Variant report

Variant	rs8053474
Chromosome Location	chr16:31152953-31152954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31152938-31153164	HCT-116	colon:	n/a	n/a
2	ZBTB7A	chr16:31152766-31153010	K562	blood:	n/a	n/a
3	MAX	chr16:31152938-31154207	Hela-S3	cervix:	n/a	n/a
4	USF2	chr16:31152842-31153375	HepG2	liver:	n/a	n/a
5	MAZ	chr16:31152704-31154507	IMR90	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
6	MAX	chr16:31152801-31154476	K562	blood:	n/a	chr16:31154353-31154362 chr16:31154335-31154344
7	MYBL2	chr16:31152721-31154160	HepG2	liver:	n/a	n/a
8	MXI1	chr16:31152890-31154498	SK-N-SH	brain:	n/a	chr16:31154354-31154363
9	POLR2A	chr16:31152815-31153596	HepG2	liver:	n/a	n/a
10	SMC3	chr16:31152940-31154788	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr16:31152937-31154359	SK-N-SH	brain:	n/a	n/a
12	HCFC1	chr16:31152942-31154449	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr16:31152857-31154392	GM12878	blood:	n/a	chr16:31154028-31154040
14	MXI1	chr16:31152844-31154612	IMR90	lung:	n/a	chr16:31154354-31154363
15	POLR2A	chr16:31152911-31153680	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31152772-31154271	HepG2	liver:	n/a	n/a
17	HEY1	chr16:31152736-31154222	HepG2	liver:	n/a	n/a
18	MAX	chr16:31152664-31154579	HepG2	liver:	n/a	chr16:31154353-31154362 chr16:31154335-31154344 chr16:31154562-31154572
19	MAX	chr16:31152938-31154245	HCT-116	colon:	n/a	n/a
20	MAX	chr16:31152859-31154677	A549	lung:	n/a	chr16:31154353-31154362 chr16:31154335-31154344 chr16:31154562-31154572
21	POLR2A	chr16:31152727-31154143	SK-N-MC	brain:	n/a	n/a
22	USF1	chr16:31152918-31153283	K562	blood:	n/a	chr16:31153140-31153151
23	JUN	chr16:31152782-31154543	K562	blood:	n/a	n/a
24	MAZ	chr16:31152915-31154141	Hela-S3	cervix:	n/a	n/a
25	SMARCB1	chr16:31152869-31154709	Hela-S3	cervix:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31152927..31156733-chr16:31157447..31161176,6	MCF-7	breast:
2	chr16:30968166..30970668-chr16:31152878..31154603,2	MCF-7	breast:
3	chr16:31105856..31107685-chr16:31152830..31155240,2	MCF-7	breast:
4	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
5	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
6	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
7	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
8	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
9	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
10	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
11	chr16:30967863..30970213-chr16:31152160..31153690,2	K562	blood:
12	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
13	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
14	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
15	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
16	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
17	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
18	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
19	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
20	chr16:31041654..31043180-chr16:31152068..31153898,2	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000175938	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000140691	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13337470	1.00[AFR][1000 genomes]
rs28566553	1.00[AFR][1000 genomes]
rs59532700	0.82[AFR][1000 genomes]
rs9889109	0.82[AFR][1000 genomes]
rs9924048	0.84[AFR][1000 genomes]
rs9924515	0.82[AFR][1000 genomes]
rs9925820	0.82[AFR][1000 genomes]
rs9932671	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3341967	chr16:31152676-31155224	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 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	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
7	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:31145800-31153000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:31146400-31153000	Weak transcription	Brain Substantia Nigra	brain
17	chr16:31147400-31154800	Enhancers	Placenta	Placenta
18	chr16:31147600-31153000	Weak transcription	Fetal Kidney	kidney
19	chr16:31148000-31153000	Weak transcription	Brain Germinal Matrix	brain
20	chr16:31149400-31153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:31149400-31153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:31149400-31154000	Enhancers	Pancreas	Pancrea
23	chr16:31149400-31154000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr16:31149800-31153200	Enhancers	Lung	lung
25	chr16:31150600-31153000	Weak transcription	Aorta	Aorta
26	chr16:31150600-31153000	Enhancers	Right Ventricle	heart
27	chr16:31150600-31153000	Weak transcription	HSMM	muscle
28	chr16:31150600-31153000	Weak transcription	HSMMtube	muscle
29	chr16:31150800-31153400	Enhancers	Stomach Mucosa	stomach
30	chr16:31151000-31153200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:31151000-31154000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:31151400-31153600	Enhancers	Left Ventricle	heart
33	chr16:31151400-31153800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:31151400-31154000	Enhancers	Spleen	Spleen
35	chr16:31151400-31154600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr16:31151600-31153000	Enhancers	Liver	Liver
37	chr16:31151600-31153200	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr16:31151800-31153200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr16:31152000-31153000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:31152000-31153000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr16:31152000-31153000	Enhancers	Colon Smooth Muscle	Colon
42	chr16:31152000-31153000	Enhancers	NHDF-Ad	bronchial
43	chr16:31152000-31153800	Enhancers	Gastric	stomach
44	chr16:31152000-31154600	Enhancers	Fetal Heart	heart
45	chr16:31152600-31153000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr16:31152600-31153000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:31152600-31153000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr16:31152600-31153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:31152600-31153000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:31152600-31153000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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