Variant report

Variant	rs3218744
Chromosome Location	chr16:46724931-46724932
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr16:46724569-46725030	HepG2	liver:	n/a	n/a
2	MXI1	chr16:46724754-46725101	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:46724802-46724977	HepG2	liver:	n/a	n/a
4	MXI1	chr16:46721916-46725345	IMR90	lung:	n/a	n/a
5	POLR2A	chr16:46724839-46724997	K562	blood:	n/a	n/a
6	ELF1	chr16:46724796-46725096	K562	blood:	n/a	n/a
7	USF1	chr16:46724774-46725083	HepG2	liver:	n/a	n/a
8	ELF1	chr16:46724732-46725116	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:46724723-46725100	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:46724771-46725060	HepG2	liver:	n/a	n/a
11	USF1	chr16:46724890-46725107	HepG2	liver:	n/a	n/a
12	USF1	chr16:46724864-46725117	K562	blood:	n/a	n/a
13	MAZ	chr16:46721784-46725197	IMR90	lung:	n/a	chr16:46723128-46723138 chr16:46723102-46723111 chr16:46722716-46722732
14	USF1	chr16:46724848-46725127	SK-N-SH_RA	brain:	n/a	n/a
15	FOXA2	chr16:46724696-46725024	HepG2	liver:	n/a	n/a
16	CEBPB	chr16:46724695-46725030	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:46722154-46724961	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr16:46722411-46725130	HepG2	liver:	n/a	n/a
19	TBP	chr16:46724721-46724958	HepG2	liver:	n/a	n/a
20	HEY1	chr16:46724575-46725173	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr16:46724802-46725053	K562	blood:	n/a	n/a
22	SIN3A	chr16:46724875-46724977	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr16:46724749-46725093	K562	blood:	n/a	n/a
24	POLR2A	chr16:46724905-46725063	MCF-7	breast:	n/a	n/a
25	MYC	chr16:46724913-46725023	MCF-7	breast:	n/a	n/a
26	NFIC	chr16:46724574-46725010	HepG2	liver:	n/a	n/a
27	RCOR1	chr16:46724907-46724964	HepG2	liver:	n/a	n/a
28	MXI1	chr16:46721259-46725435	SK-N-SH	brain:	n/a	n/a
29	FOXA1	chr16:46724714-46724989	T-47D	breast:	n/a	n/a
30	POLR2A	chr16:46722322-46725026	HepG2	liver:	n/a	n/a
31	MYC	chr16:46724916-46725008	HepG2	liver:	n/a	n/a
32	MYC	chr16:46724916-46724993	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr16:46724902-46725039	MCF-7	breast:	n/a	n/a
34	POLR2A	chr16:46724838-46725051	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr16:46724889-46725042	K562	blood:	n/a	n/a
36	USF1	chr16:46724864-46725122	SK-N-SH_RA	brain:	n/a	n/a
37	MAX	chr16:46724712-46725175	MCF-7	breast:	n/a	n/a
38	BHLHE40	chr16:46724868-46725048	K562	blood:	n/a	n/a
39	FOXA1	chr16:46724666-46725102	HepG2	liver:	n/a	n/a
40	ELF1	chr16:46724825-46725073	GM12878	blood:	n/a	n/a
41	BHLHE40	chr16:46724848-46725107	HepG2	liver:	n/a	n/a
42	FOXA1	chr16:46724601-46725057	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:46724924-46725007	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46723399..46726142-chr16:46727594..46729309,2	MCF-7	breast:
2	chr16:46721087..46725989-chr16:46862740..46865236,7	K562	blood:
3	chr16:46723658..46727681-chr16:46823795..46826359,3	K562	blood:
4	chr16:46721417..46725620-chr16:46861860..46865482,8	K562	blood:
5	chr16:46723042..46725138-chr16:46863743..46865908,3	MCF-7	breast:
6	chr16:46721630..46725552-chr16:46779076..46784170,6	K562	blood:

No data

Variant related genes	Relation type
VPS35	TF binding region
ORC6	TF binding region
ENSG00000140795	Chromatin interaction
ENSG00000155330	Chromatin interaction
ENSG00000260782	Chromatin interaction
ENSG00000091651	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11647138	1.00[CHB][hapmap]
rs1436436	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3218745	1.00[MEX][hapmap]
rs4519354	1.00[CHD][hapmap]
rs7197485	1.00[CHB][hapmap]
rs8049458	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
8	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv1799771	chr16:46705343-46731413	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv1059598	chr16:46721805-46762219	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv542913	chr16:46721805-46762219	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv1064272	chr16:46721805-46768134	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv542914	chr16:46721805-46768134	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
21	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46721000-46725000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:46721200-46725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:46721200-46725600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:46721400-46725800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:46721600-46725200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:46721800-46725000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:46721800-46725000	Active TSS	Colonic Mucosa	Colon
8	chr16:46721800-46725200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:46721800-46725200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:46721800-46725200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:46721800-46725200	Active TSS	GM12878-XiMat	blood
12	chr16:46721800-46725800	Active TSS	NHLF	lung
13	chr16:46722200-46725000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:46722200-46725200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:46723600-46725000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:46723600-46725000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:46723800-46725000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr16:46723800-46725200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:46723800-46726000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:46724000-46725000	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr16:46724000-46725200	Flanking Active TSS	Fetal Stomach	stomach
22	chr16:46724000-46725200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:46724000-46725400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr16:46724000-46725400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr16:46724000-46725800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:46724200-46725000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr16:46724200-46725000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr16:46724200-46725000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr16:46724200-46725000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr16:46724200-46725000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr16:46724200-46725000	Flanking Active TSS	Fetal Lung	lung
32	chr16:46724200-46725000	Flanking Active TSS	Fetal Thymus	thymus
33	chr16:46724200-46725000	Enhancers	Lung	lung
34	chr16:46724200-46725000	Enhancers	Pancreas	Pancrea
35	chr16:46724200-46725000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr16:46724200-46725000	Flanking Active TSS	Stomach Mucosa	stomach
37	chr16:46724200-46725000	Flanking Active TSS	Thymus	Thymus
38	chr16:46724200-46725000	Enhancers	Spleen	Spleen
39	chr16:46724200-46725200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:46724200-46725200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr16:46724200-46725400	Flanking Active TSS	NH-A	brain
42	chr16:46724200-46725800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:46724200-46725800	Flanking Active TSS	HUVEC	blood vessel
44	chr16:46724200-46726000	Flanking Active TSS	Osteobl	bone
45	chr16:46724200-46726200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr16:46724400-46725000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:46724400-46725000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr16:46724400-46725000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:46724400-46725000	Enhancers	Brain Substantia Nigra	brain
50	chr16:46724400-46725000	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links