Variant report

Variant	rs17878259
Chromosome Location	chr16:31106643-31106644
allele	C/T
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	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
2	CTCF	chr16:31106580-31106730	K562	blood:	n/a	n/a
3	CTCF	chr16:31106611-31107556	A549	lung:	n/a	n/a
4	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
5	HCFC1	chr16:31105621-31106852	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr16:31105310-31107551	GM12878	blood:	n/a	chr16:31106099-31106111 chr16:31107279-31107292
7	CTCF	chr16:31106600-31106750	GM12873	blood:	n/a	n/a
8	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
ENSG00000252809	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000175938	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34107331	1.00[AFR][1000 genomes]
rs34259949	1.00[AFR][1000 genomes]
rs34831291	1.00[AFR][1000 genomes]
rs34889904	1.00[AFR][1000 genomes]
rs55886037	0.82[AFR][1000 genomes]
rs56196402	1.00[AFR][1000 genomes]
rs59076556	1.00[AFR][1000 genomes]
rs61237574	0.82[AFR][1000 genomes]
rs74015066	0.91[AFR][1000 genomes]
rs74015068	0.82[AFR][1000 genomes]
rs74015069	0.82[AFR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31104800-31106800	Active TSS	HSMMtube	muscle
2	chr16:31105000-31106800	Active TSS	Brain Substantia Nigra	brain
3	chr16:31105000-31107000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:31105000-31107200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:31105600-31106800	Active TSS	Brain Hippocampus Middle	brain
6	chr16:31105600-31107000	Active TSS	Rectal Smooth Muscle	rectum
7	chr16:31105600-31107200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr16:31105800-31106800	Active TSS	Brain Anterior Caudate	brain
9	chr16:31105800-31106800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:31105800-31106800	Active TSS	Stomach Smooth Muscle	stomach
11	chr16:31106200-31106800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:31106200-31106800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:31106200-31107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:31106200-31107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:31106200-31107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:31106200-31107000	Weak transcription	HUVEC	blood vessel
17	chr16:31106200-31107000	Weak transcription	NHLF	lung
18	chr16:31106200-31107200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:31106200-31107200	Weak transcription	A549	lung
20	chr16:31106400-31106800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr16:31106400-31106800	Enhancers	Liver	Liver
22	chr16:31106400-31106800	Weak transcription	Colon Smooth Muscle	Colon
23	chr16:31106400-31106800	Weak transcription	Right Atrium	heart
24	chr16:31106400-31106800	Enhancers	NHDF-Ad	bronchial
25	chr16:31106400-31107000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:31106400-31107000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:31106400-31107000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:31106400-31107000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr16:31106400-31107000	Weak transcription	Esophagus	oesophagus
30	chr16:31106400-31107000	Weak transcription	Pancreas	Pancrea
31	chr16:31106400-31107200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr16:31106400-31107200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr16:31106400-31107200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:31106400-31107200	Enhancers	Spleen	Spleen
35	chr16:31106400-31107400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:31106400-31107400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:31106400-31107400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:31106400-31107400	Enhancers	Primary B cells from cord blood	blood
39	chr16:31106400-31107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:31106400-31107400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:31106400-31107400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:31106400-31107400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr16:31106400-31107400	Enhancers	Fetal Thymus	thymus
44	chr16:31106400-31107800	Enhancers	Primary B cells from peripheral blood	blood
45	chr16:31106400-31107800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr16:31106400-31107800	Enhancers	HepG2	liver
47	chr16:31106400-31108000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:31106600-31106800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr16:31106600-31106800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr16:31106600-31106800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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