Variant report

Variant	rs116582254
Chromosome Location	chr16:81170482-81170483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr16:81170226-81170744	HepG2	liver:	n/a	chr16:81170408-81170423
2	FOXA1	chr16:81170265-81170745	HepG2	liver:	n/a	chr16:81170408-81170423
3	BHLHE40	chr16:81170170-81170518	HepG2	liver:	n/a	chr16:81170312-81170321
4	FOXA2	chr16:81170096-81170891	A549	lung:	n/a	n/a
5	FOXA1	chr16:81170253-81170811	HepG2	liver:	n/a	chr16:81170408-81170423
6	NR2F2	chr16:81170217-81171093	MCF-7	breast:	n/a	n/a
7	FOXA2	chr16:81170090-81170838	A549	lung:	n/a	n/a
8	SP1	chr16:81170216-81170642	A549	lung:	n/a	chr16:81170474-81170488
9	MAX	chr16:81170051-81171061	MCF-7	breast:	n/a	chr16:81170315-81170331
10	FOXA2	chr16:81170293-81170688	HepG2	liver:	n/a	n/a
11	TCF12	chr16:81170075-81170926	A549	lung:	n/a	n/a
12	SP1	chr16:81170144-81170618	A549	lung:	n/a	chr16:81170474-81170488
13	FOXA1	chr16:81170248-81170704	T-47D	breast:	n/a	chr16:81170408-81170423
14	FOXA1	chr16:81170203-81170770	HepG2	liver:	n/a	chr16:81170408-81170423
15	MAX	chr16:81170435-81171099	MCF-7	breast:	n/a	n/a
16	FOXA1	chr16:81170164-81170659	T-47D	breast:	n/a	chr16:81170408-81170423

No.	Distal block	Cell Line	Cell type
1	chr16:81170203..81172478-chr16:81173151..81175133,2	MCF-7	breast:
2	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
3	chr16:81110384..81110935-chr16:81169785..81170782,2	MCF-7	breast:
4	chr16:71843029..71844532-chr16:81169189..81171698,2	MCF-7	breast:

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000166473	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1056843	chr16:81154448-81172662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv907007	chr16:81157521-81181423	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv978328	chr16:81166830-81197232	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv960376	chr16:81170217-81214783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
4	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
5	chr16:81163800-81170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
7	chr16:81167200-81181000	Enhancers	Placenta	Placenta
8	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:81169600-81170600	Enhancers	Brain Cingulate Gyrus	brain
10	chr16:81169600-81171200	Enhancers	Fetal Brain Female	brain
11	chr16:81169600-81171600	Enhancers	Brain Germinal Matrix	brain
12	chr16:81169600-81171600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:81169600-81171800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr16:81169600-81171800	Enhancers	Fetal Brain Male	brain
15	chr16:81169600-81173400	Enhancers	Adipose Nuclei	Adipose
16	chr16:81169800-81170600	Enhancers	HepG2	liver
17	chr16:81169800-81170800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr16:81169800-81171000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:81169800-81171000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:81169800-81171200	Enhancers	Fetal Muscle Leg	muscle
21	chr16:81169800-81171200	Enhancers	Ovary	ovary
22	chr16:81169800-81171400	Enhancers	Fetal Lung	lung
23	chr16:81169800-81171400	Enhancers	A549	lung
24	chr16:81169800-81171600	Enhancers	Fetal Stomach	stomach
25	chr16:81170000-81170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:81170000-81171200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:81170000-81171600	Enhancers	Fetal Muscle Trunk	muscle
28	chr16:81170000-81173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
30	chr16:81170200-81170800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:81170200-81170800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:81170200-81170800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:81170200-81170800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr16:81170200-81170800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr16:81170200-81171000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr16:81170200-81171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:81170200-81171000	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr16:81170200-81171000	Enhancers	Colon Smooth Muscle	Colon
39	chr16:81170200-81171000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr16:81170200-81171200	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr16:81170200-81171200	Enhancers	HMEC	breast
42	chr16:81170200-81171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr16:81170400-81170600	Active TSS	NHDF-Ad	bronchial
44	chr16:81170400-81170600	Flanking Active TSS	Osteobl	bone
45	chr16:81170400-81170800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:81170400-81170800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:81170400-81170800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:81170400-81170800	Active TSS	NHLF	lung
49	chr16:81170400-81171000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:81170400-81171000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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