Variant report

Variant	rs72547529
Chromosome Location	chr16:31104720-31104721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:31104602-31104809	HepG2	liver:	n/a	n/a
2	HNF4A	chr16:31104652-31104996	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31104196-31104857	U87	brain:	n/a	n/a
4	POLR2A	chr16:31104498-31104882	H1-neurons	neurons:	n/a	n/a
5	HNF4G	chr16:31104609-31105171	HepG2	liver:	n/a	n/a
6	HEY1	chr16:31104512-31105139	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:31104562-31104840	HepG2	liver:	n/a	n/a
8	MAX	chr16:31104585-31104928	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:31103890-31106642	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr16:31104647-31104924	HepG2	liver:	n/a	n/a
11	HNF4A	chr16:31104716-31104980	HepG2	liver:	n/a	n/a
12	IRF1	chr16:31104442-31104910	K562	blood:	n/a	n/a
13	MXI1	chr16:31104381-31105003	HepG2	liver:	n/a	n/a
14	POLR2A	chr16:31104168-31105054	U87	brain:	n/a	n/a
15	POLR2A	chr16:31104596-31104850	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:31104523-31104865	PFSK-1	brain:	n/a	n/a
17	MAZ	chr16:31104405-31104919	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:31104593-31104802	HepG2	liver:	n/a	n/a
19	SIN3A	chr16:31104436-31105014	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:31104718-31104990	HepG2	liver:	n/a	n/a
21	POLR2A	chr16:31104590-31104857	U87	brain:	n/a	n/a
22	POLR2A	chr16:31104602-31105066	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:31104686-31104799	MCF-7	breast:	n/a	n/a
24	MAZ	chr16:31104396-31104754	K562	blood:	n/a	n/a
25	RCOR1	chr16:31104425-31104824	K562	blood:	n/a	n/a
26	MYC	chr16:31104661-31104861	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
28	MYC	chr16:31104705-31104869	K562	blood:	n/a	n/a
29	E2F6	chr16:31104648-31104771	K562	blood:	n/a	n/a
30	TBP	chr16:31104665-31104833	HepG2	liver:	n/a	n/a
31	HNF4G	chr16:31104640-31105006	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr16:31104337-31104844	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr16:31104487-31104856	K562	blood:	n/a	n/a
34	POLR2A	chr16:31104425-31104886	HCT-116	colon:	n/a	n/a
35	RCOR1	chr16:31104630-31105004	HepG2	liver:	n/a	n/a
36	MYC	chr16:31104592-31104770	HepG2	liver:	n/a	n/a
37	ELF1	chr16:31104529-31104990	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:31103479-31105091	U87	brain:	n/a	n/a
39	POLR2A	chr16:31104588-31104806	HCT-116	colon:	n/a	n/a
40	CHD2	chr16:31104664-31104849	HepG2	liver:	n/a	n/a
41	MXI1	chr16:31104145-31106481	SK-N-SH	brain:	n/a	n/a
42	ZNF263	chr16:31104339-31104868	HEK293-T-REx	kidney:	n/a	n/a
43	MXI1	chr16:31104636-31104723	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:31104525-31105074	HepG2	liver:	n/a	n/a
45	EP300	chr16:31104691-31104941	HepG2	liver:	n/a	n/a
46	MAZ	chr16:31104644-31104730	GM12878	blood:	n/a	n/a
47	MAX	chr16:31104595-31104829	K562	blood:	n/a	n/a
48	POLR2A	chr16:31104526-31105055	HepG2	liver:	n/a	n/a
49	IRF1	chr16:31104677-31104850	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
2	chr16:30996263..30999050-chr16:31104681..31107631,2	K562	blood:
3	chr16:31104440..31108567-chr16:31128079..31131886,5	MCF-7	breast:
4	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
5	chr16:31104411..31107220-chr16:31127738..31130777,6	K562	blood:
6	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
7	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
8	chr16:30995825..30999208-chr16:31104283..31108641,3	MCF-7	breast:
9	chr16:30959011..30961742-chr16:31104551..31107586,3	K562	blood:
10	chr16:30993478..30998928-chr16:31103966..31108613,11	MCF-7	breast:
11	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
12	chr16:30968024..30972662-chr16:31101043..31106214,4	MCF-7	breast:
13	chr16:30958416..30960902-chr16:31103309..31106232,3	MCF-7	breast:
14	chr16:31098290..31102055-chr16:31103024..31106957,5	MCF-7	breast:
15	chr16:31102640..31104934-chr16:31119820..31121678,2	K562	blood:
16	chr16:31103434..31106492-chr16:31118402..31121759,4	K562	blood:
17	chr16:31100062..31102619-chr16:31104236..31105774,2	K562	blood:
18	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:
