Variant report

Variant	rs59611355
Chromosome Location	chr16:31152364-31152365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31152141-31152649	HepG2	liver:	n/a	n/a
2	CEBPD	chr16:31151863-31152396	HepG2	liver:	n/a	n/a
3	HNF4G	chr16:31151398-31152401	HepG2	liver:	n/a	chr16:31152084-31152096 chr16:31152089-31152097 chr16:31152081-31152096
4	CEBPB	chr16:31152153-31152453	K562	blood:	n/a	chr16:31152301-31152312
5	ZEB1	chr16:31151432-31152434	HepG2	liver:	n/a	n/a
6	CEBPB	chr16:31152222-31152372	HepG2	liver:	n/a	chr16:31152301-31152312
7	CEBPB	chr16:31152132-31152462	HepG2	liver:	n/a	chr16:31152301-31152312
8	HDAC2	chr16:31151701-31152373	HepG2	liver:	n/a	n/a
9	MBD4	chr16:31151472-31152464	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:31152174-31152469	IMR90	lung:	n/a	chr16:31152301-31152312
11	MYBL2	chr16:31151463-31152378	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
2	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
3	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
4	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
5	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
6	chr16:30967863..30970213-chr16:31152160..31153690,2	K562	blood:
7	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
8	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
9	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
10	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
11	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
12	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
13	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
14	chr16:31041654..31043180-chr16:31152068..31153898,2	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000099381	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000178226	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2007636	1.00[AMR][1000 genomes]
rs56788559	1.00[AMR][1000 genomes]
rs56909237	1.00[AMR][1000 genomes]
rs56929325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318754	1.00[AMR][1000 genomes]
rs57473339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57759446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61976954	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200749	1.00[AMR][1000 genomes]
rs751117	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
5	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
8	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:31144000-31152800	Weak transcription	Ovary	ovary
11	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:31144200-31152400	Weak transcription	Dnd41	blood
13	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:31144600-31152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31144600-31152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:31144800-31152800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:31144800-31152800	Weak transcription	Thymus	Thymus
20	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:31145200-31152800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:31145800-31153000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:31146400-31153000	Weak transcription	Brain Substantia Nigra	brain
25	chr16:31147400-31152600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:31147400-31152800	Enhancers	Fetal Intestine Large	intestine
27	chr16:31147400-31154800	Enhancers	Placenta	Placenta
28	chr16:31147600-31152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:31147600-31153000	Weak transcription	Fetal Kidney	kidney
30	chr16:31148000-31153000	Weak transcription	Brain Germinal Matrix	brain
31	chr16:31149000-31152600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:31149000-31152800	Enhancers	Fetal Intestine Small	intestine
33	chr16:31149400-31153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:31149400-31153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:31149400-31154000	Enhancers	Pancreas	Pancrea
36	chr16:31149400-31154000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr16:31149800-31153200	Enhancers	Lung	lung
38	chr16:31150200-31152600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:31150400-31152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:31150400-31152600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:31150400-31152600	Weak transcription	Osteobl	bone
42	chr16:31150400-31152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:31150600-31152600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:31150600-31152600	Weak transcription	Fetal Thymus	thymus
45	chr16:31150600-31152600	Weak transcription	K562	blood
46	chr16:31150600-31152800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr16:31150600-31152800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:31150600-31152800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr16:31150600-31152800	Weak transcription	Right Atrium	heart
50	chr16:31150600-31152800	Enhancers	NHEK	skin

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