Variant report

Variant	rs58115648
Chromosome Location	chr16:31013970-31013971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:31013581-31014146	MCF-7	breast:	n/a	n/a
2	MYC	chr16:31013683-31013999	MCF-7	breast:	n/a	n/a
3	FOXA1	chr16:31013686-31014014	T-47D	breast:	n/a	n/a
4	HA-E2F1	chr16:31013110-31014076	MCF-7	breast:	n/a	chr16:31013495-31013507
5	CTCF	chr16:31013840-31013990	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
2	chr16:31011772..31015018-chr16:31043547..31045573,3	MCF-7	breast:
3	chr16:31012265..31014466-chr16:31083623..31085542,3	MCF-7	breast:
4	chr16:31001398..31004336-chr16:31012819..31014564,2	MCF-7	breast:
5	chr16:31012830..31015179-chr16:31017421..31020382,2	MCF-7	breast:
6	chr16:31012351..31014401-chr16:31190659..31192180,2	MCF-7	breast:
7	chr16:31012820..31015317-chr16:31101271..31104026,2	MCF-7	breast:
8	chr16:30995981..30996850-chr16:31013280..31014028,2	MCF-7	breast:
9	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
10	chr16:31012635..31015487-chr16:31017692..31019843,2	K562	blood:
11	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:

No data

Variant related genes	Relation type
STX1B	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000103496	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59883711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015060	0.83[AMR][1000 genomes]
rs74015061	0.81[AFR][1000 genomes];1.00[AMR][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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009000-31020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:31009200-31020400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
4	chr16:31009400-31015000	Enhancers	Placenta	Placenta
5	chr16:31009400-31020600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:31009800-31014200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:31009800-31021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:31010200-31020800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:31010600-31017600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:31011000-31017000	Weak transcription	Fetal Brain Female	brain
11	chr16:31011200-31014000	Weak transcription	NH-A	brain
12	chr16:31011200-31016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:31011200-31018600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:31011200-31019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:31012600-31014800	Enhancers	Esophagus	oesophagus
16	chr16:31012600-31020400	Weak transcription	Brain Germinal Matrix	brain
17	chr16:31012800-31014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:31012800-31014200	Enhancers	HMEC	breast
19	chr16:31013000-31014000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:31013000-31014000	Enhancers	K562	blood
21	chr16:31013000-31014200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31013000-31014400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr16:31013000-31014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:31013000-31015400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr16:31013200-31014000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:31013200-31014000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:31013200-31014000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:31013200-31014000	Enhancers	Adipose Nuclei	Adipose
29	chr16:31013200-31014000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:31013200-31014000	Enhancers	Fetal Heart	heart
31	chr16:31013200-31014000	Enhancers	Left Ventricle	heart
32	chr16:31013200-31014000	Enhancers	Ovary	ovary
33	chr16:31013200-31015000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr16:31013200-31015000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr16:31013200-31018800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:31013400-31014000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:31013400-31014200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr16:31013400-31014400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr16:31013400-31014600	Enhancers	Fetal Muscle Leg	muscle
40	chr16:31013400-31014800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:31013600-31014000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:31013600-31014000	Active TSS	Brain Anterior Caudate	brain
43	chr16:31013600-31014200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr16:31013600-31014400	Enhancers	HSMMtube	muscle
45	chr16:31013600-31014600	Enhancers	Brain Cingulate Gyrus	brain
46	chr16:31013600-31014600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr16:31013800-31014000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:31013800-31014000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr16:31013800-31014200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:31013800-31014200	Enhancers	NHEK	skin

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