19	chr16:31076020..31078080-chr16:31104345..31106297,2	MCF-7	breast:
20	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
21	chr16:31104528..31108651-chr16:31117626..31121071,4	MCF-7	breast:
22	chr16:31104484..31106009-chr16:31127592..31130114,2	MCF-7	breast:
23	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS53	TF binding region
ENSG00000262766	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000261487	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35319087	1.00[AMR][1000 genomes]
rs61733263	1.00[AMR][1000 genomes]
rs7198152	1.00[AMR][1000 genomes]
rs7499974	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31086600-31105200	Weak transcription	Right Atrium	heart
2	chr16:31090000-31105200	Weak transcription	Fetal Kidney	kidney
3	chr16:31093600-31104800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:31102800-31104800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:31102800-31104800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:31102800-31105400	Weak transcription	Aorta	Aorta
7	chr16:31103000-31104800	Weak transcription	Fetal Thymus	thymus
8	chr16:31103000-31105000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:31103000-31105200	Weak transcription	Fetal Lung	lung
10	chr16:31103000-31105400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:31103800-31104800	Enhancers	Esophagus	oesophagus
12	chr16:31103800-31104800	Enhancers	Pancreas	Pancrea
13	chr16:31103800-31105000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:31103800-31105400	Enhancers	Gastric	stomach
15	chr16:31104000-31105000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:31104000-31105000	Flanking Active TSS	Fetal Brain Female	brain
17	chr16:31104000-31105200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr16:31104000-31105200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr16:31104000-31105200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:31104000-31105200	Enhancers	Fetal Heart	heart
21	chr16:31104000-31105600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:31104200-31104800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr16:31104200-31104800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:31104200-31104800	Enhancers	Adipose Nuclei	Adipose
25	chr16:31104200-31104800	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:31104200-31104800	Active TSS	Rectal Smooth Muscle	rectum
27	chr16:31104200-31104800	Enhancers	Right Ventricle	heart
28	chr16:31104200-31105000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:31104200-31105000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:31104200-31105000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:31104200-31105000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr16:31104200-31105000	Flanking Active TSS	Osteobl	bone
33	chr16:31104200-31105200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:31104200-31105200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:31104200-31105200	Enhancers	Colon Smooth Muscle	Colon
36	chr16:31104200-31105200	Enhancers	Placenta	Placenta
37	chr16:31104200-31105200	Enhancers	Psoas Muscle	Psoas
38	chr16:31104200-31105400	Enhancers	Primary B cells from peripheral blood	blood
39	chr16:31104200-31105400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:31104200-31105400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:31104200-31105800	Flanking Active TSS	Dnd41	blood
42	chr16:31104200-31106400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:31104200-31106400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:31104400-31104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr16:31104400-31104800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:31104400-31104800	Active TSS	Brain Cingulate Gyrus	brain
47	chr16:31104400-31104800	Enhancers	Fetal Intestine Large	intestine
48	chr16:31104400-31104800	Weak transcription	Fetal Intestine Small	intestine
49	chr16:31104400-31104800	Enhancers	Left Ventricle	heart
50	chr16:31104400-31105000	Flanking Active TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links