314 chr16:31106325-31106344 chr16:31106303-31106312 chr16:31106292-31106307
13	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
14	HCFC1	chr16:31105621-31106852	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr16:31105310-31107551	GM12878	blood:	n/a	chr16:31106099-31106111 chr16:31107279-31107292
16	YY1	chr16:31105334-31106554	HepG2	liver:	n/a	chr16:31105589-31105601
17	KAP1	chr16:31105512-31106543	HEK293	kidney:	n/a	n/a
18	SP1	chr16:31105652-31106574	A549	lung:	n/a	chr16:31105852-31105862
19	POLR2A	chr16:31105545-31106517	GM12892	blood:	n/a	n/a
20	TBP	chr16:31105882-31106529	Hela-S3	cervix:	n/a	n/a
21	SIX5	chr16:31105848-31106611	A549	lung:	n/a	chr16:31106305-31106314 chr16:31106303-31106312
22	ZNF143	chr16:31105455-31107449	H1-hESC	embryonic stem cell:	n/a	chr16:31106330-31106348 chr16:31106291-31106310 chr16:31106326-31106341 chr16:31106296-31106314 chr16:31106305-31106314 chr16:31106325-31106344 chr16:31106303-31106312 chr16:31106292-31106307

No.	Distal block	Cell Line	Cell type
1	chr16:31100541..31103210-chr16:31106275..31107775,2	K562	blood:
2	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
3	chr16:30996263..30999050-chr16:31104681..31107631,2	K562	blood:
4	chr16:31104440..31108567-chr16:31128079..31131886,5	MCF-7	breast:
5	chr16:31105856..31107685-chr16:31152830..31155240,2	MCF-7	breast:
6	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
7	chr16:30995366..30997763-chr16:31105871..31107631,3	K562	blood:
8	chr16:31104411..31107220-chr16:31127738..31130777,6	K562	blood:
9	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
10	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
11	chr16:31044055..31045706-chr16:31104803..31106842,2	K562	blood:
12	chr16:30995825..30999208-chr16:31104283..31108641,3	MCF-7	breast:
13	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
14	chr16:31104754..31107641-chr16:31225871..31228750,3	MCF-7	breast:
15	chr16:30993478..30998928-chr16:31103966..31108613,11	MCF-7	breast:
16	chr16:31043723..31046982-chr16:31104763..31108455,4	MCF-7	breast:
17	chr16:31098290..31102055-chr16:31103024..31106957,5	MCF-7	breast:
18	chr16:31104992..31108435-chr16:31119873..31122866,3	K562	blood:
19	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
20	chr16:30960242..30962054-chr16:31106031..31107586,2	K562	blood:
21	chr16:31004627..31008448-chr16:31105710..31107499,4	MCF-7	breast:
22	chr16:31105721..31106667-chr16:31153756..31154617,2	K562	blood:
23	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
24	chr16:31104528..31108651-chr16:31117626..31121071,4	MCF-7	breast:
25	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:
26	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:

Variant related genes	Relation type
VKORC1	TF binding region
ENSG00000255439	TF binding region
ENSG00000099377	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17882368	1.00[AMR][1000 genomes]
rs73530248	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	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	109 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31104600-31106600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:31104600-31106600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:31104800-31106800	Active TSS	HSMMtube	muscle
4	chr16:31105000-31106600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr16:31105000-31106600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:31105000-31106600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:31105000-31106600	Active TSS	Right Ventricle	heart
8	chr16:31105000-31106600	Active TSS	GM12878-XiMat	blood
9	chr16:31105000-31106600	Active TSS	Hela-S3	cervix
10	chr16:31105000-31106600	Active TSS	K562	blood
11	chr16:31105000-31106800	Active TSS	Brain Substantia Nigra	brain
12	chr16:31105000-31107000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:31105000-31107200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:31105200-31106600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr16:31105200-31106600	Active TSS	Fetal Kidney	kidney
16	chr16:31105200-31106600	Active TSS	Fetal Lung	lung
17	chr16:31105400-31106600	Active TSS	Fetal Stomach	stomach
18	chr16:31105400-31106600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr16:31105600-31106600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:31105600-31106600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr16:31105600-31106600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31105600-31106600	Active TSS	Fetal Intestine Large	intestine
23	chr16:31105600-31106600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr16:31105600-31106800	Active TSS	Brain Hippocampus Middle	brain
25	chr16:31105600-31107000	Active TSS	Rectal Smooth Muscle	rectum
26	chr16:31105600-31107200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:31105800-31106600	Active TSS	Primary T cells from cord blood	blood
28	chr16:31105800-31106600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:31105800-31106600	Active TSS	Colonic Mucosa	Colon
30	chr16:31105800-31106600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr16:31105800-31106600	Active TSS	Dnd41	blood
32	chr16:31105800-31106800	Active TSS	Brain Anterior Caudate	brain
33	chr16:31105800-31106800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr16:31105800-31106800	Active TSS	Stomach Smooth Muscle	stomach
35	chr16:31106000-31106600	Active TSS	Primary hematopoietic stem cells	blood
36	chr16:31106000-31106600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr16:31106000-31106600	Active TSS	Placenta	Placenta
38	chr16:31106000-31106600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr16:31106000-31106600	Weak transcription	Stomach Mucosa	stomach
40	chr16:31106000-31106600	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr16:31106200-31106600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr16:31106200-31106800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:31106200-31106800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:31106200-31107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:31106200-31107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:31106200-31107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:31106200-31107000	Weak transcription	HUVEC	blood vessel
48	chr16:31106200-31107000	Weak transcription	NHLF	lung
49	chr16:31106200-31107200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:31106200-31107200	Weak transcription	A549	lung

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