Variant report

Variant	rs73407559
Chromosome Location	chr18:12653458-12653459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr18:12652756-12653720	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr18:12652706-12653772	SK-N-SH	brain:	n/a	n/a
3	RXRA	chr18:12652908-12653589	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr18:12652892-12653699	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr18:12652880-12653759	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr18:12652887-12653615	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr18:12652897-12653581	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr18:12653006-12653632	SK-N-SH	brain:	n/a	n/a
9	EP300	chr18:12652970-12653459	SK-N-SH_RA	brain:	n/a	n/a
10	PBX3	chr18:12652875-12653567	SK-N-SH	brain:	n/a	n/a
11	EP300	chr18:12652848-12653573	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr18:12652707-12653819	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
2	chr18:12643422..12646156-chr18:12653146..12655533,3	MCF-7	breast:
3	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
4	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215527	TF binding region
SPIRE1	TF binding region
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4313868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58991139	1.00[AMR][1000 genomes]
rs73403718	1.00[AMR][1000 genomes]
rs73403736	1.00[AMR][1000 genomes]
rs73403739	1.00[AMR][1000 genomes]
rs73403744	1.00[AMR][1000 genomes]
rs73405595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407561	1.00[AMR][1000 genomes]
rs73407562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407563	1.00[AFR][1000 genomes]

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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv576497	chr18:12650900-12658293	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv576498	chr18:12650900-12658436	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
2	chr18:12646000-12654000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:12646400-12656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:12646400-12656600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:12648000-12656800	Weak transcription	Left Ventricle	heart
9	chr18:12648400-12656600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:12648600-12655800	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:12648600-12656800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:12650000-12654400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:12651000-12653600	Enhancers	Brain Substantia Nigra	brain
14	chr18:12651000-12654000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:12651200-12653600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:12651200-12653600	Enhancers	Fetal Heart	heart
17	chr18:12651400-12653800	Enhancers	Brain Cingulate Gyrus	brain
18	chr18:12651600-12653600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12651600-12653600	Enhancers	HSMM	muscle
20	chr18:12651800-12653600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:12651800-12653600	Enhancers	Brain Germinal Matrix	brain
22	chr18:12651800-12653600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr18:12651800-12654000	Enhancers	Brain Hippocampus Middle	brain
24	chr18:12652000-12653600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr18:12652000-12653600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr18:12652200-12653600	Flanking Active TSS	Fetal Brain Female	brain
27	chr18:12652200-12653600	Enhancers	NH-A	brain
28	chr18:12652200-12655400	Enhancers	Fetal Brain Male	brain
29	chr18:12652400-12653600	Enhancers	Brain Angular Gyrus	brain
30	chr18:12652400-12654000	Enhancers	Adipose Nuclei	Adipose
31	chr18:12652400-12654000	Enhancers	HUVEC	blood vessel
32	chr18:12652600-12653600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:12652600-12654000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr18:12652600-12655400	Weak transcription	Fetal Kidney	kidney
35	chr18:12652800-12653600	Enhancers	Brain Anterior Caudate	brain
36	chr18:12652800-12653600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr18:12652800-12653800	Enhancers	Ovary	ovary
38	chr18:12652800-12653800	Enhancers	K562	blood
39	chr18:12652800-12654200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:12653000-12653600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:12653000-12653600	Enhancers	Liver	Liver
42	chr18:12653000-12653600	Enhancers	Colon Smooth Muscle	Colon
43	chr18:12653000-12653600	Enhancers	A549	lung
44	chr18:12653000-12653600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr18:12653000-12653800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:12653000-12653800	Enhancers	Dnd41	blood
47	chr18:12653000-12653800	Enhancers	HepG2	liver
48	chr18:12653000-12653800	Enhancers	NHLF	lung
49	chr18:12653000-12654000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:12653000-12655800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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